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 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 ATAD3B 83858 broad.mit.edu 37 1 1430883 1430883 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:1430883A>G uc001afv.2 + 16 1734 c.1633A>G c.(1633-1635)AAG>GAG p.K545E ATAD3B_uc001afx.2_Missense_Mutation_p.K499E|ATAD3B_uc001afy.2_Missense_Mutation_p.K98E NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN AAA-ATPase TOB3 545 ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ATATGCCTCCAAGGACGGGGT 0.642 NPHP4 261734 broad.mit.edu 37 1 5940242 5940242 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:5940242C>T uc001alq.1 - 19 2809 c.2543G>A c.(2542-2544)CGG>CAG p.R848Q NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 848 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) TGAGATGACCCGAGATCTGGA 0.522 TAS1R1 80835 broad.mit.edu 37 1 6637105 6637105 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:6637105G>A uc001ant.2 + 5 1569 c.1569G>A c.(1567-1569)GGG>GGA p.G523G TAS1R1_uc001anu.2_Silent_p.G269G|TAS1R1_uc001anv.2_Silent_p.G269G|TAS1R1_uc001anw.2_Intron|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 523 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TGCCCTGTGGGGCTGGGACCT 0.612 KLHL21 9903 broad.mit.edu 37 1 6659418 6659418 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:6659418G>A uc001aoa.2 - 2 1168 c.1116C>T c.(1114-1116)CGC>CGT p.R372R KLHL21_uc001anz.1_Silent_p.R372R|KLHL21_uc009vme.2_Silent_p.R5R NM_014851 NP_055666 Q9UJP4 KLH21_HUMAN kelch-like 21 372 Kelch 2. anaphase|cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule central_nervous_system(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) TGTGGTACTCGCGGGCCTTCA 0.647 MTHFR 4524 broad.mit.edu 37 1 11856376 11856376 + Missense_Mutation SNP C C T rs150847674 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:11856376C>T uc001atc.1 - 5 851 c.667G>A c.(667-669)GAT>AAT p.D223N MTHFR_uc001atb.1_Missense_Mutation_p.D246N NM_005957 NP_005948 P42898 MTHR_HUMAN 5,10-methylenetetrahydrofolate reductase 223 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) ATGATGAAATCGGCTCCCGCA 0.552 MFN2 9927 broad.mit.edu 37 1 12058853 12058853 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:12058853T>C uc001atn.3 + 7 1079 c.626T>C c.(625-627)CTG>CCG p.L209P MFN2_uc009vni.2_Missense_Mutation_p.L209P NM_014874 NP_055689 O95140 MFN2_HUMAN mitofusin 2 209 Cytoplasmic (Potential). blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) ACCACAGAGCTGGACAGCTGG 0.522 VPS13D 55187 broad.mit.edu 37 1 12371978 12371978 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:12371978G>A uc001atv.2 + 29 7072 c.6931G>A c.(6931-6933)GCC>ACC p.A2311T VPS13D_uc001atw.2_Missense_Mutation_p.A2311T|VPS13D_uc001atx.2_Missense_Mutation_p.A1499T|VPS13D_uc001aty.1_Missense_Mutation_p.A49T NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2311 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGGGTCCCTAGCCAGGTATGC 0.343 AADACL3 126767 broad.mit.edu 37 1 12785289 12785289 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:12785289C>T uc009vnn.1 + 4 612 c.379C>T c.(379-381)CCA>TCA p.P127S AADACL3_uc001aug.1_Missense_Mutation_p.P57S NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 isoform 1 127 hydrolase activity 0 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TGGAGTGGATCCAGCCCGGGT 0.557 PRAMEF10 343071 broad.mit.edu 37 1 12954532 12954532 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:12954532C>T uc001auo.2 - 3 824 c.751G>A c.(751-753)GTC>ATC p.V251I NM_001039361 NP_001034450 O60809 PRA10_HUMAN PRAME family member 10 251 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGCCACTGGACGCTCACGTAC 0.458 PRDM2 7799 broad.mit.edu 37 1 14107072 14107072 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:14107072G>A uc001avi.2 + 8 3638 c.2782G>A c.(2782-2784)GGT>AGT p.G928S PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.G928S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.G727S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 928 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TCCTGACCTCGGTCCGGGCTC 0.532 SLC25A34 284723 broad.mit.edu 37 1 16064618 16064618 + Missense_Mutation SNP C C T rs139368754 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:16064618C>T uc001axb.1 + 3 647 c.475C>T c.(475-477)CGG>TGG p.R159W SLC25A34_uc009vok.1_5'Flank NM_207348 NP_997231 Q6PIV7 S2534_HUMAN solute carrier family 25, member 34 159 Solcar 2. transport integral to membrane|mitochondrial inner membrane 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GACCATCTGGCGGCAGCAAGG 0.682 SPEN 23013 broad.mit.edu 37 1 16256110 16256110 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:16256110G>A uc001axk.1 + 11 3579 c.3375G>A c.(3373-3375)GAG>GAA p.E1125E SPEN_uc010obp.1_Silent_p.E1084E NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 1125 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AAGGACCAGAGAGAGAAGACG 0.398 ARHGEF10L 55160 broad.mit.edu 37 1 17983158 17983158 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:17983158G>A uc001ban.2 + 25 2974 c.2815G>A c.(2815-2817)GCT>ACT p.A939T ARHGEF10L_uc009vpe.1_Missense_Mutation_p.A900T|ARHGEF10L_uc001bao.2_Missense_Mutation_p.A900T|ARHGEF10L_uc001bap.2_Missense_Mutation_p.A895T|ARHGEF10L_uc001baq.2_Missense_Mutation_p.A700T|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.A712T|ARHGEF10L_uc001bar.2_Missense_Mutation_p.A642T|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 939 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CCACCTGCTCGCTGGCCTGCA 0.667 TAS1R2 80834 broad.mit.edu 37 1 19166209 19166209 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:19166209C>T uc001bba.1 - 6 2405 c.2404G>A c.(2404-2406)GCC>ACC p.A802T NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 802 Helical; Name=7; (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) AGGCTGATGGCCAGGAGGTTG 0.582 UBR4 23352 broad.mit.edu 37 1 19439226 19439226 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:19439226C>A uc001bbi.2 - 78 11597 c.11593G>T c.(11593-11595)GGC>TGC p.G3865C UBR4_uc001bbj.1_3'UTR NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3865 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GATGTGTGGCCACAGCCCAGG 0.592 TMCO4 255104 broad.mit.edu 37 1 20072102 20072102 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:20072102G>A uc001bcn.2 - 10 1042 c.800C>T c.(799-801)ACG>ATG p.T267M TMCO4_uc001bcm.2_Intron|TMCO4_uc001bco.1_Missense_Mutation_p.T267M|TMCO4_uc001bcp.1_Intron|TMCO4_uc009vpn.1_Missense_Mutation_p.T267M|TMCO4_uc001bcq.1_Missense_Mutation_p.T267M NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 267 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) AGGCAGAAACGTGAACTCTTC 0.572 HP1BP3 50809 broad.mit.edu 37 1 21091980 21091980 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:21091980C>A uc001bdw.1 - 8 920 c.780G>T c.(778-780)GAG>GAT p.E260D HP1BP3_uc001bdv.1_Missense_Mutation_p.E222D|HP1BP3_uc010odh.1_Missense_Mutation_p.E222D|HP1BP3_uc001bdy.1_Missense_Mutation_p.E260D|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.E259D|HP1BP3_uc010odf.1_Translation_Start_Site|HP1BP3_uc010odg.1_Missense_Mutation_p.E108D NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN HP1-BP74 260 H15 2. nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|skin(1) 2 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) GGAGGACATCCTCCAATTTTA 0.378 HSPG2 3339 broad.mit.edu 37 1 22150185 22150185 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:22150185G>A uc001bfj.2 - 96 12967 c.12927C>T c.(12925-12927)GTC>GTT p.V4309V LDLRAD2_uc001bfg.1_3'UTR|HSPG2_uc001bfi.2_Silent_p.V326V|HSPG2_uc009vqd.2_Silent_p.V4310V NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 4309 Laminin G-like 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCTCACCGTCGACTTGGATGG 0.647 HSPG2 3339 broad.mit.edu 37 1 22178102 22178102 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:22178102G>A uc001bfj.2 - 55 7135 c.7095C>T c.(7093-7095)CCC>CCT p.P2365P HSPG2_uc009vqd.2_Silent_p.P2366P NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2365 Ig-like C2-type 9. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGGACTGCCCGGGCACCACGC 0.657 EPHB2 2048 broad.mit.edu 37 1 23191603 23191603 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:23191603C>A uc009vqj.1 + 5 1346 c.1201C>A c.(1201-1203)CAC>AAC p.H401N EPHB2_uc001bge.2_Missense_Mutation_p.H401N|EPHB2_uc001bgf.2_Missense_Mutation_p.H401N|EPHB2_uc010odu.1_Missense_Mutation_p.H401N|hsa-mir-4253|MI0015860_5'Flank NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 401 Extracellular (Potential).|Fibronectin type-III 1. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCTGCTGGCCCACACCCAGTA 0.622 Hereditary_Prostate_Cancer IL22RA1 58985 broad.mit.edu 37 1 24447502 24447502 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:24447502G>A uc001biq.1 - 7 1557 c.1518C>T c.(1516-1518)GGC>GGT p.G506G IL22RA1_uc010oeg.1_Silent_p.G438G|IL22RA1_uc009vrb.1_Silent_p.G370G|IL22RA1_uc010oeh.1_3'UTR NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 precursor 506 Cytoplasmic (Potential). integral to membrane interferon receptor activity skin(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) ACATGGGGTGGCCCTCGATCT 0.602 STMN1 3925 broad.mit.edu 37 1 26230136 26230136 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:26230136C>T uc001bkz.2 - 3 546 c.182G>A c.(181-183)CGC>CAC p.R61H STMN1_uc010oev.1_Missense_Mutation_p.R61H|STMN1_uc001bla.2_Missense_Mutation_p.R61H|STMN1_uc001blb.2_Missense_Mutation_p.R61H|STMN1_uc001blc.2_Missense_Mutation_p.R61H NM_203401 NP_981946 P16949 STMN1_HUMAN stathmin 1 isoform a 61 Potential. cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus cytoplasm|microtubule signal transducer activity|tubulin binding 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649) GTTTACCTTGCGTCTTTCTTC 0.373 PAFAH2 5051 broad.mit.edu 37 1 26303254 26303254 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:26303254T>C uc001bld.3 - 8 857 c.677A>G c.(676-678)GAC>GGC p.D226G PAFAH2_uc001ble.3_Missense_Mutation_p.D226G NM_000437 NP_000428 Q99487 PAFA2_HUMAN platelet-activating factor acetylhydrolase 2 226 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding ovary(2) 2 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) ACGGCTCATGTCAATGTTGCC 0.483 GPATCH3 63906 broad.mit.edu 37 1 27224070 27224070 + Missense_Mutation SNP G G A rs144011521 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:27224070G>A uc001bne.2 - 2 627 c.598C>T c.(598-600)CGG>TGG p.R200W GPATCH3_uc009vsp.1_Missense_Mutation_p.R11W NM_022078 NP_071361 Q96I76 GPTC3_HUMAN G patch domain containing 3 200 intracellular nucleic acid binding 0 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) AAAAAGACCCGCAGGGGAGTC 0.622 PPP1R8 5511 broad.mit.edu 37 1 28176658 28176658 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:28176658C>T uc001bov.1 + 7 811 c.757C>T c.(757-759)CGC>TGC p.R253C PPP1R8_uc001bow.1_Missense_Mutation_p.R111C|PPP1R8_uc001box.1_Missense_Mutation_p.R29C|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA NM_014110 NP_054829 Q12972 PP1R8_HUMAN protein phosphatase 1 regulatory inhibitor 253 mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent cytoplasm|nuclear speck|spliceosomal complex DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding 0 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) AGGGAGCAGGCGCATGCAGAA 0.607 TSSK3 81629 broad.mit.edu 37 1 32829237 32829237 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:32829237C>T uc001bvf.2 + 2 628 c.187C>T c.(187-189)CGT>TGT p.R63C uc001bve.1_5'Flank NM_052841 NP_443073 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 63 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.R63G(1) stomach(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) CCAAATCGTCCGTACCCTGGA 0.557 PHC2 1912 broad.mit.edu 37 1 33836036 33836036 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:33836036G>A uc001bxg.1 - 4 616 c.562C>T c.(562-564)CTG>TTG p.L188L PHC2_uc001bxh.1_Silent_p.L188L|PHC2_uc009vuh.1_Silent_p.L188L|PHC2_uc001bxi.1_Silent_p.L188L NM_198040 NP_932157 Q8IXK0 PHC2_HUMAN polyhomeotic-like 2 isoform a 188 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TGTGCCCTCAGATACATCTGT 0.607 ZMYM6 9204 broad.mit.edu 37 1 35496158 35496158 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:35496158T>C uc001byh.2 - 2 311 c.83A>G c.(82-84)GAC>GGC p.D28G ZMYM6_uc001byf.1_Missense_Mutation_p.D28G|ZMYM6_uc010oht.1_Intron|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Missense_Mutation_p.D28G|ZMYM6_uc009vur.1_5'UTR|ZMYM6_uc001byj.2_Missense_Mutation_p.D28G|ZMYM6_uc001byi.2_Missense_Mutation_p.D28G|ZMYM6_uc001byk.2_Missense_Mutation_p.D28G NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 28 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) TTGAGCATTGTCTGGTTCTTC 0.343 MAP7D1 55700 broad.mit.edu 37 1 36638990 36638990 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:36638990G>A uc001bzz.2 + 5 866 c.650G>A c.(649-651)CGG>CAG p.R217Q MAP7D1_uc001caa.2_Missense_Mutation_p.R217Q|MAP7D1_uc001cab.2_Missense_Mutation_p.R217Q|MAP7D1_uc001cac.2_5'UTR NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 217 Potential. cytoplasm|spindle ovary(3)|breast(2) 5 Myeloproliferative disorder(586;0.0393) GCCATCCAACGGTCAGTGAAG 0.577 MACF1 23499 broad.mit.edu 37 1 39747967 39747967 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:39747967T>C uc010ois.1 + 8 836 c.631T>C c.(631-633)TAC>CAC p.Y211H MACF1_uc001cda.1_Missense_Mutation_p.Y119H|MACF1_uc010oit.1_Missense_Mutation_p.Y174H NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 211 Actin-binding.|CH 2. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GACAGCTGGTTACACAGGAAT 0.463 ZNF691 51058 broad.mit.edu 37 1 43317311 43317311 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:43317311G>A uc001cih.2 + 2 814 c.763G>A c.(763-765)GAG>AAG p.E255K ZNF691_uc001cig.2_Missense_Mutation_p.E228K|ZNF691_uc009vwm.2_Missense_Mutation_p.E248K NM_015911 NP_056995 Q5VV52 ZN691_HUMAN zinc finger protein 691 259 C2H2-type 6. nucleus DNA binding|zinc ion binding ovary(2) 2 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGAGTGCACTGAGTGTGGGCG 0.567 DPH2 1802 broad.mit.edu 37 1 44435850 44435850 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:44435850G>T uc001ckz.2 + 1 198 c.3G>T c.(1-3)ATG>ATT p.M1I DPH2_uc001cla.2_Missense_Mutation_p.M1I|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_5'UTR NM_001384 NP_001375 Q9BQC3 DPH2_HUMAN diphthamide biosynthesis protein 2 isoform a 1 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) TGTGCCTCATGGAGTCGATGT 0.647 PLK3 1263 broad.mit.edu 37 1 45267574 45267574 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:45267574C>T uc001cmn.2 + 5 723 c.623C>T c.(622-624)GCC>GTC p.A208V PLK3_uc001cmo.2_RNA NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 208 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) GGGCTGGCAGCCCGGTTGGAG 0.468 HECTD3 79654 broad.mit.edu 37 1 45474833 45474833 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:45474833C>T uc009vxk.2 - 7 1153 c.1055G>A c.(1054-1056)CGC>CAC p.R352H HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Missense_Mutation_p.R68H|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank NM_024602 NP_078878 Q5T447 HECD3_HUMAN HECT domain containing 3 352 DOC. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity 0 Acute lymphoblastic leukemia(166;0.155) CTCCACGATGCGGATCTCGAT 0.562 ZCCHC11 23318 broad.mit.edu 37 1 52891135 52891135 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:52891135C>T uc001ctx.2 - 29 4987 c.4753G>A c.(4753-4755)GCA>ACA p.A1585T ZCCHC11_uc001cty.2_Missense_Mutation_p.A1586T|ZCCHC11_uc001ctz.2_Missense_Mutation_p.A1581T NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 1585 Pro-rich. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 GGACGCGGTGCATGTTCCCAA 0.468 C1orf177 163747 broad.mit.edu 37 1 55282678 55282678 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:55282678G>A uc001cyb.3 + 9 1121 c.1067G>A c.(1066-1068)GGC>GAC p.G356D C1orf177_uc001cya.3_Missense_Mutation_p.G356D NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 356 0 GTAGGTGTGGGCCGCTACCTC 0.577 C8A 731 broad.mit.edu 37 1 57340695 57340695 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:57340695C>T uc001cyo.2 + 3 377 c.245C>T c.(244-246)GCC>GTC p.A82V NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 82 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 TGGGATCAAGCCAGCTGCTCC 0.483 CYP2J2 1573 broad.mit.edu 37 1 60381679 60381679 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:60381679T>C uc001czq.2 - 2 309 c.304A>G c.(304-306)ATC>GTC p.I102V NM_000775 NP_000766 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, 102 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity ovary(1) 1 all_cancers(7;0.000396) TCCATGTGGATAAGGGCTTCT 0.423 DNAJC6 9829 broad.mit.edu 37 1 65874367 65874367 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:65874367T>C uc001dcd.1 + 17 2528 c.2364T>C c.(2362-2364)GGT>GGC p.G788G DNAJC6_uc010opc.1_Silent_p.G775G|DNAJC6_uc001dce.1_Silent_p.G845G NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 788 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 TACTCTCTGGTCAAGGTTTCA 0.373 LRRC7 57554 broad.mit.edu 37 1 70504797 70504797 + Missense_Mutation SNP T T C rs139023629 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:70504797T>C uc001dep.2 + 19 3206 c.3176T>C c.(3175-3177)GTG>GCG p.V1059A LRRC7_uc009wbg.2_Missense_Mutation_p.V343A|LRRC7_uc001deq.2_Missense_Mutation_p.V300A NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1059 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CCCGAGTACGTGCAACAGGCC 0.448 C1orf173 127254 broad.mit.edu 37 1 75097397 75097397 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:75097397C>T uc001dgg.2 - 7 1038 c.819G>A c.(817-819)AAG>AAA p.K273K C1orf173_uc001dgi.3_Silent_p.K67K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 273 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCATAATCACCTTTGTCAAAA 0.338 DNAJB4 11080 broad.mit.edu 37 1 78478866 78478866 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:78478866C>T uc001dij.2 + 2 502 c.343C>T c.(343-345)CGA>TGA p.R115* DNAJB4_uc010orn.1_Translation_Start_Site NM_007034 NP_008965 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 115 protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding 0 CTTTGGAAGACGAATGGGTGG 0.438 ABCA4 24 broad.mit.edu 37 1 94578618 94578618 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:94578618C>T uc001dqh.2 - 2 175 c.71G>A c.(70-72)CGC>CAC p.R24H ABCA4_uc010otn.1_Missense_Mutation_p.R24H NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 24 Helical; (Potential). R -> H (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CACCACAAAGCGAATCTGGAA 0.428 LPPR4 9890 broad.mit.edu 37 1 99771300 99771300 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:99771300C>T uc001dse.2 + 7 1132 c.1026C>T c.(1024-1026)GAC>GAT p.D342D LPPR4_uc010oue.1_Silent_p.D284D NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 342 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) AGCACAGAGACGCCCTCAGGT 0.453 WDR47 22911 broad.mit.edu 37 1 109538449 109538449 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:109538449T>C uc001dwj.2 - 8 1820 c.1444A>G c.(1444-1446)AAG>GAG p.K482E WDR47_uc001dwl.2_Missense_Mutation_p.K490E|WDR47_uc001dwi.2_Missense_Mutation_p.K483E|WDR47_uc001dwk.2_Missense_Mutation_p.K454E|WDR47_uc010ovf.1_Missense_Mutation_p.K409E NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 482 ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) TCACCAAGCTTTTGAATGGAC 0.313 KCNA3 3738 broad.mit.edu 37 1 111216731 111216731 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:111216731C>T uc001dzv.1 - 1 925 c.701G>A c.(700-702)CGG>CAG p.R234Q NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 234 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GGCGATGCCCCGGGCCGGCCC 0.682 C1orf88 128344 broad.mit.edu 37 1 111891167 111891167 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:111891167G>T uc001eaw.2 + 4 368 c.288G>T c.(286-288)CAG>CAT p.Q96H C1orf88_uc001eax.2_Missense_Mutation_p.Q63H|C1orf88_uc009wge.1_Intron|C1orf88_uc001eay.2_Missense_Mutation_p.Q9H NM_181643 NP_857594 Q8TCI5 CA088_HUMAN hypothetical protein LOC128344 96 ovary(1)|skin(1) 2 all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135) GCAGGTACCAGAAAGTAAGTC 0.378 DENND2C 163259 broad.mit.edu 37 1 115079372 115079372 + RNA SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:115079372G>T uc001eez.2 - 29 c.4271C>A NM_198459 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTCCATGAAGTTAGGGAGGC 0.498 IGSF3 3321 broad.mit.edu 37 1 117127667 117127667 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:117127667G>A uc001egr.1 - 9 3153 c.2448C>T c.(2446-2448)CGC>CGT p.R816R IGSF3_uc001egq.1_Silent_p.R836R|IGSF3_uc001egs.1_Silent_p.R489R NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 816 Ig-like C2-type 7.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) TGAGCCTCAGGCGGCTGTCTG 0.567 PDE4DIP 9659 broad.mit.edu 37 1 145015901 145015901 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:145015901G>A uc001elx.3 - 3 522 c.187C>T c.(187-189)CCC>TCC p.P63S NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Missense_Mutation_p.P63S|PDE4DIP_uc001elo.2_Missense_Mutation_p.P134S|PDE4DIP_uc001emh.2_Missense_Mutation_p.P134S|uc001emj.2_Intron NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform Error:Variant_position_missing_in_Q5VU43_after_alignment cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ACCTGAGGGGGTTTCTCAAAT 0.458 T PDGFRB MPD C1orf56 54964 broad.mit.edu 37 1 151020433 151020433 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:151020433G>A uc001ewn.2 + 1 175 c.110G>A c.(109-111)AGT>AAT p.S37N NM_017860 NP_060330 Q9BUN1 CA056_HUMAN hypothetical protein LOC54964 precursor 37 extracellular region 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CAGCGGGTCAGTTTACGCTTT 0.667 C1orf56 54964 broad.mit.edu 37 1 151021230 151021230 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:151021230G>A uc001ewn.2 + 1 972 c.907G>A c.(907-909)GCC>ACC p.A303T NM_017860 NP_060330 Q9BUN1 CA056_HUMAN hypothetical protein LOC54964 precursor 303 extracellular region 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCTGCCACCCGCCAGCCCCTG 0.577 OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TCHH 7062 broad.mit.edu 37 1 152081442 152081442 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:152081442G>A uc001ezp.2 - 2 4251 c.4251C>T c.(4249-4251)CGC>CGT p.R1417R TCHH_uc009wne.1_Silent_p.R1417R NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1417 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTCCTCCTCGCGGAATTTTC 0.587 HRNR 388697 broad.mit.edu 37 1 152188317 152188317 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:152188317A>C uc001ezt.1 - 3 5864 c.5788T>G c.(5788-5790)TCC>GCC p.S1930A NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1930 21. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTGACGGGAGCCAGACCCA 0.577 FLG 2312 broad.mit.edu 37 1 152282336 152282336 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:152282336T>C uc001ezu.1 - 3 5062 c.5026A>G c.(5026-5028)AGT>GGT p.S1676G NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1676 Ser-rich.|Filaggrin 10. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCCTGGACTTGACCTTGCC 0.562 Ichthyosis FLG2 388698 broad.mit.edu 37 1 152326950 152326950 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:152326950T>C uc001ezw.3 - 3 3385 c.3312A>G c.(3310-3312)CAA>CAG p.Q1104Q uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1104 Ser-rich.|Filaggrin 4. 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) CTGGCCTGTGTTGTCCAAATC 0.507 NPR1 4881 broad.mit.edu 37 1 153660672 153660672 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:153660672C>T uc001fcs.3 + 15 2813 c.2392C>T c.(2392-2394)CGC>TGC p.R798C NPR1_uc010pdz.1_Missense_Mutation_p.R544C|NPR1_uc010pea.1_Missense_Mutation_p.R276C NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 798 Cytoplasmic (Potential).|Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CCAGCAGATCCGCCTGACGTT 0.607 KIAA0907 22889 broad.mit.edu 37 1 155896918 155896918 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:155896918C>T uc001fmi.1 - 5 518 c.494G>A c.(493-495)GGC>GAC p.G165D KIAA0907_uc001fmj.1_Missense_Mutation_p.G165D|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.G165D|KIAA0907_uc001fmm.2_Missense_Mutation_p.G165D|SCARNA4_uc001fmn.1_5'Flank|KIAA0907_uc001fmo.2_Missense_Mutation_p.G165D NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 165 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) CCGTGTCTGGCCCTGAACATG 0.413 RXFP4 339403 broad.mit.edu 37 1 155911718 155911718 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:155911718G>A uc010pgs.1 + 1 239 c.218G>A c.(217-219)GGC>GAC p.G73D NM_181885 NP_871001 Q8TDU9 RL3R2_HUMAN relaxin 3 receptor 2 73 Cytoplasmic (Potential). integral to membrane|plasma membrane angiotensin type II receptor activity 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) AGAGCCCCTGGCCCACCTTCA 0.612 SEMA4A 64218 broad.mit.edu 37 1 156146693 156146693 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:156146693A>G uc001fnl.2 + 15 2295 c.2191A>G c.(2191-2193)AGC>GGC p.S731G SEMA4A_uc009wrq.2_Missense_Mutation_p.S731G|SEMA4A_uc001fnm.2_Missense_Mutation_p.S731G|SEMA4A_uc001fnn.2_Missense_Mutation_p.S599G|SEMA4A_uc001fno.2_Missense_Mutation_p.S731G NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 731 Cytoplasmic (Potential). axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) GGCCCCGTTAAGCAGAGAGCA 0.597 CCT3 7203 broad.mit.edu 37 1 156288680 156288680 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:156288680T>C uc001fol.1 - 8 958 c.738A>G c.(736-738)GAA>GAG p.E246E CCT3_uc001fom.1_Silent_p.E245E|CCT3_uc001fon.1_Silent_p.E208E|CCT3_uc010phj.1_Silent_p.E200E|CCT3_uc010phk.1_Silent_p.E200E|CCT3_uc010phl.1_Silent_p.E200E NM_005998 NP_005989 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 isoform a 246 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CTTTCTTGTATTCCAGAGAAG 0.433 FCRL1 115350 broad.mit.edu 37 1 157772362 157772362 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:157772362T>C uc001frg.2 - 4 525 c.412A>G c.(412-414)ATG>GTG p.M138V FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.M138V|FCRL1_uc001fri.2_Missense_Mutation_p.M138V|FCRL1_uc001frj.2_Intron NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 138 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCTGTGCCCATAGCAACTGAG 0.547 KIRREL 55243 broad.mit.edu 37 1 158061167 158061167 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:158061167A>C uc001frn.3 + 11 1696 c.1292A>C c.(1291-1293)AAC>ACC p.N431T KIRREL_uc010pib.1_Missense_Mutation_p.N331T|KIRREL_uc009wsq.2_Missense_Mutation_p.N267T|KIRREL_uc001fro.3_Missense_Mutation_p.N245T NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 431 Ig-like C2-type 5.|Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) TGGAAGGAGAACTTCTTGGAG 0.592 CD1B 910 broad.mit.edu 37 1 158300854 158300854 + Splice_Site SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:158300854T>C uc001frx.2 - 2 170 c.62_splice c.e2-1 p.A21_splice CD1B_uc001frw.2_Splice_Site|CD1B_uc010pic.1_Intron NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) CCTGGAAGGCTGTGAAGAGTG 0.448 OR10K1 391109 broad.mit.edu 37 1 158435578 158435578 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:158435578T>G uc010pij.1 + 1 227 c.227T>G c.(226-228)GTC>GGC p.V76G NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 76 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TATACCTTTGTCATTGTACCC 0.468 OR10Z1 128368 broad.mit.edu 37 1 158576839 158576839 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:158576839T>A uc010pio.1 + 1 611 c.611T>A c.(610-612)CTT>CAT p.L204H NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) ATCCTCAGTCTTTTGGTCCTC 0.522 SPTA1 6708 broad.mit.edu 37 1 158626424 158626424 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:158626424G>A uc001fst.1 - 20 3027 c.2828C>T c.(2827-2829)GCC>GTC p.A943V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 943 Spectrin 10. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TAATAGAAAGGCCTCATGCTT 0.383 ARHGAP30 257106 broad.mit.edu 37 1 161026197 161026197 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:161026197C>T uc001fxl.2 - 3 672 c.326G>A c.(325-327)CGG>CAG p.R109Q ARHGAP30_uc001fxk.2_Missense_Mutation_p.R109Q|ARHGAP30_uc001fxm.2_Intron|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 109 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GTCATAGAGCCGGTAAGTGAG 0.557 PVRL4 81607 broad.mit.edu 37 1 161044096 161044096 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:161044096G>A uc001fxo.2 - 6 1367 c.1068C>T c.(1066-1068)ATC>ATT p.I356I PVRL4_uc010pjy.1_Silent_p.I35I|PVRL4_uc010pjz.1_Silent_p.I90I NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 356 Helical; (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) AGAGTGCGGCGATCACACCCA 0.597 PVRL4 81607 broad.mit.edu 37 1 161049588 161049588 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:161049588C>A uc001fxo.2 - 2 530 c.231G>T c.(229-231)CAG>CAT p.Q77H NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 77 Ig-like V-type 1.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GCGCTAGTTCCTGGGCGCCTT 0.682 USP21 27005 broad.mit.edu 37 1 161130992 161130992 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:161130992G>A uc010pke.1 + 3 939 c.562G>A c.(562-564)GCC>ACC p.A188T USP21_uc010pkc.1_Missense_Mutation_p.A188T|USP21_uc010pkd.1_Missense_Mutation_p.A188T|USP21_uc010pkf.1_Missense_Mutation_p.A188T NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 188 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CATGATATCCGCCCGGTCCTC 0.577 B4GALT3 8703 broad.mit.edu 37 1 161141819 161141819 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:161141819T>C uc001fyq.1 - 8 1231 c.969A>G c.(967-969)ACA>ACG p.T323T PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Silent_p.T103T|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Silent_p.T323T|B4GALT3_uc001fys.1_Silent_p.T323T NM_003779 NP_003770 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 323 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity 0 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) GCAACTGGTATGTCAGTGAGT 0.547 RGS4 5999 broad.mit.edu 37 1 163043361 163043361 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:163043361C>A uc009wuy.2 + 4 838 c.327C>A c.(325-327)CCC>CCA p.P109P RGS4_uc001gcl.3_Silent_p.P206P|RGS4_uc009wuz.2_Intron|RGS4_uc009wva.2_Silent_p.P91P NM_005613 NP_005604 P49798 RGS4_HUMAN regulator of G-protein signaling 4 isoform 2 109 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(2)|central_nervous_system(1) 3 AACTAAGTCCCAAGGCCAAAA 0.299 POGK 57645 broad.mit.edu 37 1 166818499 166818499 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:166818499A>G uc001gdt.1 + 5 803 c.683A>G c.(682-684)GAA>GGA p.E228G POGK_uc010ple.1_Missense_Mutation_p.E143G|POGK_uc010plf.1_Missense_Mutation_p.E110G NM_017542 NP_060012 Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 228 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding ovary(1) 1 GGAGTATTGGAAAAAAACGTT 0.552 F5 2153 broad.mit.edu 37 1 169500040 169500040 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:169500040T>C uc001ggg.1 - 15 5337 c.5192A>G c.(5191-5193)TAC>TGC p.Y1731C NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1731 F5/8 type A 3.|Plastocyanin-like 5. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CACAGCTGAGTAGTAGGCCCA 0.483 SELL 6402 broad.mit.edu 37 1 169676575 169676575 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:169676575C>T uc001ggk.2 - 4 686 c.488G>A c.(487-489)TGG>TAG p.W163* C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Nonsense_Mutation_p.W116*|SELL_uc001ggl.1_Nonsense_Mutation_p.W176* NM_000655 NP_000646 P14151 LYAM1_HUMAN selectin L precursor 163 EGF-like.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding 0 all_hematologic(923;0.208) ACTGCATGACCAGGGCTGGCA 0.388 SLC9A11 284525 broad.mit.edu 37 1 173506088 173506088 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:173506088G>A uc001giz.2 - 14 2071 c.1648C>T c.(1648-1650)CAA>TAA p.Q550* SLC9A11_uc009wwe.2_Nonsense_Mutation_p.Q108*|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 550 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TACTTTCCTTGGATGGAGTAA 0.318 TNR 7143 broad.mit.edu 37 1 175325484 175325484 + Missense_Mutation SNP C C G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:175325484C>G uc001gkp.1 - 14 3170 c.3089G>C c.(3088-3090)AGT>ACT p.S1030T TNR_uc009wwu.1_Missense_Mutation_p.S1030T NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1030 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GATGGTGCCACTGGTGAGAGG 0.498 ASTN1 460 broad.mit.edu 37 1 176998870 176998870 + Silent SNP G G A rs138051324 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:176998870G>A uc001glc.2 - 5 1232 c.1020C>T c.(1018-1020)TCC>TCT p.S340S ASTN1_uc001glb.1_Silent_p.S340S|ASTN1_uc001gld.1_Silent_p.S340S|ASTN1_uc009wwx.1_Silent_p.S340S|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 340 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TCAAGAAGGCGGAACCAGCTG 0.483 SEC16B 89866 broad.mit.edu 37 1 177937025 177937025 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:177937025C>T uc001gli.1 - 2 182 c.92G>A c.(91-93)GGA>GAA p.G31E SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Missense_Mutation_p.G31E|SEC16B_uc001gll.3_Missense_Mutation_p.G31E NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 31 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 CCGATGATGTCCATCTCTCCG 0.602 RASAL2 9462 broad.mit.edu 37 1 178389670 178389670 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:178389670G>T uc001glr.2 + 3 270 c.145G>T c.(145-147)GGC>TGC p.G49C RASAL2_uc009wxb.2_Missense_Mutation_p.G197C|RASAL2_uc001glq.2_Missense_Mutation_p.G197C NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 49 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 GCGCCTGAAAGGCTCCATCAA 0.478 NPL 80896 broad.mit.edu 37 1 182783988 182783988 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:182783988C>T uc009wyb.2 + 7 499 c.359C>T c.(358-360)ACC>ATC p.T120I NPL_uc010pnx.1_Missense_Mutation_p.T101I|NPL_uc010pny.1_RNA|NPL_uc001gpo.1_Missense_Mutation_p.T101I|NPL_uc009wyc.2_Missense_Mutation_p.T120I|NPL_uc001gpp.3_Missense_Mutation_p.T120I|NPL_uc001gpq.1_Missense_Mutation_p.T120I NM_030769 NP_110396 Q9BXD5 NPL_HUMAN N-acetylneuraminate pyruvate lyase 120 carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity ovary(1)|central_nervous_system(1)|skin(1) 3 AAGCCATGGACCAAAGGTAAG 0.423 LAMC2 3918 broad.mit.edu 37 1 183177156 183177156 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:183177156C>T uc001gqa.2 + 2 534 c.220C>T c.(220-222)CGG>TGG p.R74W LAMC2_uc001gpz.3_Missense_Mutation_p.R74W|LAMC2_uc010poa.1_5'UTR NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 74 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 TGGCTTTTACCGGCACAGAGA 0.507 TPR 7175 broad.mit.edu 37 1 186305776 186305776 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:186305776C>T uc001grv.2 - 33 4854 c.4557G>A c.(4555-4557)GTG>GTA p.V1519V NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1519 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ACTGAAGTTGCACAGTCTGTT 0.378 T NTRK1 papillary thyroid KCNT2 343450 broad.mit.edu 37 1 196395022 196395022 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:196395022G>A uc001gtd.1 - 11 1141 c.1081C>T c.(1081-1083)CAA>TAA p.Q361* KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.Q361*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.Q361*|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Nonsense_Mutation_p.Q361*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.Q336* NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 361 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 GCTGAACCTTGAAGGTAGATA 0.403 CFH 3075 broad.mit.edu 37 1 196716354 196716354 + Missense_Mutation SNP C C T rs145347741 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:196716354C>T uc001gtj.3 + 22 3847 c.3607C>T c.(3607-3609)CGG>TGG p.R1203W NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 1203 Sushi 20. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TGTGTGTAAACGGGGATATCG 0.383 CFHR4 10877 broad.mit.edu 37 1 196883716 196883716 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:196883716C>T uc001gto.2 + 4 600 c.531C>T c.(529-531)TAC>TAT p.Y177Y CFHR4_uc009wyy.2_Silent_p.Y423Y|CFHR4_uc001gtp.2_Silent_p.Y424Y NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 177 Sushi 3. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 ACGAATGCTACGATGGATATG 0.398 ZBTB41 360023 broad.mit.edu 37 1 197145714 197145714 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:197145714T>C uc001gtx.1 - 7 1928 c.1859A>G c.(1858-1860)AAG>AGG p.K620R ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 620 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TTTTTTGTGCTTTGTAAGGTG 0.294 DENND1B 163486 broad.mit.edu 37 1 197586803 197586803 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:197586803C>T uc001guf.3 - 11 1097 c.759G>A c.(757-759)CTG>CTA p.L253L DENND1B_uc010ppe.1_Silent_p.L233L|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Silent_p.L223L|DENND1B_uc001gug.3_Silent_p.L52L NM_144977 NP_659414 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 2 253 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 AGTAGTCCAGCAGGTGTGGAG 0.418 LHX9 56956 broad.mit.edu 37 1 197890758 197890758 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:197890758G>A uc001guk.1 + 3 1139 c.702G>A c.(700-702)GCG>GCA p.A234A LHX9_uc001gui.1_Silent_p.A225A|LHX9_uc001guj.1_Silent_p.A240A NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 234 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 AGAGCCCAGCGCTGGGAGTGG 0.652 NAV1 89796 broad.mit.edu 37 1 201687704 201687704 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:201687704C>T uc001gwu.2 + 3 1394 c.1047C>T c.(1045-1047)GGC>GGT p.G349G NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 349 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 ACATGCACGGCGAACGGGCCC 0.687 PIK3C2B 5287 broad.mit.edu 37 1 204408163 204408163 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:204408163C>T uc001haw.2 - 24 3895 c.3416G>A c.(3415-3417)CGT>CAT p.R1139H PIK3C2B_uc010pqv.1_Missense_Mutation_p.R1111H NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1139 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CTGGATCTTACGCAGGGTCTC 0.587 DYRK3 8444 broad.mit.edu 37 1 206821125 206821125 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:206821125T>C uc001hej.2 + 3 750 c.582T>C c.(580-582)GAT>GAC p.D194D DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Silent_p.D174D NM_003582 NP_003573 O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 194 erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|central_nervous_system(1) 3 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) ATGATGCAGATGGGGCCTATA 0.418 KCNH1 3756 broad.mit.edu 37 1 210856804 210856804 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:210856804C>T uc001hib.2 - 11 2959 c.2789G>A c.(2788-2790)AGG>AAG p.R930K KCNH1_uc001hic.2_Missense_Mutation_p.R903K NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 930 Cytoplasmic (Potential).|CAD (involved in subunit assembly) (By similarity). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CAGCTCGTGCCTCACCTCCAG 0.532 CNIH3 149111 broad.mit.edu 37 1 224804897 224804897 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:224804897G>A uc001hos.1 + 1 719 c.21G>A c.(19-21)GCG>GCA p.A7A NM_152495 NP_689708 Q8TBE1 CNIH3_HUMAN cornichon homolog 3 7 Cytoplasmic (Potential). intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane 0 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) CTTTCGCTGCGTTCTGCTACA 0.597 LBR 3930 broad.mit.edu 37 1 225591108 225591108 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:225591108T>C uc001hoy.2 - 14 1888 c.1745A>G c.(1744-1746)CAC>CGC p.H582R LBR_uc001hoz.2_Missense_Mutation_p.H582R NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 582 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) AGCTTCTCGGTGGACAAGCAA 0.388 ACBD3 64746 broad.mit.edu 37 1 226353563 226353563 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:226353563C>A uc001hpy.2 - 2 472 c.425G>T c.(424-426)AGG>ATG p.R142M NM_022735 NP_073572 Q9H3P7 GCP60_HUMAN acyl-Coenzyme A binding domain containing 3 142 ACB. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) CTGTTACCTCCTGTCATTCCC 0.398 TTC13 79573 broad.mit.edu 37 1 231060632 231060632 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:231060632A>G uc001huf.3 - 14 1707 c.1676T>C c.(1675-1677)TTG>TCG p.L559S TTC13_uc009xfi.2_Missense_Mutation_p.L506S|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.L506S|TTC13_uc009xfk.1_Missense_Mutation_p.L449S NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 559 binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CCACTGCATCAACCGTGTCTT 0.428 ERO1LB 56605 broad.mit.edu 37 1 236389790 236389790 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:236389790T>C uc001hxt.2 - 12 1087 c.831A>G c.(829-831)GGA>GGG p.G277G NM_019891 NP_063944 Q86YB8 ERO1B_HUMAN endoplasmic reticulum oxidoreductin 1-Lbeta 277 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TAATATTAGGTCCCCAACTGG 0.363 HEATR1 55127 broad.mit.edu 37 1 236760194 236760194 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:236760194A>G uc001hyd.1 - 6 811 c.686T>C c.(685-687)GTA>GCA p.V229A NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 229 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTCTGCAGCTACCAGCGCCGA 0.448 RYR2 6262 broad.mit.edu 37 1 237777405 237777405 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:237777405G>A uc001hyl.1 + 37 5097 c.4977G>A c.(4975-4977)CGG>CGA p.R1659R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1659 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACACTCTCCGGCTCTACTCAG 0.502 RGS7 6000 broad.mit.edu 37 1 240977013 240977013 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:240977013C>A uc001hyv.2 - 13 1191 c.861G>T c.(859-861)ACG>ACT p.T287T RGS7_uc010pyh.1_Silent_p.T261T|RGS7_uc010pyj.1_Silent_p.T203T|RGS7_uc001hyu.2_Silent_p.T287T|RGS7_uc009xgn.1_Silent_p.T234T|RGS7_uc001hyw.2_Silent_p.T287T|RGS7_uc001hyt.2_Silent_p.T119T NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 287 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) AATACTGTTCCGTGTAACTTA 0.433 OR11L1 391189 broad.mit.edu 37 1 248004443 248004443 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:248004443G>A uc001idn.1 - 1 756 c.756C>T c.(754-756)TAC>TAT p.Y252Y NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCATGGTCCCGTAGTAGAGAG 0.493 UPF2 26019 broad.mit.edu 37 10 12006024 12006024 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:12006024C>T uc001ila.2 - 10 2642 c.2168G>A c.(2167-2169)AGG>AAG p.R723K UPF2_uc001ilb.2_Missense_Mutation_p.R723K|UPF2_uc001ilc.2_Missense_Mutation_p.R723K|UPF2_uc009xiz.1_Missense_Mutation_p.R723K NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 723 MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) TACACTGGTCCTCAGGTGAGA 0.458 UPF2 26019 broad.mit.edu 37 10 12071324 12071324 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:12071324A>C uc001ila.2 - 2 1039 c.565T>G c.(565-567)TTG>GTG p.L189V UPF2_uc001ilb.2_Missense_Mutation_p.L189V|UPF2_uc001ilc.2_Missense_Mutation_p.L189V|UPF2_uc009xiz.1_Missense_Mutation_p.L189V NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 189 MIF4G 1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) TCATGGGACAAGGAGTCTCTC 0.383 CUBN 8029 broad.mit.edu 37 10 16942758 16942758 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:16942758A>G uc001ioo.2 - 53 8328 c.8276T>C c.(8275-8277)ATC>ACC p.I2759T CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.I115T NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2759 CUB 20. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTGTCCTATGATGGGTGATTC 0.463 SLC39A12 221074 broad.mit.edu 37 10 18276457 18276457 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:18276457G>A uc001ipo.2 + 7 1419 c.1146G>A c.(1144-1146)ATG>ATA p.M382I SLC39A12_uc001ipn.2_Missense_Mutation_p.M382I|SLC39A12_uc001ipp.2_Missense_Mutation_p.M382I|SLC39A12_uc010qck.1_Missense_Mutation_p.M248I NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 382 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TGGGCTCCATGCTGGGGACAG 0.557 YME1L1 10730 broad.mit.edu 37 10 27403477 27403477 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:27403477G>A uc001iti.2 - 19 2333 c.2151C>T c.(2149-2151)ATC>ATT p.I717I YME1L1_uc001itj.2_Silent_p.I660I|YME1L1_uc010qdl.1_Silent_p.I627I|YME1L1_uc009xkv.2_RNA NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 717 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 TTTCTTGTTCGATGGCAGATT 0.333 MPP7 143098 broad.mit.edu 37 10 28420597 28420597 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:28420597A>G uc001iua.1 - 8 743 c.339T>C c.(337-339)ACT>ACC p.T113T MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.T113T|MPP7_uc009xla.2_Silent_p.T113T|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 113 L27 2. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 TCTGAGCCACAGTATCATGTA 0.299 KIAA1462 57608 broad.mit.edu 37 10 30317027 30317027 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:30317027G>A uc001iux.2 - 2 2109 c.2050C>T c.(2050-2052)CAC>TAC p.H684Y KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.H546Y|KIAA1462_uc009xle.1_Missense_Mutation_p.H684Y NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 684 ovary(4) 4 CTGTACCGGTGCCCTGGCCAA 0.532 ZEB1 6935 broad.mit.edu 37 10 31791321 31791321 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:31791321A>G uc001ivs.3 + 4 428 c.365A>G c.(364-366)CAT>CGT p.H122R ZEB1_uc001ivr.3_5'UTR|ZEB1_uc010qee.1_5'UTR|ZEB1_uc010qef.1_5'UTR|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivt.3_5'UTR|ZEB1_uc001ivu.3_Missense_Mutation_p.H123R|ZEB1_uc001ivv.3_Missense_Mutation_p.H102R|ZEB1_uc010qeh.1_Missense_Mutation_p.H55R|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Missense_Mutation_p.H105R|ZEB1_uc009xlp.2_Missense_Mutation_p.H106R NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 122 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) GAGCAAAACCATGATCCTAAT 0.403 CCDC7 221016 broad.mit.edu 37 10 32740668 32740668 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:32740668C>A uc001iwj.2 + 2 668 c.98C>A c.(97-99)CCT>CAT p.P33H CCDC7_uc009xlu.1_RNA|CCDC7_uc001iwk.2_Missense_Mutation_p.P33H|CCDC7_uc009xlv.2_RNA|CCDC7_uc009xlw.1_RNA|CCDC7_uc009xlx.1_Missense_Mutation_p.P33H|CCDC7_uc009xly.1_RNA NM_145023 NP_659460 Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 33 0 Breast(68;0.000207)|Prostate(175;0.0107) CCATTATCACCTGAGCTAAAG 0.343 ITGB1 3688 broad.mit.edu 37 10 33209310 33209310 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:33209310G>T uc001iws.3 - 10 1268 c.1132C>A c.(1132-1134)CTT>ATT p.L378I ITGB1_uc001iwp.3_Missense_Mutation_p.L378I|ITGB1_uc001iwq.3_Missense_Mutation_p.L378I|ITGB1_uc001iwr.3_Missense_Mutation_p.L378I|ITGB1_uc001iwt.3_Missense_Mutation_p.L378I|ITGB1_uc001iwu.1_Missense_Mutation_p.L378I NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 378 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) TCTGAGGAAAGGGACTAAAAG 0.353 NRP1 8829 broad.mit.edu 37 10 33469287 33469287 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:33469287G>A uc001iwx.3 - 17 3012 c.2489C>T c.(2488-2490)ACG>ATG p.T830M NRP1_uc001iwv.3_Missense_Mutation_p.T813M|NRP1_uc009xlz.2_Missense_Mutation_p.T824M|NRP1_uc001iww.3_Missense_Mutation_p.T642M|NRP1_uc001iwy.3_Missense_Mutation_p.T823M NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 830 Extracellular (Potential). axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) GTATCCTGGCGTGCTCCCTAT 0.473 BMS1 9790 broad.mit.edu 37 10 43297650 43297650 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:43297650G>T uc001jaj.2 + 13 2671 c.2313G>T c.(2311-2313)AAG>AAT p.K771N NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 771 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 ATGCAGCCAAGGTCTTAGCAG 0.398 CSGALNACT2 55454 broad.mit.edu 37 10 43656003 43656003 + Nonsense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:43656003G>T uc001jan.2 + 4 1275 c.940G>T c.(940-942)GGA>TGA p.G314* CSGALNACT2_uc001jam.1_Nonsense_Mutation_p.G314* NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 314 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 TGGTAAAGAAGGACTGTCTAA 0.353 ALOX5 240 broad.mit.edu 37 10 45877991 45877991 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:45877991G>A uc001jce.2 + 2 310 c.211G>A c.(211-213)GAG>AAG p.E71K ALOX5_uc009xmt.2_Missense_Mutation_p.E71K|ALOX5_uc010qfg.1_Missense_Mutation_p.E71K NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 71 PLAT. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) GGTCAGAATCGAGAAGCGCAA 0.567 RBP3 5949 broad.mit.edu 37 10 48390672 48390672 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:48390672G>A uc001jez.2 - 1 320 c.206C>T c.(205-207)ACG>ATG p.T69M NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 69 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) ACTGGCCAGCGTCTGCGGGTC 0.607 FAM13C 220965 broad.mit.edu 37 10 61043190 61043190 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:61043190C>T uc001jkn.2 - 7 659 c.525G>A c.(523-525)GTG>GTA p.V175V FAM13C_uc001jko.2_Silent_p.V175V|FAM13C_uc010qid.1_Silent_p.V92V|FAM13C_uc010qie.1_Silent_p.V92V|FAM13C_uc010qif.1_Silent_p.V197V|FAM13C_uc001jkp.2_Silent_p.V92V NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 175 ovary(2) 2 TGACTCCATGCACCTGAGCAG 0.527 HNRNPH3 3189 broad.mit.edu 37 10 70097668 70097668 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:70097668A>C uc001jnw.3 + 3 395 c.166A>C c.(166-168)AGC>CGC p.S56R HNRNPH3_uc001jnx.3_Missense_Mutation_p.S56R|HNRNPH3_uc009xpu.2_5'UTR|HNRNPH3_uc010qiv.1_Intron|HNRNPH3_uc001jny.3_Missense_Mutation_p.S7R NM_012207 NP_036339 P31942 HNRH3_HUMAN heterogeneous nuclear ribonucleoprotein H3 56 RRM 1. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex nucleotide binding|protein binding|RNA binding ovary(2) 2 CCAGGGGAGAAGCACAGGGGA 0.488 C10orf27 219793 broad.mit.edu 37 10 72539499 72539499 + Splice_Site SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:72539499C>T uc001jrj.1 - 5 668 c.278_splice c.e5-1 p.D93_splice C10orf27_uc010qjm.1_Splice_Site_p.D93_splice|C10orf27_uc009xqh.1_Splice_Site|C10orf27_uc010qjn.1_Splice_Site_p.D93_splice|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Splice_Site_p.D82_splice|C10orf27_uc009xqj.1_Silent_p.Q87Q|C10orf27_uc010qjp.1_Splice_Site_p.D82_splice NM_152710 NP_689923 Q96M53 SPATL_HUMAN stromal protein associated with thymii and lymph cell differentiation|multicellular organismal development|spermatogenesis cytosol skin(1) 1 CCGGTGAGATCTGCAAAGGGT 0.577 SLC29A3 55315 broad.mit.edu 37 10 73121832 73121832 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:73121832C>T uc001jrr.3 + 6 952 c.895C>T c.(895-897)CGC>TGC p.R299C SLC29A3_uc001jrs.3_3'UTR|SLC29A3_uc010qjq.1_Missense_Mutation_p.R153C|SLC29A3_uc001jrt.3_Missense_Mutation_p.R93C|SLC29A3_uc001jru.3_Missense_Mutation_p.R111C NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN solute carrier family 29 (nucleoside 299 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity 0 ACCCCCTCTCCGCCCCATCCT 0.587 FUT11 170384 broad.mit.edu 37 10 75533570 75533570 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:75533570A>G uc001jva.2 + 2 1374 c.1331A>G c.(1330-1332)GAC>GGC p.D444G FUT11_uc001juy.1_3'UTR|FUT11_uc001juz.1_Missense_Mutation_p.D444G NM_173540 NP_775811 Q495W5 FUT11_HUMAN fucosyltransferase 11 (alpha (1,3) 444 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity 0 Prostate(51;0.0112) CCTGAGAATGACAGGTAAGAG 0.537 PPIF 10105 broad.mit.edu 37 10 81113488 81113488 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:81113488G>A uc001kai.2 + 6 599 c.514G>A c.(514-516)GGT>AGT p.G172S PPIF_uc001kaj.2_Silent_p.S146S NM_005729 NP_005720 P30405 PPIF_HUMAN peptidylprolyl isomerase F precursor 172 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity skin(1) 1 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) TGTTGTGTTCGGTCACGTCAA 0.512 PPIF 10105 broad.mit.edu 37 10 81113585 81113585 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:81113585G>A uc001kai.2 + 6 696 c.611G>A c.(610-612)GGC>GAC p.G204D PPIF_uc001kaj.2_3'UTR NM_005729 NP_005720 P30405 PPIF_HUMAN peptidylprolyl isomerase F precursor 204 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity skin(1) 1 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) ACAGACTGTGGCCAGTTGAGC 0.542 SFTPA2 729238 broad.mit.edu 37 10 81317088 81317088 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:81317088G>A uc001kal.3 - 6 721 c.624C>T c.(622-624)TAC>TAT p.Y208Y SFTPA2_uc001kan.3_Silent_p.Y208Y NM_006926 NP_008857 Q8IWL1 SFPA2_HUMAN RecName: Full=Pulmonary surfactant-associated protein A2; Short=SP-A2; Short=SP-A; Short=PSP-A; Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor; 208 C-type lectin. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) ACCAGTTGGTGTAGTTTACAG 0.547 Pulmonary_Fibrosis_Idiopathic KIF20B 9585 broad.mit.edu 37 10 91483733 91483733 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:91483733T>C uc001kgs.1 + 14 1807 c.1735T>C c.(1735-1737)TTA>CTA p.L579L KIF20B_uc001kgr.1_Silent_p.L579L|KIF20B_uc001kgt.1_5'UTR NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 579 Potential. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 ACTGTTGGACTTAATAGAAGA 0.254 EXOC6 54536 broad.mit.edu 37 10 94712135 94712135 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:94712135C>T uc001kig.2 + 15 1588 c.1522C>T c.(1522-1524)CGG>TGG p.R508W EXOC6_uc010qnr.1_Missense_Mutation_p.R524W|EXOC6_uc001kie.2_Missense_Mutation_p.R503W|EXOC6_uc009xub.2_Missense_Mutation_p.R507W|EXOC6_uc009xuc.2_Missense_Mutation_p.R405W|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.R82W NM_019053 NP_061926 Q8TAG9 EXOC6_HUMAN SEC15-like 1 isoform a 508 protein transport|vesicle docking involved in exocytosis exocyst skin(1) 1 Colorectal(252;0.123) GTCACTACACCGGAGGTGAGT 0.284 MYOF 26509 broad.mit.edu 37 10 95083098 95083098 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:95083098C>A uc001kin.2 - 47 5412 c.5289G>T c.(5287-5289)TGG>TGT p.W1763C MYOF_uc001kio.2_Missense_Mutation_p.W1750C|MYOF_uc009xue.2_Intron NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 1763 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 AAACATCCACCCACATCTGAA 0.433 ENTPD1 953 broad.mit.edu 37 10 97624518 97624518 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:97624518T>C uc001klh.3 + 9 1550 c.1226T>C c.(1225-1227)CTG>CCG p.L409P ENTPD1_uc001kli.3_Missense_Mutation_p.L416P|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.L421P|ENTPD1_uc010qok.1_Missense_Mutation_p.L301P|ENTPD1_uc010qol.1_Missense_Mutation_p.L301P|ENTPD1_uc010qom.1_Missense_Mutation_p.L368P|ENTPD1_uc010qon.1_Missense_Mutation_p.L271P|ENTPD1_uc009xva.2_Missense_Mutation_p.L271P|ENTPD1_uc009xuz.2_RNA NM_001776 NP_001767 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 409 Extracellular (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) GAGAAGTACCTGAGTGAATAC 0.453 RRP12 23223 broad.mit.edu 37 10 99139083 99139083 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:99139083A>C uc001knf.2 - 15 1904 c.1765T>G c.(1765-1767)TTC>GTC p.F589V RRP12_uc009xvm.2_Missense_Mutation_p.F307V|RRP12_uc010qou.1_Missense_Mutation_p.F528V|RRP12_uc009xvn.2_Missense_Mutation_p.F489V NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 589 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) AGGGGCAAGAAGTAGGTGGTG 0.537 AVPI1 60370 broad.mit.edu 37 10 99439420 99439420 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:99439420C>T uc001koh.1 - 2 354 c.243G>A c.(241-243)AGG>AGA p.R81R AVPI1_uc001koi.2_Silent_p.R81R NM_021732 NP_068378 Q5T686 AVPI1_HUMAN vasopressin-induced protein, 32kDa 81 R -> K (in Ref. 3; BAD96819). cell cycle breast(1) 1 Colorectal(252;0.162) Epithelial(162;8.37e-11)|all cancers(201;7.94e-09) GGGGTTTCTGCCTTGGGGGCC 0.577 LOXL4 84171 broad.mit.edu 37 10 100017916 100017916 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:100017916C>T uc001kpa.1 - 7 1078 c.927G>A c.(925-927)CCG>CCA p.P309P NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 precursor 309 extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity ovary(3)|breast(1)|skin(1) 5 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) GGCGCACCCTCGGCTCCTGCT 0.687 PYROXD2 84795 broad.mit.edu 37 10 100147059 100147059 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:100147059C>T uc001kpc.2 - 14 1539 c.1453G>A c.(1453-1455)GAT>AAT p.D485N PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA NM_032709 NP_116098 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase 485 oxidoreductase activity central_nervous_system(1) 1 TCGATGCAATCAAACACTGGG 0.408 MGEA5 10724 broad.mit.edu 37 10 103558747 103558747 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:103558747G>A uc001ktv.2 - 9 2104 c.1661C>T c.(1660-1662)ACC>ATC p.T554I MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.T501I|MGEA5_uc009xws.2_Missense_Mutation_p.T501I|MGEA5_uc001ktw.2_Missense_Mutation_p.T554I|MGEA5_uc009xwt.2_Missense_Mutation_p.T317I NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 554 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) ATCCTCCAGGGTCACTGGTTC 0.468 NOLC1 9221 broad.mit.edu 37 10 103921390 103921390 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:103921390A>G uc001kuo.2 + 11 2054 c.1819A>G c.(1819-1821)ACC>GCC p.T607A NOLC1_uc001kup.2_Missense_Mutation_p.T617A|NOLC1_uc001kuq.2_Missense_Mutation_p.T608A|NOLC1_uc009xxb.1_Missense_Mutation_p.T326A|NOLC1_uc001kur.2_Missense_Mutation_p.T326A NM_004741 NP_004732 Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 607 Nuclear localization signal (Potential). mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) AAAGCTTCAGACCCCTAACAC 0.428 GBF1 8729 broad.mit.edu 37 10 104120057 104120057 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:104120057C>T uc001kux.1 + 12 1534 c.1294C>T c.(1294-1296)CAT>TAT p.H432Y GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.H432Y|GBF1_uc001kuz.1_Missense_Mutation_p.H433Y NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 432 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CATGGGACTGCATTTGCTGAC 0.547 NFKB2 4791 broad.mit.edu 37 10 104156720 104156720 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:104156720A>G uc001kvb.2 + 6 568 c.303A>G c.(301-303)CCA>CCG p.P101P NFKB2_uc001kva.2_Silent_p.P101P|NFKB2_uc010qqk.1_Silent_p.P101P|NFKB2_uc001kvd.2_Silent_p.P101P|NFKB2_uc009xxc.2_Silent_p.P101P NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene 101 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(3) 3 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) ACAGTGACCCACCTCGTGCTC 0.602 T IGH@ B-NHL TMEM180 79847 broad.mit.edu 37 10 104230500 104230500 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:104230500G>A uc001kvt.2 + 5 549 c.330G>A c.(328-330)GCG>GCA p.A110A TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Silent_p.A110A NM_024789 NP_079065 Q14CX5 TM180_HUMAN transmembrane protein 180 110 Helical; (Potential). integral to membrane ovary(1) 1 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CGCTGCTGGCGCTGTCGTTCC 0.682 OBFC1 79991 broad.mit.edu 37 10 105659861 105659861 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:105659861C>T uc001kxl.2 - 4 491 c.416G>A c.(415-417)CGC>CAC p.R139H OBFC1_uc001kxm.2_Missense_Mutation_p.R139H|OBFC1_uc001kxn.2_RNA NM_024928 NP_079204 Q9H668 STN1_HUMAN oligonucleotide/oligosaccharide-binding fold 139 OB. positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding ovary(1) 1 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) TCTGTATGTGCGGATACTGCC 0.453 ZDHHC6 64429 broad.mit.edu 37 10 114194118 114194118 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:114194118C>A uc001kzv.2 - 7 1264 c.840G>T c.(838-840)GGG>GGT p.G280G ZDHHC6_uc001kzw.2_Silent_p.G276G|ZDHHC6_uc009xya.1_Silent_p.G280G NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 280 integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) CTTCAGGGACCCCTGACCACG 0.403 HABP2 3026 broad.mit.edu 37 10 115338385 115338385 + Splice_Site SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:115338385G>T uc001lai.3 + 7 672 c.569_splice c.e7-1 p.G190_splice HABP2_uc010qrz.1_Splice_Site|HABP2_uc010qry.1_Splice_Site NM_004132 NP_004123 Q14520 HABP2_HUMAN hyaluronan binding protein 2 preproprotein cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CTCTCTCGGAGGTTCTGATGA 0.517 NRAP 4892 broad.mit.edu 37 10 115402723 115402723 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:115402723G>A uc001laj.2 - 12 1349 c.1185C>T c.(1183-1185)AAC>AAT p.N395N NRAP_uc001lak.2_Intron|NRAP_uc001lal.3_Silent_p.N395N NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 395 Nebulin 9. N -> D (in Ref. 3; CAD38623). fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TCTTGCTCACGTTCCTGAATT 0.423 FGFR2 2263 broad.mit.edu 37 10 123276912 123276912 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:123276912C>A uc010qtk.1 - 8 1652 c.1005G>T c.(1003-1005)GAG>GAT p.E335D FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Missense_Mutation_p.E220D|FGFR2_uc010qti.1_Missense_Mutation_p.E246D|FGFR2_uc010qtj.1_Intron|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.E220D|FGFR2_uc001lfl.3_Intron|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.E354D|FGFR2_uc010qto.1_Missense_Mutation_p.E239D|FGFR2_uc001lfo.1_3'UTR|FGFR2_uc001lfg.3_Translation_Start_Site NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 335 Ig-like C2-type 3.|Extracellular (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CCCCAGCGTCCTCAAAAGTTA 0.448 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome DMBT1 1755 broad.mit.edu 37 10 124345846 124345846 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:124345846G>A uc001lgk.1 + 16 1836 c.1730G>A c.(1729-1731)GGC>GAC p.G577D DMBT1_uc001lgl.1_Missense_Mutation_p.G567D|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G577D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 577 SRCR 4. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCCCACAATGGCTGGCTCTCC 0.557 DMBT1 1755 broad.mit.edu 37 10 124348500 124348500 + Silent SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:124348500T>A uc001lgk.1 + 17 1930 c.1824T>A c.(1822-1824)GGT>GGA p.G608G DMBT1_uc001lgl.1_Silent_p.G598G|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.G608G|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 608 SRCR 5. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGAATGGAGGTGACAGGTGTC 0.547 GPR26 2849 broad.mit.edu 37 10 125447476 125447476 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:125447476G>A uc001lhh.2 + 3 867 c.814G>A c.(814-816)GGC>AGC p.G272S NM_153442 NP_703143 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 272 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) GGTGCCCATCGGCTCCCACTG 0.597 C10orf90 118611 broad.mit.edu 37 10 128193584 128193584 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:128193584T>G uc001ljq.2 - 3 306 c.185A>C c.(184-186)AAG>ACG p.K62T C10orf90_uc001ljp.2_Missense_Mutation_p.K15T|C10orf90_uc010qum.1_Missense_Mutation_p.K159T|C10orf90_uc009yao.2_Missense_Mutation_p.K159T|C10orf90_uc001ljs.1_Missense_Mutation_p.K15T NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 62 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TTCTCTTGACTTATTCTCATC 0.468 DPYSL4 10570 broad.mit.edu 37 10 134006199 134006199 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:134006199A>G uc009ybb.2 + 3 320 c.166A>G c.(166-168)AAG>GAG p.K56E NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 56 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) TGGGGGCATCAAGACCATTGA 0.582 KNDC1 85442 broad.mit.edu 37 10 135013091 135013091 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:135013091C>T uc001llz.1 + 15 2889 c.2888C>T c.(2887-2889)GCG>GTG p.A963V KNDC1_uc001lma.1_Missense_Mutation_p.A898V|KNDC1_uc001lmb.1_Missense_Mutation_p.A375V NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 963 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AACGGGCAGGCGTCACCCTCC 0.617 OR52A4 390053 broad.mit.edu 37 11 5142251 5142251 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:5142251G>A uc001lzz.1 - 1 558 c.558C>T c.(556-558)CGC>CGT p.R186R NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CAAGGGCCACGCGTTCACAGT 0.418 OR51B5 282763 broad.mit.edu 37 11 5364322 5364322 + Nonsense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:5364322C>A uc001map.1 - 1 433 c.433G>T c.(433-435)GGA>TGA p.G145* HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Nonsense_Mutation_p.G145* NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCAGAACTCCCAGCCCAATC 0.448 TRIM5 85363 broad.mit.edu 37 11 5701080 5701080 + Missense_Mutation SNP C C T rs146215995 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:5701080C>T uc001mbm.1 - 2 585 c.328G>A c.(328-330)GGG>AGG p.G110R TRIM5_uc001mbq.1_Missense_Mutation_p.G110R|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.G110R|TRIM5_uc001mbo.2_Missense_Mutation_p.G110R|TRIM5_uc001mbp.2_Missense_Mutation_p.G110R NM_033034 NP_149023 Q9C035 TRIM5_HUMAN tripartite motif protein TRIM5 isoform alpha 110 B box-type. G -> E. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) ATGACCTTCCCGTCCTCCTGA 0.547 KCNJ11 3767 broad.mit.edu 37 11 17408965 17408965 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:17408965C>T uc001mna.2 - 1 1242 c.674G>A c.(673-675)AGC>AAC p.S225N KCNJ11_uc001mnb.3_Missense_Mutation_p.S138N NM_000525 NP_000516 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel J11 225 integral to membrane ATP-activated inward rectifier potassium channel activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) GCCCTCGGGGCTGGTGGTCTT 0.637 OREG0020810 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KCNA4 3739 broad.mit.edu 37 11 30033740 30033740 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:30033740G>A uc001msk.2 - 2 1638 c.486C>T c.(484-486)GGC>GGT p.G162G NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 162 Poly-Gly. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGCCGCCACCGCCCTCATCCT 0.438 CCDC73 493860 broad.mit.edu 37 11 32624508 32624508 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:32624508G>A uc001mtv.2 - 18 3133 c.3089C>T c.(3088-3090)ACG>ATG p.T1030M NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 1030 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) ATTTTTAGTCGTCTTGATTGC 0.348 TCP11L1 55346 broad.mit.edu 37 11 33079684 33079684 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:33079684A>G uc001mud.2 + 5 1037 c.637A>G c.(637-639)AGA>GGA p.R213G TCP11L1_uc009yju.2_Missense_Mutation_p.R28G|TCP11L1_uc010rei.1_Missense_Mutation_p.R213G|TCP11L1_uc001mue.2_Missense_Mutation_p.R213G|TCP11L1_uc001muf.1_5'Flank NM_018393 NP_060863 Q9NUJ3 T11L1_HUMAN t-complex 11 (mouse) like 1 213 0 GCCCCTTTTCAGGTATGGAAA 0.313 LMO2 4005 broad.mit.edu 37 11 33881074 33881074 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:33881074C>T uc001mve.2 - 3 744 c.305G>A c.(304-306)CGT>CAT p.R102H LMO2_uc001mvc.2_Missense_Mutation_p.R95H|LMO2_uc001mvd.2_Missense_Mutation_p.R95H|LMO2_uc010rel.1_Missense_Mutation_p.R102H|LMO2_uc010rem.1_Missense_Mutation_p.R171H NM_001142316 NP_001135788 P25791 RBTN2_HUMAN LIM domain only 2 isoform 2 102 LIM zinc-binding 2. multicellular organismal development nucleus protein binding|zinc ion binding lung(1) 1 CTCATAGGCACGAATCCGCTT 0.478 T TRD@ T-ALL RAG1 5896 broad.mit.edu 37 11 36595310 36595310 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:36595310G>A uc001mwu.3 + 2 580 c.456G>A c.(454-456)CCG>CCA p.P152P RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 152 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) CTTCCTGGCCGGACCTCATTG 0.507 Familial_Hemophagocytic_Lymphohistiocytosis ALKBH3 221120 broad.mit.edu 37 11 43923097 43923097 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:43923097G>A uc001mxs.2 + 8 934 c.491G>A c.(490-492)CGC>CAC p.R164H ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Missense_Mutation_p.R17H NM_139178 NP_631917 Q96Q83 ALKB3_HUMAN AlkB homolog 3 164 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 Vitamin C(DB00126) CTAAAGAACCGCATTGAAGAG 0.493 Direct_reversal_of_damage ACCSL 390110 broad.mit.edu 37 11 44069844 44069844 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:44069844C>T uc001mxw.1 + 1 314 c.258C>T c.(256-258)GCC>GCT p.A86A ACCSL_uc009ykr.2_5'UTR NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 86 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 AGTCTGGGGCCGCGAGTGGCC 0.577 DDB2 1643 broad.mit.edu 37 11 47238526 47238526 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:47238526G>A uc001neb.2 + 3 577 c.382G>A c.(382-384)GCT>ACT p.A128T DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Intron|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.A128T|DDB2_uc001nef.2_Missense_Mutation_p.A114T|DDB2_uc001neg.2_5'UTR|DDB2_uc001neh.2_RNA NM_000107 NP_000098 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2 128 WD 1. nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding kidney(2)|ovary(1) 3 CAGCACTGTGGCTGTGGGTTC 0.532 Mis|N skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum MYBPC3 4607 broad.mit.edu 37 11 47363661 47363661 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:47363661G>A uc001nfa.3 - 17 1726 c.1671C>T c.(1669-1671)GGC>GGT p.G557G MYBPC3_uc010rhl.1_RNA NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 556 Ig-like C2-type 4. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) GGTCCTTTGCGCCCACCATCA 0.582 SPI1 6688 broad.mit.edu 37 11 47377075 47377075 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:47377075C>A uc001nfc.1 - 5 739 c.516G>T c.(514-516)CTG>CTT p.L172L MYBPC3_uc001nfa.3_5'Flank|SPI1_uc001nfb.1_Silent_p.L173L|SLC39A13_uc001nfd.2_Intron NM_003120 NP_003111 P17947 SPI1_HUMAN hematopoietic transcription factor PU.1 isoform 172 ETS. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1) 2 Lung(87;0.0967) GGAACTGGTACAGGCGGATCT 0.667 PSMC3 5702 broad.mit.edu 37 11 47446697 47446697 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:47446697G>A uc001nfh.2 - 3 454 c.260C>T c.(259-261)CCG>CTG p.P87L PSMC3_uc009ylr.1_Intron NM_002804 NP_002795 P17980 PRS6A_HUMAN proteasome 26S ATPase subunit 3 87 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity ovary(4) 4 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) GACAAGGTACGGCAGGGTCTT 0.512 OR4S1 256148 broad.mit.edu 37 11 48328289 48328289 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:48328289T>C uc010rhu.1 + 1 515 c.515T>C c.(514-516)ATA>ACA p.I172T NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCCAATGAGATAGACAACTTC 0.547 OR4C12 283093 broad.mit.edu 37 11 50003875 50003875 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:50003875A>G uc010ria.1 - 1 163 c.163T>C c.(163-165)TCC>CCC p.S55P NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TACATGGGGGAGCTCAGAGCC 0.423 OR4C46 119749 broad.mit.edu 37 11 51515486 51515486 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:51515486G>T uc010ric.1 + 1 205 c.205G>T c.(205-207)GCC>TCC p.A69S NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 69 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTTTATTGATGCCTGCTATTC 0.488 OR5D18 219438 broad.mit.edu 37 11 55587765 55587765 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:55587765G>A uc010rin.1 + 1 660 c.660G>A c.(658-660)GCG>GCA p.A220A NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) CATCTTATGCGTTCATTGTTG 0.483 OR9Q2 219957 broad.mit.edu 37 11 57958150 57958150 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:57958150T>G uc010rka.1 + 1 188 c.188T>G c.(187-189)CTC>CGC p.L63R NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) TACTTCTTCCTCAGCCACCTT 0.547 OR10W1 81341 broad.mit.edu 37 11 58034831 58034831 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:58034831T>C uc001nmq.1 - 1 902 c.500A>G c.(499-501)CAC>CGC p.H167R NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) ACAAAAGAAGTGCTCAATGCC 0.507 GLYATL1 92292 broad.mit.edu 37 11 58722275 58722275 + Silent SNP C C T rs142174775 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:58722275C>T uc001nnf.2 + 6 595 c.219C>T c.(217-219)AAC>AAT p.N73N uc001nng.1_Intron|GLYATL1_uc001nnh.1_Silent_p.N104N|GLYATL1_uc001nni.1_Silent_p.N73N|GLYATL1_uc001nnj.1_Silent_p.N73N Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 73 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) CATACACAAACGTATATCGTA 0.378 FAM111A 63901 broad.mit.edu 37 11 58920216 58920216 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:58920216T>C uc010rkp.1 + 5 1302 c.1075T>C c.(1075-1077)TAC>CAC p.Y359H FAM111A_uc010rkq.1_Missense_Mutation_p.Y359H|FAM111A_uc010rkr.1_Missense_Mutation_p.Y359H|FAM111A_uc001nno.2_Missense_Mutation_p.Y359H|FAM111A_uc001nnp.2_Missense_Mutation_p.Y359H|FAM111A_uc001nnq.2_Missense_Mutation_p.Y359H NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 359 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) CTCAGTTGGGTACTTATTCTG 0.373 OR4D9 390199 broad.mit.edu 37 11 59282557 59282557 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:59282557C>T uc010rkv.1 + 1 172 c.172C>T c.(172-174)CCC>TCC p.P58S NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTTCATACGCCCATGTACTT 0.433 MS4A4A 51338 broad.mit.edu 37 11 60059718 60059718 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:60059718C>T uc001noz.2 + 2 72 c.62C>T c.(61-63)ACA>ATA p.T21I MS4A4A_uc001npa.2_Missense_Mutation_p.T2I|MS4A4A_uc001npb.2_Missense_Mutation_p.T2I|MS4A4A_uc001npc.2_Missense_Mutation_p.T2I NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 21 Cytoplasmic (Potential). integral to membrane receptor activity 0 GCTGCCATGACAACCATGCAA 0.493 AHNAK 79026 broad.mit.edu 37 11 62297304 62297304 + Nonsense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:62297304C>A uc001ntl.2 - 5 4885 c.4585G>T c.(4585-4587)GAG>TAG p.E1529* AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1529 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATATCCACCTCTGGGCCCTCT 0.522 EEF1G 1937 broad.mit.edu 37 11 62338457 62338457 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:62338457G>T uc001ntm.1 - 5 648 c.502C>A c.(502-504)CTG>ATG p.L168M EEF1G_uc010rlw.1_Missense_Mutation_p.L218M|EEF1G_uc001ntn.1_Missense_Mutation_p.L48M NM_001404 NP_001395 P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 168 GST C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 AGCCACAACAGGGTGCAGACA 0.483 SLC22A6 9356 broad.mit.edu 37 11 62744336 62744336 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:62744336C>T uc001nwk.2 - 10 1929 c.1622G>A c.(1621-1623)CGA>CAA p.R541Q SLC22A6_uc001nwl.2_Missense_Mutation_p.R484Q|SLC22A6_uc001nwj.2_Missense_Mutation_p.R528Q|SLC22A6_uc001nwm.2_Missense_Mutation_p.R497Q NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN solute carrier family 22 member 6 isoform a 541 Cytoplasmic (Potential). alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding 0 TTGTTGCTGTCGCGTCTGTTT 0.582 CDC42BPG 55561 broad.mit.edu 37 11 64595231 64595231 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:64595231A>G uc001obs.3 - 31 3992 c.3992T>C c.(3991-3993)GTG>GCG p.V1331A NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1331 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 CTCGCTGAACACTGTCAGGTA 0.622 BATF2 116071 broad.mit.edu 37 11 64757176 64757176 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:64757176A>G uc001ocf.1 - 3 381 c.250T>C c.(250-252)TGC>CGC p.C84R BATF2_uc001oce.1_5'UTR NM_138456 NP_612465 Q8N1L9 BATF2_HUMAN basic leucine zipper transcription factor, 84 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TCCATGGGGCACAGGCGCTCA 0.667 LTBP3 4054 broad.mit.edu 37 11 65319552 65319552 + Silent SNP G G A rs111330939 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:65319552G>A uc001oej.2 - 8 1691 c.1422C>T c.(1420-1422)GGC>GGT p.G474G LTBP3_uc001oeh.2_5'Flank|LTBP3_uc010roi.1_Silent_p.G357G|LTBP3_uc001oei.2_Silent_p.G474G|LTBP3_uc010roj.1_Silent_p.G175G|LTBP3_uc010rok.1_Silent_p.G385G NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 474 extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 AGTCACTCTCGCCCTGAATGG 0.597 OREG0021081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) EHBP1L1 254102 broad.mit.edu 37 11 65347891 65347891 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:65347891A>G uc001oeo.3 + 6 840 c.575A>G c.(574-576)GAT>GGT p.D192G EHBP1L1_uc001oep.1_5'Flank NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN tangerin 192 central_nervous_system(1) 1 GCTGAGAGTGATGAAGATGAG 0.597 FIBP 9158 broad.mit.edu 37 11 65652091 65652091 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:65652091G>A uc001ogd.2 - 8 998 c.877C>T c.(877-879)CTG>TTG p.L293L FIBP_uc009yqu.2_Silent_p.L283L|FIBP_uc001oge.2_Silent_p.L286L NM_198897 NP_942600 O43427 FIBP_HUMAN FGF intracellular binding protein isoform a 293 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding ovary(1) 1 READ - Rectum adenocarcinoma(159;0.166) TTGTGGGTCAGCTTGGCGGCC 0.582 OREG0021089 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CATSPER1 117144 broad.mit.edu 37 11 65792929 65792929 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:65792929C>T uc001ogt.2 - 1 1060 c.922G>A c.(922-924)GCG>ACG p.A308T NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 308 His-rich.|Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 GAATGATACGCGCCgtggtgg 0.308 RAB1B 81876 broad.mit.edu 37 11 66039698 66039698 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:66039698A>G uc001ohf.2 + 3 253 c.158A>G c.(157-159)GAT>GGT p.D53G uc001ohg.1_RNA NM_030981 NP_112243 Q9H0U4 RAB1B_HUMAN RAB1B, member RAS oncogene family 53 protein transport|small GTPase mediated signal transduction Golgi apparatus|membrane GTP binding|protein binding 0 ATCGAGCTGGATGGCAAAACT 0.512 BRMS1 25855 broad.mit.edu 37 11 66109071 66109071 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:66109071G>A uc001ohp.1 - 3 310 c.163C>T c.(163-165)CGA>TGA p.R55* BRMS1_uc001oho.1_Nonsense_Mutation_p.R55*|BRMS1_uc009yre.2_5'Flank NM_015399 NP_056214 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 isoform 1 55 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding 0 CTGCGGCGTCGCTCATAGTCC 0.527 RBM4B 83759 broad.mit.edu 37 11 66436136 66436136 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:66436136G>A uc001oja.2 - 2 1708 c.1039C>T c.(1039-1041)CGG>TGG p.R347W RBM4B_uc001ojb.2_Missense_Mutation_p.R347W NM_031492 NP_113680 Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 347 Interaction with TNPO3 (By similarity). circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding 0 TACTGCTCCCGTTCATACCGG 0.502 CORO1B 57175 broad.mit.edu 37 11 67208646 67208646 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:67208646T>C uc001olj.1 - 5 742 c.706A>G c.(706-708)ACC>GCC p.T236A CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.T236A|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.T236A|CORO1B_uc010rps.1_Missense_Mutation_p.T236A NM_020441 NP_065174 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 236 WD 4. actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding large_intestine(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) AAGCCTGTGGTGAACACCTTG 0.672 GPR152 390212 broad.mit.edu 37 11 67218801 67218801 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:67218801C>T uc001olm.2 - 1 1400 c.1395G>A c.(1393-1395)CCG>CCA p.P465P uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 465 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GGCCTGCGCCCGGGGCCGCCT 0.682 ANO1 55107 broad.mit.edu 37 11 70007826 70007826 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:70007826T>C uc001opj.2 + 18 2184 c.1879T>C c.(1879-1881)TTC>CTC p.F627L ANO1_uc001opk.1_Missense_Mutation_p.F569L|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.F336L NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 627 Helical; (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 TTACGTGGCGTTCTTCAAAGG 0.552 RNF121 55298 broad.mit.edu 37 11 71705854 71705854 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:71705854A>C uc001ora.2 + 7 1057 c.717A>C c.(715-717)GAA>GAC p.E239D RNF121_uc001ord.2_Missense_Mutation_p.E158D|RNF121_uc001orb.2_Missense_Mutation_p.E207D|RNF121_uc009yst.2_Intron NM_018320 NP_060790 Q9H920 RN121_HUMAN ring finger protein 121 239 RING-type; atypical. integral to membrane zinc ion binding 0 ACGTCAGTGAAGAGGGGATCA 0.517 C11orf51 25906 broad.mit.edu 37 11 71822201 71822201 + Splice_Site SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:71822201A>G uc001orw.2 - 3 342 c.120_splice c.e3+1 p.W40_splice C11orf51_uc009ytc.1_Intron|C11orf51_uc001orv.2_Splice_Site_p.W40_splice NM_014042 NP_054761 P60006 CK051_HUMAN hypothetical protein LOC25906 intracellular 0 CTGCTCACTCACCCAGGCCTG 0.557 CLPB 81570 broad.mit.edu 37 11 72013356 72013356 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:72013356G>A uc001osj.2 - 11 1299 c.1249C>T c.(1249-1251)CGA>TGA p.R417* CLPB_uc010rqx.1_Nonsense_Mutation_p.R372*|CLPB_uc010rqy.1_Nonsense_Mutation_p.R358*|CLPB_uc001osk.2_Nonsense_Mutation_p.R387*|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Nonsense_Mutation_p.R216*|CLPB_uc001osi.2_Nonsense_Mutation_p.R25* NM_030813 NP_110440 Q9H078 CLPB_HUMAN caseinolytic peptidase B 417 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding pancreas(1) 1 ACCTCGTGTCGCTCCTGGAAC 0.522 CTSC 1075 broad.mit.edu 37 11 88027550 88027550 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:88027550C>T uc001pck.3 - 7 1117 c.1016G>A c.(1015-1017)CGT>CAT p.R339H CTSC_uc001pcl.3_Missense_Mutation_p.R191H NM_001814 NP_001805 P53634 CATC_HUMAN cathepsin C isoform a preproprotein 339 R -> C (in PLS). immune response lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GGAGTAATAACGAAAGCAGTC 0.483 FAT3 120114 broad.mit.edu 37 11 92430571 92430571 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:92430571G>T uc001pdj.3 + 3 3646 c.3629G>T c.(3628-3630)AGG>ATG p.R1210M NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1210 Cadherin 11.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACAACTTCAAGGAAATTGGAT 0.383 TCGA Ovarian(4;0.039) MAML2 84441 broad.mit.edu 37 11 95712275 95712275 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:95712275C>A uc001pfw.1 - 5 4593 c.3308G>T c.(3307-3309)AGC>ATC p.S1103I NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 1103 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TAAGTCACTGCTGTGGTCAGT 0.473 T MECT1|CRTC3 salivary gland mucoepidermoid MMP1 4312 broad.mit.edu 37 11 102667472 102667472 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:102667472T>C uc001phi.2 - 4 691 c.548A>G c.(547-549)CAT>CGT p.H183R uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.H117R NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 183 Metalloprotease. Zinc 1. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) TTGAAAAGCATGAGCAAGATT 0.423 GUCY1A2 2977 broad.mit.edu 37 11 106810870 106810870 + Silent SNP A A G rs61736490 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:106810870A>G uc001pjg.1 - 4 912 c.522T>C c.(520-522)GGT>GGC p.G174G GUCY1A2_uc010rvo.1_Silent_p.G174G|GUCY1A2_uc009yxn.1_Silent_p.G174G NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 174 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AGAACTCTTCACCAAATCTTT 0.338 ZC3H12C 85463 broad.mit.edu 37 11 110030105 110030105 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:110030105G>A uc009yxw.2 + 4 1089 c.1038G>A c.(1036-1038)TCG>TCA p.S346S ZC3H12C_uc010rwc.1_Silent_p.S347S|ZC3H12C_uc010rwd.1_Silent_p.S347S|ZC3H12C_uc001pkr.3_Silent_p.S315S|ZC3H12C_uc001pkq.2_Silent_p.S315S NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 346 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) CTTTTGAGTCGGACGGTATCA 0.463 ZBTB16 7704 broad.mit.edu 37 11 113934373 113934373 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:113934373G>A uc001pop.2 + 2 615 c.351G>A c.(349-351)CAG>CAA p.Q117Q ZBTB16_uc001poo.1_Silent_p.Q117Q|ZBTB16_uc001poq.2_Silent_p.Q117Q NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 117 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TGGAGGAACAGTGCCTGAAGA 0.602 ZBTB16 7704 broad.mit.edu 37 11 114121133 114121133 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:114121133C>T uc001pop.2 + 7 2142 c.1878C>T c.(1876-1878)GGC>GGT p.G626G ZBTB16_uc001poq.2_Silent_p.G626G NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 626 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CGCACAACGGCGCCTCGCCCT 0.627 CADM1 23705 broad.mit.edu 37 11 115111047 115111047 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:115111047A>G uc001ppi.3 - 2 347 c.218T>C c.(217-219)GTG>GCG p.V73A CADM1_uc001ppf.3_Missense_Mutation_p.V73A|CADM1_uc001ppk.3_Missense_Mutation_p.V73A|CADM1_uc001ppj.3_Missense_Mutation_p.V73A|CADM1_uc001ppl.2_Missense_Mutation_p.V73A NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 73 Ig-like V-type.|Extracellular (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TAGCTGAATCACAGAGTCGTC 0.438 CEP164 22897 broad.mit.edu 37 11 117222588 117222588 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:117222588C>T uc001prc.2 + 5 424 c.277C>T c.(277-279)CGG>TGG p.R93W CEP164_uc001prb.2_Missense_Mutation_p.R93W|CEP164_uc001prd.2_Missense_Mutation_p.R93W|CEP164_uc010rxj.1_Missense_Mutation_p.R47W|CEP164_uc010rxk.1_Missense_Mutation_p.R93W NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 93 Interaction with ATRIP. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CGAACACTATCGGAGCTTGGT 0.423 GRAMD1B 57476 broad.mit.edu 37 11 123464792 123464792 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:123464792G>A uc001pyx.2 + 4 587 c.258G>A c.(256-258)GTG>GTA p.V86V GRAMD1B_uc001pyw.2_Silent_p.V93V|GRAMD1B_uc010rzw.1_Silent_p.V46V|GRAMD1B_uc010rzx.1_Silent_p.V46V|GRAMD1B_uc009zbe.1_Silent_p.V82V NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 86 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TCACGCAGGTGTTAAGCCCCA 0.498 OR6M1 390261 broad.mit.edu 37 11 123676673 123676673 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:123676673G>A uc010rzz.1 - 1 385 c.385C>T c.(385-387)CAC>TAC p.H129Y NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) ACCGTGTAGTGCAGTGGGTCG 0.517 ST3GAL4 6484 broad.mit.edu 37 11 126278260 126278260 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:126278260C>T uc001qds.2 + 8 715 c.496C>T c.(496-498)CGT>TGT p.R166C ST3GAL4_uc001qdt.2_Missense_Mutation_p.R162C|ST3GAL4_uc009zcc.2_Missense_Mutation_p.R2C|ST3GAL4_uc009zcd.2_Missense_Mutation_p.R155C|ST3GAL4_uc001qdu.2_Missense_Mutation_p.R162C|ST3GAL4_uc001qdv.2_Missense_Mutation_p.R166C|ST3GAL4_uc009zce.2_Missense_Mutation_p.R162C|ST3GAL4_uc001qdw.2_Missense_Mutation_p.R155C|ST3GAL4_uc001qdx.1_Missense_Mutation_p.R123C|ST3GAL4_uc001qdy.2_Missense_Mutation_p.R2C|ST3GAL4_uc001qdz.2_Missense_Mutation_p.R2C NM_006278 NP_006269 Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 166 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) GACCACCATGCGTCTCTTCTA 0.552 C11orf45 219833 broad.mit.edu 37 11 128774355 128774355 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:128774355G>T uc001qeu.2 - 2 301 c.107C>A c.(106-108)CCC>CAC p.P36H KCNJ5_uc001qet.2_Intron|KCNJ5_uc009zck.2_Intron|C11orf45_uc009zcl.2_Missense_Mutation_p.P36H|C11orf45_uc001qev.2_Missense_Mutation_p.P36H NM_145013 NP_659450 Q8TAV5 CK045_HUMAN hypothetical protein LOC219833 precursor 36 extracellular region 0 all_hematologic(175;0.0641) Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195) CCAGATTCtgggactaggcat 0.144 KCNJ5 3762 broad.mit.edu 37 11 128781942 128781942 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:128781942C>T uc001qet.2 + 2 1088 c.774C>T c.(772-774)AAC>AAT p.N258N KCNJ5_uc009zck.2_Silent_p.N258N|KCNJ5_uc001qew.2_Silent_p.N258N NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 258 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) CAGACATCAACGTGGGCTTTG 0.577 ERC1 23085 broad.mit.edu 37 12 1213982 1213982 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:1213982G>A uc001qjb.2 + 4 1394 c.1153G>A c.(1153-1155)GAG>AAG p.E385K ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.E385K|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.E385K|ERC1_uc010sdv.1_Missense_Mutation_p.E161K|ERC1_uc009zdp.2_Missense_Mutation_p.E22K NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 385 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) AACTGTTATTGAGATGAAGGT 0.373 PARP11 57097 broad.mit.edu 37 12 3921464 3921464 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:3921464C>A uc001qmk.1 - 7 876 c.821G>T c.(820-822)CGA>CTA p.R274L PARP11_uc001qml.2_Missense_Mutation_p.R281L|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.R200L|PARP11_uc001qmn.2_Missense_Mutation_p.R200L NM_020367 NP_065100 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 274 PARP catalytic. NAD+ ADP-ribosyltransferase activity ovary(1)|central_nervous_system(1) 2 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) AATTAGCACTCGAGCAAGAAA 0.408 VWF 7450 broad.mit.edu 37 12 6131131 6131131 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:6131131G>A uc001qnn.1 - 27 3859 c.3609C>T c.(3607-3609)GGC>GGT p.G1203G VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1203 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CAAAACGCCGGCCAGCCACCT 0.488 VWF 7450 broad.mit.edu 37 12 6161758 6161758 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:6161758C>T uc001qnn.1 - 16 2387 c.2137G>A c.(2137-2139)GGT>AGT p.G713S VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 713 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) AAGATCTCACCGTCATAGTAA 0.532 ACRBP 84519 broad.mit.edu 37 12 6749364 6749364 + Silent SNP G G A rs143853195 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:6749364G>A uc001qpu.1 - 8 1335 c.1287C>T c.(1285-1287)TAC>TAT p.Y429Y LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.Y396Y NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 429 acrosomal vesicle|extracellular region central_nervous_system(1) 1 AATCCAGCCCGTAAAAGCGGC 0.632 SPSB2 84727 broad.mit.edu 37 12 6981674 6981674 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:6981674C>T uc001qrl.2 - 2 548 c.392G>A c.(391-393)TGG>TAG p.W131* SPSB2_uc001qrm.2_Nonsense_Mutation_p.W131*|SPSB2_uc010sfp.1_Nonsense_Mutation_p.W131*|LRRC23_uc001qrn.1_5'Flank NM_001146316 NP_001139788 Q99619 SPSB2_HUMAN splA/ryanodine receptor domain and SOCS box 131 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding kidney(1) 1 GTCCCAGCCCCACGACTCGCT 0.701 OREG0021639 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C1RL 51279 broad.mit.edu 37 12 7249058 7249058 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:7249058C>A uc001qsn.2 - 6 1410 c.1393G>T c.(1393-1395)GGG>TGG p.G465W C1RL_uc009zft.2_3'UTR NM_016546 NP_057630 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 465 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity pancreas(1) 1 AAGTCATACCCTTCGCCACAC 0.567 ATF7IP 55729 broad.mit.edu 37 12 14577496 14577496 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:14577496C>A uc001rbw.2 + 2 805 c.647C>A c.(646-648)CCT>CAT p.P216H ATF7IP_uc010shs.1_Missense_Mutation_p.P216H|ATF7IP_uc001rbu.2_Missense_Mutation_p.P216H|ATF7IP_uc001rbv.1_Missense_Mutation_p.P216H|ATF7IP_uc001rbx.2_Missense_Mutation_p.P216H|ATF7IP_uc010sht.1_Missense_Mutation_p.P216H|ATF7IP_uc001rby.3_Missense_Mutation_p.P216H|ATF7IP_uc001rbz.1_Missense_Mutation_p.P216H|ATF7IP_uc001rca.2_Missense_Mutation_p.P216H|ATF7IP_uc001rcb.2_5'Flank NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 216 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 GAACCGGTCCCTGTTGAACCC 0.522 PTPRO 5800 broad.mit.edu 37 12 15650227 15650227 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:15650227C>T uc001rcv.1 + 3 572 c.398C>T c.(397-399)CCT>CTT p.P133L PTPRO_uc001rcw.1_Missense_Mutation_p.P133L|PTPRO_uc001rcu.1_Missense_Mutation_p.P133L NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 133 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) AAACCTTCTCCTGAAACAGGA 0.383 PIK3C2G 5288 broad.mit.edu 37 12 18719882 18719882 + Splice_Site SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:18719882G>T uc001rdt.2 + 28 3896 c.3780_splice c.e28-1 p.E1260_splice PIK3C2G_uc010sia.1_Splice_Site|PIK3C2G_uc010sib.1_Splice_Site_p.E1301_splice|PIK3C2G_uc010sic.1_Splice_Site_p.E1079_splice NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) TCTTAAAACAGGTTTCCTCAT 0.338 SLCO1C1 53919 broad.mit.edu 37 12 20868189 20868189 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:20868189G>A uc001rej.3 + 7 1001 c.646G>A c.(646-648)GCC>ACC p.A216T SLCO1C1_uc010sii.1_Missense_Mutation_p.A216T|SLCO1C1_uc010sij.1_Intron|SLCO1C1_uc009zip.2_Missense_Mutation_p.A50T|SLCO1C1_uc001rei.2_Missense_Mutation_p.A216T|SLCO1C1_uc010sik.1_Missense_Mutation_p.A98T NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 216 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) GGATGATTTTGCCAGTGAAGA 0.423 SLCO1B3 28234 broad.mit.edu 37 12 21242842 21242842 + Silent SNP A A T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:21242842A>T uc010sil.1 + 16 2114 c.2049A>T c.(2047-2049)GGA>GGT p.G683G LST-3TM12_uc010sim.1_Silent_p.G622G|LST-3TM12_uc010sin.1_Silent_p.G575G Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) CTTTTCACAGAAGAGCCTTCT 0.294 IAPP 3375 broad.mit.edu 37 12 21531349 21531349 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:21531349T>A uc001rev.2 + 3 411 c.259T>A c.(259-261)TTG>ATG p.L87M SLCO1A2_uc001res.2_Intron|SLCO1A2_uc010siq.1_Intron NM_000415 NP_000406 P10997 IAPP_HUMAN islet amyloid polypeptide precursor 87 apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction extracellular region|soluble fraction hormone activity 0 Perindopril(DB00790) ACTGAATTACTTGCCCCTTTA 0.383 ABCC9 10060 broad.mit.edu 37 12 21971084 21971084 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:21971084C>T uc001rfi.1 - 30 3791 c.3771G>A c.(3769-3771)ACG>ACA p.T1257T ABCC9_uc001rfh.2_Silent_p.T1257T|ABCC9_uc001rfj.1_Silent_p.T1221T NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1257 Helical; Name=15; (Potential).|ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCATACCTACCGTAAGTGCAT 0.254 CASC1 55259 broad.mit.edu 37 12 25302613 25302613 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:25302613C>T uc001rgl.2 - 6 598 c.516G>A c.(514-516)CTG>CTA p.L172L CASC1_uc001rgk.2_Silent_p.L178L|CASC1_uc001rgm.3_Silent_p.L236L|CASC1_uc001rgj.2_Silent_p.L132L|CASC1_uc010sje.1_Silent_p.L113L|CASC1_uc010sjf.1_Silent_p.L60L|CASC1_uc010sjg.1_Silent_p.L172L NM_001082973 NP_001076442 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 isoform b 172 ovary(2) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) GGAGCTCCTGCAGTTGTAGTA 0.299 ITPR2 3709 broad.mit.edu 37 12 26636652 26636652 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:26636652C>A uc001rhg.2 - 42 6408 c.5991G>T c.(5989-5991)CAG>CAT p.Q1997H ITPR2_uc009zjg.1_Missense_Mutation_p.Q148H NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1997 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) GGCAAGGGCCCTGGCAATACT 0.468 PPFIBP1 8496 broad.mit.edu 37 12 27842020 27842020 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:27842020C>T uc001ric.1 + 26 2964 c.2587C>T c.(2587-2589)CGA>TGA p.R863* PPFIBP1_uc010sjr.1_Nonsense_Mutation_p.R694*|PPFIBP1_uc001rib.1_Nonsense_Mutation_p.R857*|PPFIBP1_uc001ria.2_Nonsense_Mutation_p.R832*|PPFIBP1_uc001rid.1_Nonsense_Mutation_p.R710*|PPFIBP1_uc001rif.1_Nonsense_Mutation_p.R370* NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 863 SAM 3. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) GACTTTGCTGCGAAGACATTT 0.438 ADCY6 112 broad.mit.edu 37 12 49165630 49165630 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:49165630A>G uc001rsh.3 - 18 3574 c.2914T>C c.(2914-2916)TAT>CAT p.Y972H ADCY6_uc001rsj.3_Missense_Mutation_p.Y972H|ADCY6_uc001rsi.3_Missense_Mutation_p.Y919H|ADCY6_uc010slw.1_Missense_Mutation_p.Y203H NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 972 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 ATP binding|metal ion binding 0 CACGACTGATAGTAGAGTTCA 0.552 MLL2 8085 broad.mit.edu 37 12 49415918 49415918 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:49415918A>C uc001rta.3 - 53 16429 c.16429T>G c.(16429-16431)TGT>GGT p.C5477G NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5477 SET. Zinc (By similarity). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TTAGGGGCACAGGAATGGTTA 0.512 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) KCNH3 23416 broad.mit.edu 37 12 49948282 49948282 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:49948282G>A uc001ruh.1 + 11 2341 c.2081G>A c.(2080-2082)CGT>CAT p.R694H KCNH3_uc010smj.1_Missense_Mutation_p.R634H NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 694 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 CGCTTCAGTCGTGGCCTCCGA 0.652 PRPF40B 25766 broad.mit.edu 37 12 50025218 50025218 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:50025218C>T uc001rur.1 + 2 117 c.53C>T c.(52-54)CCG>CTG p.P18L PRPF40B_uc001rup.1_Missense_Mutation_p.P40L|PRPF40B_uc001ruq.1_Missense_Mutation_p.P12L|PRPF40B_uc001rus.1_5'Flank NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 18 Pro-rich. mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 CCCTTTCCTCCGATGGGGCTA 0.602 SLC4A8 9498 broad.mit.edu 37 12 51882498 51882498 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:51882498C>T uc001rys.1 + 18 2480 c.2302C>T c.(2302-2304)CGC>TGC p.R768C SLC4A8_uc001rym.2_Missense_Mutation_p.R715C|SLC4A8_uc001ryn.2_Missense_Mutation_p.R715C|SLC4A8_uc001ryo.2_Missense_Mutation_p.R715C|SLC4A8_uc010snj.1_Missense_Mutation_p.R795C|SLC4A8_uc001ryr.2_Missense_Mutation_p.R768C NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 768 Extracellular (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) AAGGGATGATCGCGGATGGAT 0.378 CSAD 51380 broad.mit.edu 37 12 53565756 53565756 + Missense_Mutation SNP C C T rs138203066 by1000genomes TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:53565756C>T uc001sby.2 - 6 487 c.361G>A c.(361-363)GCC>ACC p.A121T CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.A148T|CSAD_uc001sbz.2_Missense_Mutation_p.A121T|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_Missense_Mutation_p.A121T NM_015989 NP_057073 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 121 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity ovary(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) AACACGGGGGCGATTTCATAT 0.562 Hereditary_Prostate_Cancer CALCOCO1 57658 broad.mit.edu 37 12 54115307 54115307 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:54115307C>A uc001sef.2 - 6 846 c.702G>T c.(700-702)GAG>GAT p.E234D CALCOCO1_uc010som.1_Missense_Mutation_p.E201D|CALCOCO1_uc010son.1_Missense_Mutation_p.E111D|CALCOCO1_uc001seh.2_Missense_Mutation_p.E234D|CALCOCO1_uc009znd.2_Missense_Mutation_p.E234D|CALCOCO1_uc001seg.2_Missense_Mutation_p.E111D|CALCOCO1_uc010soo.1_Missense_Mutation_p.E227D NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 234 Potential. steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 GGATGTCATCCTCTAGCTCCA 0.567 HOXC6 3223 broad.mit.edu 37 12 54422366 54422366 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:54422366C>T uc001sev.2 + 1 173 c.61C>T c.(61-63)CTC>TTC p.L21F HOXC6_uc001ses.2_5'UTR|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron NM_004503 NP_004494 P09630 HXC6_HUMAN homeobox C6 isoform 1 21 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|upper_aerodigestive_tract(1) 3 CCAGGACGTCCTCCCCAACGT 0.542 NCKAP1L 3071 broad.mit.edu 37 12 54913073 54913073 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:54913073G>A uc001sgc.3 + 16 1661 c.1582G>A c.(1582-1584)GTA>ATA p.V528I NCKAP1L_uc010sox.1_Missense_Mutation_p.V70I|NCKAP1L_uc010soy.1_Missense_Mutation_p.V478I NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 528 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 GCTGGACTCCGTAGAAAAATT 0.433 NCKAP1L 3071 broad.mit.edu 37 12 54920460 54920460 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:54920460G>A uc001sgc.3 + 21 2384 c.2305G>A c.(2305-2307)GCC>ACC p.A769T NCKAP1L_uc010sox.1_Missense_Mutation_p.A311T|NCKAP1L_uc010soy.1_Missense_Mutation_p.A719T NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 769 NA -> KP (in Ref. 1; AAA35964). actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 CATCCGCAACGCCCTCCTGCA 0.517 OR6C70 390327 broad.mit.edu 37 12 55863562 55863562 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:55863562A>G uc010spn.1 - 1 361 c.361T>C c.(361-363)TAT>CAT p.Y121H NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ATGGCAACATAGCGATCATAG 0.388 ERBB3 2065 broad.mit.edu 37 12 56487323 56487323 + Missense_Mutation SNP G G A rs149951770 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:56487323G>A uc001sjh.2 + 12 1662 c.1469G>A c.(1468-1470)CGC>CAC p.R490H ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R431H|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.R58H NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 490 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AATCGGCCGCGCAGAGACTGC 0.567 ERBB3 2065 broad.mit.edu 37 12 56495459 56495459 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:56495459C>A uc001sjh.2 + 28 3842 c.3649C>A c.(3649-3651)CTT>ATT p.L1217I ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.L574I|ERBB3_uc010sqc.1_Missense_Mutation_p.L1158I|ERBB3_uc009zok.2_Missense_Mutation_p.L482I|ERBB3_uc001sjk.2_Missense_Mutation_p.L458I|ERBB3_uc001sjl.2_Missense_Mutation_p.L337I|PA2G4_uc001sjm.2_5'Flank|PA2G4_uc009zol.2_5'Flank|PA2G4_uc009zom.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 1217 Cytoplasmic (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GCCAAGTTCCCTTGAGGAGCT 0.537 ESYT1 23344 broad.mit.edu 37 12 56532561 56532561 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:56532561G>A uc001sjq.2 + 23 2493 c.2443G>A c.(2443-2445)GGC>AGC p.G815S ESYT1_uc001sjr.2_Missense_Mutation_p.G825S NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 815 C2 4. integral to membrane ovary(4)|skin(1) 5 GCTGCGAAAAGGCACCAAGCA 0.448 TIMELESS 8914 broad.mit.edu 37 12 56811689 56811689 + Splice_Site SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:56811689A>G uc001slf.2 - 28 3724 c.3556_splice c.e28+1 p.A1186_splice NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 CAAATTCCCTACCTCTGTTCC 0.463 TIMELESS 8914 broad.mit.edu 37 12 56817369 56817369 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:56817369G>A uc001slf.2 - 17 2257 c.2089C>T c.(2089-2091)CGC>TGC p.R697C NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 697 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 AGCCCGCACCGTTTCAGGTAG 0.418 PRIM1 5557 broad.mit.edu 37 12 57128007 57128007 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:57128007T>C uc001smd.2 - 12 1231 c.1167A>G c.(1165-1167)GCA>GCG p.A389A NM_000946 NP_000937 P49642 PRI1_HUMAN DNA primase polypeptide 1 389 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 DNA primase activity|metal ion binding 0 TCACATAAGGTGCTAGACTGG 0.328 MARS 4141 broad.mit.edu 37 12 57906639 57906639 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:57906639A>G uc001sog.2 + 15 1882 c.1859A>G c.(1858-1860)TAT>TGT p.Y620C MARS_uc001sof.1_RNA|MARS_uc010srq.1_Missense_Mutation_p.Y386C|MARS_uc001soh.1_Missense_Mutation_p.Y15C NM_004990 NP_004981 P56192 SYMC_HUMAN methionyl-tRNA synthetase 620 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding ovary(3)|central_nervous_system(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TGGCGCTTCTATCTGCTGTAC 0.547 DYRK2 8445 broad.mit.edu 37 12 68051258 68051258 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:68051258C>T uc001str.3 + 3 973 c.571C>T c.(571-573)CGC>TGC p.R191C DYRK2_uc001sts.3_Missense_Mutation_p.R118C NM_006482 NP_006473 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 191 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(1)|central_nervous_system(1) 4 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) TGCTAAGAAGCGCCAGGGCAT 0.473 DYRK2 8445 broad.mit.edu 37 12 68052038 68052038 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:68052038C>T uc001str.3 + 3 1753 c.1351C>T c.(1351-1353)CGA>TGA p.R451* DYRK2_uc001sts.3_Nonsense_Mutation_p.R378* NM_006482 NP_006473 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 451 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(1)|central_nervous_system(1) 4 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) TGCATCCAAACGAGCCAAAAA 0.547 BBS10 79738 broad.mit.edu 37 12 76739774 76739774 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:76739774G>A uc001syd.1 - 2 2075 c.1991C>T c.(1990-1992)GCA>GTA p.A664V NM_024685 NP_078961 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 664 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding ovary(1)|skin(1) 2 GGTTTGCAGTGCATGGACAGC 0.373 Bardet-Biedl_syndrome NAV3 89795 broad.mit.edu 37 12 78400518 78400518 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:78400518G>A uc001syp.2 + 8 1373 c.1200G>A c.(1198-1200)CCG>CCA p.P400P NAV3_uc001syo.2_Silent_p.P400P NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 400 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TACGCCCCCCGCAGCCTCCCA 0.502 HNSCC(70;0.22) PLXNC1 10154 broad.mit.edu 37 12 94631565 94631565 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:94631565C>A uc001tdc.2 + 10 2355 c.2106C>A c.(2104-2106)ACC>ACA p.T702T NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 702 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 GAACCAGTACCTGTGATAAGG 0.408 LTA4H 4048 broad.mit.edu 37 12 96412962 96412962 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:96412962G>A uc001ten.1 - 7 763 c.695C>T c.(694-696)GCT>GTT p.A232V LTA4H_uc010suy.1_Missense_Mutation_p.A194V|LTA4H_uc010suz.1_Missense_Mutation_p.A194V|LTA4H_uc010sva.1_RNA NM_000895 NP_000886 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 232 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1) 1 AAACTCATAAGCAGACTTTTC 0.353 DRAM1 55332 broad.mit.edu 37 12 102302036 102302036 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:102302036C>A uc001tix.2 + 4 878 c.415C>A c.(415-417)CTA>ATA p.L139I DRAM1_uc010svv.1_Intron NM_018370 NP_060840 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 139 apoptosis|autophagy integral to membrane|lysosomal membrane ovary(1) 1 GTACACGCTCCTACAGTCCAT 0.498 STAB2 55576 broad.mit.edu 37 12 104160109 104160109 + Missense_Mutation SNP C C G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:104160109C>G uc001tjw.2 + 69 7837 c.7651C>G c.(7651-7653)CTG>GTG p.L2551V STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 2551 Cytoplasmic (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CTTGAGGACACTGTGAGGGCC 0.542 NUAK1 9891 broad.mit.edu 37 12 106464587 106464587 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:106464587C>T uc001tlj.1 - 6 2177 c.797G>A c.(796-798)AGC>AAC p.S266N NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 266 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 CTCTCCGCTGCTGATTTGCCG 0.547 NUAK1 9891 broad.mit.edu 37 12 106480539 106480539 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:106480539G>A uc001tlj.1 - 3 1866 c.486C>T c.(484-486)ATC>ATT p.I162I NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 162 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 CAGCAGAGACGATCTGCCGGA 0.507 ACACB 32 broad.mit.edu 37 12 109604665 109604665 + Splice_Site SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:109604665G>T uc001tob.2 + 3 773 c.654_splice c.e3-1 p.R218_splice ACACB_uc001toc.2_Splice_Site_p.R218_splice NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TTATTCTGCAGGCCGAGCATG 0.572 ACACB 32 broad.mit.edu 37 12 109675059 109675059 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:109675059C>T uc001tob.2 + 34 4655 c.4536C>T c.(4534-4536)GCC>GCT p.A1512A ACACB_uc001toc.2_Silent_p.A1512A|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.A178A NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1512 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) ATCTGACCGCCGTGCCCTGTG 0.552 ACACB 32 broad.mit.edu 37 12 109680283 109680283 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:109680283C>T uc001tob.2 + 37 5183 c.5064C>T c.(5062-5064)CAC>CAT p.H1688H ACACB_uc001toc.2_Silent_p.H1688H|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.H354H NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1688 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GGCCCCAGCACGGGATGCTGA 0.537 ATP2A2 488 broad.mit.edu 37 12 110781180 110781180 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:110781180G>A uc001tqk.3 + 16 3025 c.2462G>A c.(2461-2463)CGG>CAG p.R821Q ATP2A2_uc001tql.3_Missense_Mutation_p.R821Q|ATP2A2_uc010sxy.1_Missense_Mutation_p.R794Q|ATP2A2_uc001tqn.3_5'Flank|ATP2A2_uc009zvn.2_5'Flank NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 821 Cytoplasmic (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 AAACCTCCCCGGAACCCAAAG 0.463 ATXN2 6311 broad.mit.edu 37 12 111893896 111893896 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:111893896C>T uc001tsj.2 - 23 3843 c.3681G>A c.(3679-3681)ACG>ACA p.T1227T ATXN2_uc001tsh.2_Silent_p.T962T|ATXN2_uc001tsi.2_Silent_p.T920T|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Silent_p.T415T|ATXN2_uc001tsl.1_Silent_p.T228T NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 1227 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 AAGGATGGATCGTAAAGACAG 0.557 ACAD10 80724 broad.mit.edu 37 12 112140085 112140085 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:112140085C>T uc001tsq.2 + 3 507 c.307C>T c.(307-309)CGA>TGA p.R103* ACAD10_uc009zvw.2_Nonsense_Mutation_p.R103*|ACAD10_uc001tso.3_Nonsense_Mutation_p.R103*|ACAD10_uc001tsp.2_Nonsense_Mutation_p.R103*|ACAD10_uc009zvx.2_Nonsense_Mutation_p.R103* NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 103 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 GGGTTTTTTACGAGAATTTGG 0.393 C12orf51 283450 broad.mit.edu 37 12 112650367 112650367 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:112650367T>C uc009zwc.2 - 42 6305 c.6287A>G c.(6286-6288)TAC>TGC p.Y2096C C12orf51_uc001ttr.1_Missense_Mutation_p.Y271C NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CTGCCCGCAGTATGTGAAGTA 0.557 DTX1 1840 broad.mit.edu 37 12 113532908 113532908 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:113532908C>T uc001tuk.1 + 7 1784 c.1448C>T c.(1447-1449)CCG>CTG p.P483L NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 483 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 GGTACGCAGCCGCCTGGGAAG 0.647 TBX3 6926 broad.mit.edu 37 12 115120662 115120662 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:115120662T>C uc001tvt.1 - 1 1308 c.344A>G c.(343-345)CAG>CGG p.Q115R TBX3_uc001tvu.1_Missense_Mutation_p.Q115R|TBX3_uc010syw.1_Missense_Mutation_p.Q115R NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 115 T-box; first part. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CTTGTGAAACTGATCCCAAAG 0.567 NOS1 4842 broad.mit.edu 37 12 117685162 117685162 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:117685162C>A uc001twm.1 - 18 3500 c.2814G>T c.(2812-2814)AAG>AAT p.K938N NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 938 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCTTGAAGACCTTCTTGGCCC 0.512 RSRC2 65117 broad.mit.edu 37 12 123001921 123001921 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:123001921C>T uc001ucr.2 - 5 601 c.455G>A c.(454-456)CGG>CAG p.R152Q RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.R93Q|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.R104Q|RSRC2_uc001ucu.2_Missense_Mutation_p.R152Q NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 152 Ser-rich. ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) CGATTTCTTCCGCTCCCTACT 0.463 DNAH10 196385 broad.mit.edu 37 12 124258738 124258738 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:124258738T>G uc001uft.3 + 5 390 c.365T>G c.(364-366)ATT>AGT p.I122S NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 122 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCTATGGAAATTATGCCAGAA 0.393 DNAH10 196385 broad.mit.edu 37 12 124341746 124341746 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:124341746G>A uc001uft.3 + 36 6253 c.6228G>A c.(6226-6228)GCG>GCA p.A2076A NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2076 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCAACGATGCGGTAGAGCAGG 0.527 FZD10 11211 broad.mit.edu 37 12 130648883 130648883 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:130648883C>T uc001uii.2 + 1 1852 c.1396C>T c.(1396-1398)CGC>TGC p.R466C uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 466 Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CTTTTACGAACGCCTCAACAT 0.557 MPHOSPH8 54737 broad.mit.edu 37 13 20221160 20221160 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:20221160G>A uc001umh.2 + 3 956 c.947G>A c.(946-948)AGT>AAT p.S316N MPHOSPH8_uc001umf.1_Missense_Mutation_p.S316N|MPHOSPH8_uc001umg.2_Missense_Mutation_p.S316N|MPHOSPH8_uc001umi.2_Missense_Mutation_p.S13N NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 316 cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) CCCCTAGACAGTGCCATGAGT 0.517 XPO4 64328 broad.mit.edu 37 13 21396376 21396376 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:21396376C>T uc001unq.3 - 8 929 c.893G>A c.(892-894)TGC>TAC p.C298Y NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 298 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) CTGGGCAAGGCACTGCAGAGA 0.373 PARP4 143 broad.mit.edu 37 13 25077812 25077812 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:25077812C>T uc001upl.2 - 2 209 c.103G>A c.(103-105)GGA>AGA p.G35R PARP4_uc010tdc.1_Missense_Mutation_p.G35R NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 35 BRCT. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GAAAACTTTCCGCCATTTTCC 0.383 FAM123A 219287 broad.mit.edu 37 13 25745590 25745590 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:25745590G>A uc001uqb.2 - 1 268 c.168C>T c.(166-168)GCC>GCT p.A56A FAM123A_uc001uqa.2_Silent_p.A56A|FAM123A_uc001uqc.2_Silent_p.A56A NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 56 Gly-rich. ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ACGGCGGCTCGGCGGCCGGCG 0.597 MTUS2 23281 broad.mit.edu 37 13 29598991 29598991 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:29598991G>A uc001usl.3 + 1 244 c.186G>A c.(184-186)AAG>AAA p.K62K NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 52 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 ACGAGTCCAAGACATGTGACC 0.418 HSPH1 10808 broad.mit.edu 37 13 31719831 31719831 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:31719831T>C uc001utj.2 - 11 1851 c.1453A>G c.(1453-1455)AAC>GAC p.N485D HSPH1_uc001utk.2_Missense_Mutation_p.N485D|HSPH1_uc010aaw.2_Missense_Mutation_p.N444D|HSPH1_uc001utl.2_Missense_Mutation_p.N487D|HSPH1_uc010tds.1_Missense_Mutation_p.N409D NM_006644 NP_006635 Q92598 HS105_HUMAN heat shock 105kD 485 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding 0 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CCATGGGTGTTGACTCGCACT 0.418 PDS5B 23047 broad.mit.edu 37 13 33258137 33258137 + Nonsense_Mutation SNP A A T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:33258137A>T uc010abf.2 + 11 1338 c.1180A>T c.(1180-1182)AGA>TGA p.R394* PDS5B_uc001uuo.2_Nonsense_Mutation_p.R394*|PDS5B_uc010abg.2_RNA|PDS5B_uc010teb.1_Nonsense_Mutation_p.R96* NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 394 HEAT. R -> G (in Ref. 2; AAD22134). cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TAATTTTGTGAGAGAGAGAAC 0.269 PDS5B 23047 broad.mit.edu 37 13 33344698 33344698 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:33344698G>T uc010abf.2 + 32 4222 c.4064G>T c.(4063-4065)AGA>ATA p.R1355I PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 1355 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GCACAGCAGAGGTAAGCATGT 0.428 SPG20 23111 broad.mit.edu 37 13 36905589 36905589 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:36905589C>A uc001uvn.2 - 4 1225 c.955G>T c.(955-957)GAT>TAT p.D319Y SPG20_uc010ten.1_Missense_Mutation_p.D319Y|SPG20_uc001uvm.2_Missense_Mutation_p.D319Y|SPG20_uc001uvo.2_Missense_Mutation_p.D319Y|SPG20_uc001uvq.2_Missense_Mutation_p.D319Y|SPG20_uc001uvp.2_Missense_Mutation_p.D319Y NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin 319 cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) AGCTCTCTATCATCCTCTGGT 0.448 CCNA1 8900 broad.mit.edu 37 13 37012843 37012843 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:37012843C>T uc001uvr.3 + 5 1082 c.732C>T c.(730-732)CGC>CGT p.R244R CCNA1_uc010teo.1_Silent_p.R200R|CCNA1_uc010abq.2_Silent_p.R200R|CCNA1_uc010abp.2_Silent_p.R200R|CCNA1_uc001uvs.3_Silent_p.R243R|CCNA1_uc010abr.2_Intron NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 244 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) AAGGCATGCGCACGATTCTGG 0.473 FAM48A 55578 broad.mit.edu 37 13 37618213 37618213 + Splice_Site SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:37618213A>G uc001uwg.2 - 7 644 c.396_splice c.e7+1 p.Q132_splice FAM48A_uc010abt.2_Splice_Site_p.Q133_splice|FAM48A_uc001uwh.2_Splice_Site_p.Q133_splice|FAM48A_uc001uwi.2_Splice_Site_p.Q132_splice|FAM48A_uc001uwj.2_Splice_Site_p.Q133_splice|FAM48A_uc001uwk.2_Splice_Site_p.Q132_splice|FAM48A_uc010tes.1_Splice_Site_p.Q120_splice|FAM48A_uc001uwl.1_Splice_Site_p.Q132_splice NM_001014286 NP_001014308 Q8NEM7 FA48A_HUMAN family with sequence similarity 48, member A autophagy|gastrulation SAGA-type complex protein binding 0 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) AAAATTTTGTACCTGAGATTT 0.249 POSTN 10631 broad.mit.edu 37 13 38158194 38158194 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:38158194C>T uc001uwo.3 - 9 1273 c.1155G>A c.(1153-1155)ACG>ACA p.T385T POSTN_uc001uwp.3_Silent_p.T385T|POSTN_uc001uwr.2_Silent_p.T385T|POSTN_uc001uwq.2_Silent_p.T385T|POSTN_uc010teu.1_Silent_p.T385T|POSTN_uc010tev.1_Silent_p.T385T|POSTN_uc010tew.1_Silent_p.T385T|POSTN_uc010tex.1_Silent_p.T300T NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 385 FAS1 3. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CCACAAGATCCGTGAAGGTGG 0.438 FREM2 341640 broad.mit.edu 37 13 39263555 39263555 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:39263555C>T uc001uwv.2 + 1 2383 c.2074C>T c.(2074-2076)CGT>TGT p.R692C NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 692 CSPG 4.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GTTTGTGATTCGTATCCATCC 0.562 WBP4 11193 broad.mit.edu 37 13 41650292 41650292 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:41650292G>A uc001uxt.2 + 8 788 c.675G>A c.(673-675)TCG>TCA p.S225S WBP4_uc010tfd.1_Silent_p.S204S NM_007187 NP_009118 O75554 WBP4_HUMAN WW domain-containing binding protein 4 225 nuclear mRNA cis splicing, via spliceosome nuclear speck|spliceosomal complex nucleic acid binding|proline-rich region binding|zinc ion binding breast(2)|kidney(1) 3 Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07) CATCAGATTCGCATAGTGATT 0.388 KBTBD6 89890 broad.mit.edu 37 13 41705321 41705321 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:41705321G>A uc001uxu.1 - 1 1616 c.1327C>T c.(1327-1329)CGA>TGA p.R443* KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Nonsense_Mutation_p.R377*|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 443 Kelch 2. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ATAGGGTCTCGCCCCCCCAAA 0.473 KIAA0564 23078 broad.mit.edu 37 13 42303703 42303703 + Silent SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:42303703T>A uc001uyj.2 - 23 2683 c.2613A>T c.(2611-2613)CTA>CTT p.L871L KIAA0564_uc001uyk.2_Silent_p.L871L NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 871 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TTCCATCTGCTAGAATCATTT 0.333 DGKH 160851 broad.mit.edu 37 13 42793377 42793377 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:42793377G>A uc001uyl.1 + 27 3246 c.3225G>A c.(3223-3225)TCG>TCA p.S1075S DGKH_uc010tfh.1_Silent_p.S1075S|DGKH_uc001uym.1_Silent_p.S1075S|DGKH_uc010tfi.1_Silent_p.S830S|DGKH_uc010tfj.1_Silent_p.S930S|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.S930S|DGKH_uc001uyp.2_RNA NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 1075 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) AGCTGGAATCGCCACATGAAG 0.408 PIBF1 10464 broad.mit.edu 37 13 73369613 73369613 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:73369613G>A uc001vjc.2 + 4 775 c.470G>A c.(469-471)CGT>CAT p.R157H PIBF1_uc001vja.1_Missense_Mutation_p.R157H|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.R157H|PIBF1_uc010aep.2_Intron NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 157 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) CGAAACCTGCGTGACTTTGAG 0.338 GPC5 2262 broad.mit.edu 37 13 92345711 92345711 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:92345711G>A uc010tif.1 + 3 962 c.596G>A c.(595-597)CGG>CAG p.R199Q NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 199 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ATGGCTCGCCGGGATGTGAGT 0.512 IPO5 3843 broad.mit.edu 37 13 98642694 98642694 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:98642694C>T uc001vnf.1 + 6 637 c.572C>T c.(571-573)ACG>ATG p.T191M IPO5_uc001vne.2_Missense_Mutation_p.T209M|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.T131M NM_002271 NP_002262 O00410 IPO5_HUMAN importin 5 191 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding ovary(1)|lung(1)|skin(1) 3 TAGATCAGGACGTTATCTGCT 0.343 TPP2 7174 broad.mit.edu 37 13 103281921 103281921 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:103281921C>T uc001vpi.3 + 9 1209 c.1106C>T c.(1105-1107)ACA>ATA p.T369I NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 369 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGCCTGTCTACAGTTGGTTGT 0.328 DAOA 267012 broad.mit.edu 37 13 106142341 106142341 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:106142341C>T uc001vqb.2 + 4 647 c.373C>T c.(373-375)CCT>TCT p.P125S DAOA_uc010tjf.1_Missense_Mutation_p.P54S|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Missense_Mutation_p.P97S|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA NM_172370 NP_758958 P59103 DAOA_HUMAN D-amino acid oxidase activator isoform 1 125 Golgi apparatus 0 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) ccgcaggcagcctctagaacg 0 ATP11A 23250 broad.mit.edu 37 13 113478731 113478731 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:113478731C>T uc001vsi.3 + 10 952 c.864C>T c.(862-864)GCC>GCT p.A288A ATP11A_uc001vsj.3_Silent_p.A288A|ATP11A_uc001vsm.1_Silent_p.A164A NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 288 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) AGCGATCTGCCGTGGAAAAGT 0.448 TFDP1 7027 broad.mit.edu 37 13 114265347 114265347 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:114265347T>A uc001vtw.2 + 3 261 c.49T>A c.(49-51)TTC>ATC p.F17I TFDP1_uc010tkd.1_5'UTR|TFDP1_uc010tke.1_5'UTR|TFDP1_uc001vty.3_Missense_Mutation_p.F17I|TFDP1_uc010agx.2_Missense_Mutation_p.F17I NM_007111 NP_009042 Q14186 TFDP1_HUMAN transcription factor Dp-1 17 cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding lung(4)|ovary(2)|skin(1) 7 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) ACTCAAGGTCTTCATAGACCA 0.448 TSP Lung(29;0.18) OR4Q3 441669 broad.mit.edu 37 14 20216515 20216515 + Missense_Mutation SNP C C G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:20216515C>G uc010tkt.1 + 1 929 c.929C>G c.(928-930)CCA>CGA p.P310R NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTGGCATTCCATTGCCTTGT 0.393 TEP1 7011 broad.mit.edu 37 14 20871938 20871938 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:20871938A>G uc001vxe.2 - 6 1178 c.1138T>C c.(1138-1140)TAC>CAC p.Y380H TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Intron NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 380 TROVE. 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) CGAGGGTTGTACTTAGCCAGC 0.622 AP1G2 8906 broad.mit.edu 37 14 24033782 24033782 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:24033782C>T uc001wkl.2 - 9 1247 c.910G>A c.(910-912)GCT>ACT p.A304T AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Missense_Mutation_p.A232T|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA|AP1G2_uc010tnp.1_Missense_Mutation_p.A304T NM_003917 NP_003908 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 304 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity ovary(1) 1 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CGTAGGCCAGCTGCAGAGCGG 0.592 TM9SF1 10548 broad.mit.edu 37 14 24664214 24664214 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:24664214T>C uc001wnb.1 - 2 360 c.12A>G c.(10-12)GTA>GTG p.V4V TM9SF1_uc010toa.1_Intron|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Silent_p.V239V|TM9SF1_uc001wnc.2_Silent_p.V4V|TM9SF1_uc001wnd.2_5'Flank NM_006405 NP_006396 O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 isoform a 4 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0183) GAGGGTTCCCTACGACTGTCA 0.557 NOVA1 4857 broad.mit.edu 37 14 27064621 27064621 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:27064621T>C uc001wpy.2 - 2 593 c.275A>G c.(274-276)TAC>TGC p.Y92C NOVA1_uc001wpz.2_Missense_Mutation_p.Y92C|NOVA1_uc001wqa.2_5'UTR|NOVA1_uc001wqb.2_Missense_Mutation_p.Y92C NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 95 KH 1. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) CCTACCTGGGTAAAAATCTTT 0.408 ARHGAP5 394 broad.mit.edu 37 14 32561281 32561281 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:32561281C>T uc001wrl.2 + 2 1645 c.1406C>T c.(1405-1407)GCT>GTT p.A469V ARHGAP5_uc001wrm.2_Missense_Mutation_p.A469V|ARHGAP5_uc001wrn.2_Missense_Mutation_p.A469V|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 469 FF 3. cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATCACTGAGGCTGATAGCAAA 0.373 ARHGAP5 394 broad.mit.edu 37 14 32623920 32623920 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:32623920A>G uc001wrl.2 + 7 4514 c.4275A>G c.(4273-4275)CGA>CGG p.R1425R ARHGAP5_uc001wrm.2_Silent_p.R1424R|ARHGAP5_uc001wrn.2_Silent_p.R1425R|ARHGAP5_uc001wro.2_Silent_p.R164R|ARHGAP5_uc001wrp.2_Silent_p.R160R NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 1425 Rho-GAP. cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTGAAAATCGAGAGTTTCTGT 0.353 PAX9 5083 broad.mit.edu 37 14 37145642 37145642 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:37145642G>A uc001wty.3 + 5 1728 c.1011G>A c.(1009-1011)ACG>ACA p.T337T PAX9_uc010amq.2_RNA NM_006194 NP_006185 P55771 PAX9_HUMAN paired box 9 337 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) ATTCTGTCACGGCTTCCGCGC 0.592 PNN 5411 broad.mit.edu 37 14 39650999 39650999 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:39650999C>T uc001wuw.3 + 9 2183 c.2086C>T c.(2086-2088)CGA>TGA p.R696* NM_002687 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 696 Ser-rich.|Arg-rich.|Necessary for interaction with PPIG. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity ovary(1) 1 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) AGAGAGTAGTCGATCAGGCAA 0.403 FAM179B 23116 broad.mit.edu 37 14 45432443 45432443 + Silent SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:45432443T>G uc001wvv.2 + 1 1028 c.819T>G c.(817-819)TCT>TCG p.S273S FAM179B_uc001wvw.2_Silent_p.S273S|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.S273S|FAM179B_uc001wvu.2_Silent_p.S273S NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 273 binding skin(2)|upper_aerodigestive_tract(1) 3 AAGAAGAATCTGAGACAGCTT 0.488 FKBP3 2287 broad.mit.edu 37 14 45599948 45599948 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:45599948T>G uc010tqf.1 - 2 237 c.164A>C c.(163-165)AAC>ACC p.N55T NM_002013 NP_002004 Q00688 FKBP3_HUMAN FK506 binding protein 3, 25kDa 55 protein folding membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity 0 GTGGTCCTTGTTAGCTGTCTT 0.338 NID2 22795 broad.mit.edu 37 14 52520915 52520915 + Missense_Mutation SNP G G A rs147980330 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:52520915G>A uc001wzo.2 - 4 1126 c.892C>T c.(892-894)CGT>TGT p.R298C NID2_uc010tqs.1_Missense_Mutation_p.R298C|NID2_uc010tqt.1_Missense_Mutation_p.R298C|NID2_uc001wzp.2_Missense_Mutation_p.R298C NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 298 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CTGAAGGAACGTCCCAGGGGA 0.517 PELI2 57161 broad.mit.edu 37 14 56757145 56757145 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:56757145A>G uc001xch.2 + 5 953 c.667A>G c.(667-669)ACC>GCC p.T223A NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 223 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 CTTGCGAGAAACCAGGTCGGC 0.562 GPR135 64582 broad.mit.edu 37 14 59930803 59930803 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:59930803G>A uc010apj.2 - 1 1257 c.1142C>T c.(1141-1143)GCC>GTC p.A381V GPR135_uc001xed.2_RNA NM_022571 NP_072093 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 381 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.134) AGGGTTGATGGCCCCATTGGC 0.652 RTN1 6252 broad.mit.edu 37 14 60074086 60074086 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:60074086G>A uc001xen.1 - 4 2099 c.1890C>T c.(1888-1890)GCC>GCT p.A630A RTN1_uc001xem.1_Silent_p.A210A|RTN1_uc001xek.1_Silent_p.A62A|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.A47A NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 630 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CTGAGAGTGCGGCCAGGGCCA 0.562 SIX6 4990 broad.mit.edu 37 14 60976498 60976498 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:60976498G>A uc001xfa.3 + 1 561 c.382G>A c.(382-384)GGC>AGC p.G128S NM_007374 NP_031400 O95475 SIX6_HUMAN SIX homeobox 6 128 Homeobox. organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.088) CATTTGGGACGGCGAACAGAA 0.582 KCNH5 27133 broad.mit.edu 37 14 63417018 63417018 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:63417018C>T uc001xfx.2 - 7 1253 c.1202G>A c.(1201-1203)CGC>CAC p.R401H KCNH5_uc001xfy.2_Missense_Mutation_p.R401H|KCNH5_uc001xfz.1_Missense_Mutation_p.R343H|KCNH5_uc001xga.2_Missense_Mutation_p.R343H NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 401 Extracellular (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GGTATTGTAGCGATATGGAGT 0.468 SYNE2 23224 broad.mit.edu 37 14 64518919 64518919 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:64518919C>T uc001xgm.2 + 48 8518 c.8288C>T c.(8287-8289)TCA>TTA p.S2763L SYNE2_uc001xgl.2_Missense_Mutation_p.S2763L NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2763 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GACATTCTTTCACAGATCAGA 0.438 PLEKHG3 26030 broad.mit.edu 37 14 65208660 65208660 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:65208660C>T uc001xho.1 + 16 2694 c.2425C>T c.(2425-2427)CGC>TGC p.R809C PLEKHG3_uc001xhn.1_Missense_Mutation_p.R753C|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R930C|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R351C|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R314C NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 809 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TGCTGAGTTCCGCCCATCTTC 0.617 TMEM90A 646658 broad.mit.edu 37 14 74874351 74874351 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:74874351T>C uc001xpx.2 - 4 852 c.604A>G c.(604-606)ACC>GCC p.T202A NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN transmembrane protein 90A 202 response to biotic stimulus Golgi apparatus|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(234;0.00159) CGGCGGGAGGTGGTGCTGGCC 0.632 C14orf145 145508 broad.mit.edu 37 14 81251580 81251580 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:81251580C>T uc001xux.2 - 14 2041 c.1870G>A c.(1870-1872)GCC>ACC p.A624T C14orf145_uc010asz.1_RNA NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 624 Potential. centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) TTGTCCTGGGCCTGGCTCTTC 0.463 ZC3H14 79882 broad.mit.edu 37 14 89073629 89073629 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:89073629T>A uc001xww.2 + 13 2015 c.1790T>A c.(1789-1791)CTT>CAT p.L597H ZC3H14_uc010twd.1_Missense_Mutation_p.L597H|ZC3H14_uc010twe.1_Missense_Mutation_p.L592H|ZC3H14_uc001xwx.2_Missense_Mutation_p.L441H|ZC3H14_uc010twf.1_Missense_Mutation_p.L311H|ZC3H14_uc001xwy.2_Missense_Mutation_p.L432H|ZC3H14_uc010twg.1_Missense_Mutation_p.L286H|ZC3H14_uc001xxa.2_Missense_Mutation_p.L142H|ZC3H14_uc001xxc.2_Missense_Mutation_p.L141H|ZC3H14_uc001xxb.2_Missense_Mutation_p.L168H NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 597 C3H1-type 1. cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 CCAGAAAAACTTTTGGAGCGC 0.453 CCDC88C 440193 broad.mit.edu 37 14 91773527 91773527 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:91773527C>T uc010aty.2 - 18 3149 c.3050G>A c.(3049-3051)GGG>GAG p.G1017E NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 1017 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) CAAGTGCTGCCCCTCTCCCTG 0.607 SERPINA9 327657 broad.mit.edu 37 14 94936051 94936051 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:94936051G>A uc001ydf.2 - 2 342 c.181C>T c.(181-183)CAG>TAG p.Q61* SERPINA9_uc001yde.2_Nonsense_Mutation_p.Q61*|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Nonsense_Mutation_p.Q61*|SERPINA9_uc001ydi.1_Intron NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 43 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GAATACACCTGTGAGGCAGGG 0.577 SERPINA12 145264 broad.mit.edu 37 14 94964289 94964289 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:94964289T>G uc001ydj.2 - 3 1242 c.446A>C c.(445-447)AAG>ACG p.K149T NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 149 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) TTCCAAAAACTTACGCTGTGG 0.458 SERPINA3 12 broad.mit.edu 37 14 95090098 95090098 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:95090098G>A uc001ydp.2 + 5 1298 c.1219G>A c.(1219-1221)GAC>AAC p.D407N SERPINA3_uc001ydo.3_Missense_Mutation_p.D432N|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.D407N|SERPINA3_uc001yds.2_Missense_Mutation_p.D407N|SERPINA3_uc010avg.2_Missense_Mutation_p.D407N NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 407 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity p.D407N(1) ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) TGTCCCTACAGACACCCAGAA 0.493 DICER1 23405 broad.mit.edu 37 14 95569719 95569719 + Silent SNP C C T rs143454689 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:95569719C>T uc001ydw.2 - 22 4196 c.4014G>A c.(4012-4014)GCG>GCA p.A1338A DICER1_uc010avh.1_Silent_p.A236A|DICER1_uc001ydv.2_Silent_p.A1328A|DICER1_uc001ydx.2_Silent_p.A1338A|DICER1_uc001ydy.1_Silent_p.A190A NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1338 RNase III 1. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GGCCCTCATGCGCATCAGGGT 0.413 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ AHNAK2 113146 broad.mit.edu 37 14 105412736 105412736 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:105412736G>A uc010axc.1 - 7 9172 c.9052C>T c.(9052-9054)CAG>TAG p.Q3018* AHNAK2_uc001ypx.2_Nonsense_Mutation_p.Q2918* NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3018 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGGTCCCCCTGCATGGAGGGG 0.642 BRF1 2972 broad.mit.edu 37 14 105677548 105677548 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:105677548T>C uc001yqp.2 - 17 2270 c.1907A>G c.(1906-1908)TAC>TGC p.Y636C BRF1_uc010tyo.1_Missense_Mutation_p.Y521C|BRF1_uc010typ.1_Missense_Mutation_p.Y543C|BRF1_uc001yqk.2_Missense_Mutation_p.Y162C|BRF1_uc001yql.2_Missense_Mutation_p.Y432C|BRF1_uc001yqo.2_Missense_Mutation_p.Y398C|BRF1_uc010axg.1_Missense_Mutation_p.Y609C|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_3'UTR NM_001519 NP_001510 Q92994 TF3B_HUMAN transcription initiation factor IIIB isoform 1 636 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GTCGGCGTGGTATGACACGGG 0.687 GABRG3 2567 broad.mit.edu 37 15 27772702 27772702 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:27772702C>T uc001zbg.1 + 8 1155 c.989C>T c.(988-990)GCG>GTG p.A330V NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 330 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) GTCTTCGCCGCGCTGATGGAG 0.547 HERC2 8924 broad.mit.edu 37 15 28422236 28422236 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:28422236T>C uc001zbj.2 - 61 9398 c.9292A>G c.(9292-9294)ACC>GCC p.T3098A NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3098 RCC1 8. 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) ATACGCTTGGTTTTCAGGGCC 0.542 RYR3 6263 broad.mit.edu 37 15 34130674 34130674 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:34130674C>A uc001zhi.2 + 89 12563 c.12493C>A c.(12493-12495)CTC>ATC p.L4165I RYR3_uc010bar.2_Missense_Mutation_p.L4160I NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4165 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCTGAAGAACCTCAGGAAGCA 0.517 PGBD4 161779 broad.mit.edu 37 15 34396075 34396075 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:34396075A>G uc001zho.2 + 1 1802 c.1343A>G c.(1342-1344)CAC>CGC p.H448R C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank NM_152595 NP_689808 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 448 0 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) CGCAAAAGACACAAGGTTTGG 0.423 C15orf55 256646 broad.mit.edu 37 15 34646818 34646818 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:34646818C>T uc001zif.2 + 5 1318 c.1163C>T c.(1162-1164)TCA>TTA p.S388L C15orf55_uc010ucc.1_Missense_Mutation_p.S416L|C15orf55_uc010ucd.1_Missense_Mutation_p.S406L NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 388 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) ACTGGGGAGTCAGATGGAAAA 0.537 T BRD3|BRD4 lethal midline carcinoma LPCAT4 254531 broad.mit.edu 37 15 34654982 34654982 + Splice_Site SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:34654982C>T uc001zig.2 - 8 895 c.801_splice c.e8+1 p.E267_splice NM_153613 NP_705841 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding 0 GGGAGCCATACCTCCACATCC 0.512 GOLGA8A 23015 broad.mit.edu 37 15 34673666 34673666 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:34673666G>A uc001zii.2 - 16 1867 c.1758C>T c.(1756-1758)AGC>AGT p.S586S GOLGA8A_uc001zih.2_Silent_p.S442S|uc001zil.2_5'Flank NM_181077 NP_851422 A7E2F4 GOG8A_HUMAN golgi autoantigen, golgin subfamily a, 8A 614 Golgi-targeting domain (By similarity). Golgi cisterna membrane 0 all_lung(180;2.78e-08) all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156) CACAGCAGTTGCTGCCCAAGC 0.532 AQR 9716 broad.mit.edu 37 15 35163101 35163101 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:35163101A>G uc001ziv.2 - 31 3801 c.3620T>C c.(3619-3621)GTA>GCA p.V1207A NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 1207 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AAGTGCTACTACATATTCTGC 0.333 AQR 9716 broad.mit.edu 37 15 35202476 35202476 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:35202476G>A uc001ziv.2 - 17 1704 c.1523C>T c.(1522-1524)GCG>GTG p.A508V NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 508 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GGCCATTCGCGCCCAACCACC 0.448 EIF2AK4 440275 broad.mit.edu 37 15 40254062 40254062 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:40254062G>T uc001zkm.1 + 7 871 c.821G>T c.(820-822)AGT>ATT p.S274I EIF2AK4_uc001zkl.2_Missense_Mutation_p.S274I|EIF2AK4_uc010bbj.1_Missense_Mutation_p.S3I NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 274 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) AATATGGGGAGTCCTGATCAG 0.338 INO80 54617 broad.mit.edu 37 15 41379814 41379814 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:41379814G>A uc001zni.2 - 6 817 c.604C>T c.(604-606)CGG>TGG p.R202W INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 202 Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 AGTAGGTGCCGTTGTTGCTCA 0.428 FRMD5 84978 broad.mit.edu 37 15 44175946 44175946 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:44175946C>T uc001ztl.2 - 13 1267 c.1090G>A c.(1090-1092)GTC>ATC p.V364I FRMD5_uc001ztj.1_Missense_Mutation_p.V37I|FRMD5_uc001ztk.1_Missense_Mutation_p.V270I|FRMD5_uc010uef.1_Missense_Mutation_p.V37I|FRMD5_uc001ztm.2_Missense_Mutation_p.V37I|FRMD5_uc001ztn.2_Missense_Mutation_p.V130I NM_032892 NP_116281 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 isoform 2 364 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) GTCCTGGGGACGCTGCTCAGC 0.537 CYP19A1 1588 broad.mit.edu 37 15 51514600 51514600 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:51514600G>A uc001zyz.3 - 6 825 c.574C>T c.(574-576)CGT>TGT p.R192C CYP19A1_uc001zza.3_Missense_Mutation_p.R192C|CYP19A1_uc001zzb.2_Missense_Mutation_p.R192C|CYP19A1_uc001zzd.2_Missense_Mutation_p.R192C|CYP19A1_uc010bey.1_Missense_Mutation_p.R192C NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 192 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(3) 3 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) ATGACACGACGCAGAAGGGTC 0.493 KIAA1370 56204 broad.mit.edu 37 15 52877031 52877031 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:52877031T>C uc002acg.3 - 12 3141 c.2988A>G c.(2986-2988)GTA>GTG p.V996V KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Silent_p.V908V|KIAA1370_uc002acf.3_Silent_p.V26V|KIAA1370_uc010ugf.1_Silent_p.V1003V NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 996 0 all cancers(107;0.0803) GTTTAACAGGTACAGAAAAAG 0.373 CCPG1 9236 broad.mit.edu 37 15 55652559 55652559 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:55652559C>T uc002acv.1 - 8 1577 c.1412G>A c.(1411-1413)GGC>GAC p.G471D CCPG1_uc002acy.2_Missense_Mutation_p.G471D|CCPG1_uc002acu.1_Missense_Mutation_p.G327D|CCPG1_uc002acw.1_Missense_Mutation_p.G196D|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.G471D|CCPG1_uc002acz.1_Missense_Mutation_p.G471D NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 471 Lumenal (Potential). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) GCTTCCTCTGCCCCCTTTCTT 0.393 PRTG 283659 broad.mit.edu 37 15 55912260 55912260 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:55912260C>T uc002adg.2 - 20 3451 c.3403G>A c.(3403-3405)GAT>AAT p.D1135N NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 1135 multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TGTATCTCATCGTTGGACTCA 0.483 TLN2 83660 broad.mit.edu 37 15 62950012 62950012 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:62950012G>A uc002alb.3 + 6 703 c.703G>A c.(703-705)GAG>AAG p.E235K NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 235 FERM. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 TGTCTCCTTCGAGAAAGCTTG 0.458 FEM1B 10116 broad.mit.edu 37 15 68582325 68582325 + Missense_Mutation SNP G G A rs142755987 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:68582325G>A uc002arg.2 + 2 1244 c.629G>A c.(628-630)CGT>CAT p.R210H FEM1B_uc002arh.2_Missense_Mutation_p.R130H NM_015322 NP_056137 Q9UK73 FEM1B_HUMAN fem-1 homolog b 210 ANK 5. apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity 0 ATAAAATGGCGTGCTGCTATA 0.473 GRAMD2 196996 broad.mit.edu 37 15 72456008 72456008 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:72456008A>G uc002atq.2 - 9 715 c.691T>C c.(691-693)TCA>CCA p.S231P GRAMD2_uc010bis.2_Missense_Mutation_p.S231P|GRAMD2_uc010ukh.1_Missense_Mutation_p.S25P NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 231 integral to membrane 0 TCCACGGATGATGGAGGGATA 0.537 ISLR2 57611 broad.mit.edu 37 15 74425657 74425657 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:74425657G>A uc002axd.2 + 4 1331 c.562G>A c.(562-564)GGC>AGC p.G188S ISLR2_uc002axe.2_Missense_Mutation_p.G188S|ISLR2_uc010bjg.2_Missense_Mutation_p.G188S|ISLR2_uc010bjf.2_Missense_Mutation_p.G188S NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 188 Extracellular (Potential).|LRRCT. positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CTGCGGCTGCGGCCTTGTGTG 0.667 CYP1A1 1543 broad.mit.edu 37 15 75012940 75012940 + Missense_Mutation SNP G G A rs56240201 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:75012940G>A uc002ayp.3 - 7 1551 c.1429C>T c.(1429-1431)CGG>TGG p.R477W CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.R213W|CYP1A1_uc010bjx.2_Missense_Mutation_p.R213W|CYP1A1_uc002ayq.3_Missense_Mutation_p.R477W|CYP1A1_uc010bjy.2_Missense_Mutation_p.R448W NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 477 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity p.R477W(1) ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) AATTCCACCCGTTGCAGCAGG 0.542 Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia PTPN9 5780 broad.mit.edu 37 15 75772249 75772249 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:75772249A>G uc002bal.2 - 9 1577 c.1069T>C c.(1069-1071)TAC>CAC p.Y357H NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 357 Tyrosine-protein phosphatase. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 GCATTGATGTAATCTGTCTAA 0.408 LINGO1 84894 broad.mit.edu 37 15 77906539 77906539 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:77906539G>A uc002bct.1 - 2 1762 c.1710C>T c.(1708-1710)GGC>GGT p.G570G LINGO1_uc002bcu.1_Silent_p.G564G NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 570 Helical; (Potential). negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 AGAGGACGACGCCCAGGAAAG 0.597 CHRNB4 1143 broad.mit.edu 37 15 78921959 78921959 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:78921959G>A uc002bed.1 - 5 800 c.688C>T c.(688-690)CGC>TGC p.R230C CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.R48C NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 230 Extracellular (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 AGAGGCTTGCGCTTGATGATG 0.572 TMC3 342125 broad.mit.edu 37 15 81636296 81636296 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:81636296A>G uc002bgo.1 - 14 1609 c.1609T>C c.(1609-1611)TTA>CTA p.L537L TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Silent_p.L537L NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 537 Extracellular (Potential). integral to membrane ovary(1)|liver(1) 2 TAGTCACTTAAGTACCGCACG 0.448 EFTUD1 79631 broad.mit.edu 37 15 82444608 82444608 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:82444608A>G uc002bgt.1 - 18 2356 c.2187T>C c.(2185-2187)CCT>CCC p.P729P EFTUD1_uc002bgs.1_Silent_p.P100P|EFTUD1_uc002bgu.1_Silent_p.P678P NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 729 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 GGATTCCTTCAGGGATTTTGC 0.433 ZSCAN2 54993 broad.mit.edu 37 15 85163909 85163909 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:85163909G>A uc002bkr.2 + 3 709 c.483G>A c.(481-483)TCG>TCA p.S161S ZSCAN2_uc010bmz.1_Silent_p.S159S|ZSCAN2_uc010bna.2_Silent_p.S11S|ZSCAN2_uc010uox.1_Silent_p.S160S|ZSCAN2_uc010uoy.1_Silent_p.S160S|ZSCAN2_uc010uoz.1_Silent_p.S160S NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN zinc finger protein 29 isoform 1 161 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) AGATATTCTCGGAAATGCCTG 0.448 SLC28A1 9154 broad.mit.edu 37 15 85487996 85487996 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:85487996A>G uc002blg.2 + 18 1974 c.1772A>G c.(1771-1773)TAC>TGC p.Y591C SLC28A1_uc010bnb.2_Missense_Mutation_p.Y591C|SLC28A1_uc010upe.1_Missense_Mutation_p.Y425C|SLC28A1_uc010upf.1_Missense_Mutation_p.Y591C|SLC28A1_uc010upg.1_Intron NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 591 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGGATCCTCTACATGCCCAGG 0.602 NTRK3 4916 broad.mit.edu 37 15 88679207 88679207 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:88679207T>C uc002bme.1 - 8 992 c.830A>G c.(829-831)GAC>GGC p.D277G NTRK3_uc002bmh.2_Missense_Mutation_p.D277G|NTRK3_uc002bmf.1_Missense_Mutation_p.D277G|NTRK3_uc010upl.1_Missense_Mutation_p.D179G|NTRK3_uc010bnh.1_Missense_Mutation_p.D277G|NTRK3_uc002bmg.2_Missense_Mutation_p.D277G NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 277 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) GAAGCCATTGTCCTCACTCGT 0.478 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) WDR93 56964 broad.mit.edu 37 15 90286554 90286554 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:90286554G>A uc002boj.2 + 17 2094 c.1993G>A c.(1993-1995)GAG>AAG p.E665K WDR93_uc010bnr.2_Missense_Mutation_p.E637K|WDR93_uc010upz.1_Missense_Mutation_p.E382K NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 665 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) CCCAGAGAAGGAGGAGGAGCA 0.587 ASB7 140460 broad.mit.edu 37 15 101188577 101188577 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:101188577T>C uc002bwk.2 + 6 1636 c.867T>C c.(865-867)TGT>TGC p.C289C NM_198243 NP_937886 Q9H672 ASB7_HUMAN ankyrin repeat and SOCS box-containing protein 7 289 SOCS box. intracellular signal transduction skin(1) 1 Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) TTCGACAATGTATAGGCCTTC 0.358 RHBDF1 64285 broad.mit.edu 37 16 108543 108543 + Silent SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:108543G>T uc002cfl.3 - 21 2512 c.2364C>A c.(2362-2364)CCC>CCA p.P788P NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 788 Helical; (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) AGCTGATGTAGGGCAAGAAGG 0.557 NHLRC4 283948 broad.mit.edu 37 16 618400 618400 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:618400G>A uc002chl.2 + 2 949 c.353G>A c.(352-354)GGC>GAC p.G118D PIGQ_uc010bqw.2_Intron|PIGQ_uc002chm.2_5'Flank|PIGQ_uc002chn.2_5'Flank|PIGQ_uc002cho.2_5'Flank NM_176677 NP_788850 P0CG21 NHLC4_HUMAN hypothetical protein LOC283948 118 NHL 2. 0 GTGTACCAGGGCCTCAAGGAG 0.662 WDR24 84219 broad.mit.edu 37 16 739536 739536 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:739536G>A uc002ciz.1 - 1 865 c.105C>T c.(103-105)TGC>TGT p.C35C NM_032259 NP_115635 Q96S15 WDR24_HUMAN WD repeat domain 24 97 ovary(1)|central_nervous_system(1) 2 Hepatocellular(780;0.0218) CTGCGTCGCGGCACACACTGA 0.617 MAPK8IP3 23162 broad.mit.edu 37 16 1817232 1817232 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:1817232C>T uc002cmk.2 + 26 3288 c.3168C>T c.(3166-3168)TAC>TAT p.Y1056Y MAPK8IP3_uc002cml.2_Silent_p.Y1050Y|MAPK8IP3_uc010uvl.1_Silent_p.Y1057Y NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 1056 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 CTGTTGTGTACGACCGCGTGT 0.627 SPSB3 90864 broad.mit.edu 37 16 1827807 1827807 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:1827807C>T uc002cmr.2 - 5 695 c.662G>A c.(661-663)GGC>GAC p.G221D SPSB3_uc002cms.2_Missense_Mutation_p.G93D|SPSB3_uc002cmt.2_Missense_Mutation_p.G93D|SPSB3_uc002cmu.2_Missense_Mutation_p.G221D|SPSB3_uc002cmv.2_Missense_Mutation_p.G93D NM_080861 NP_543137 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box 221 B30.2/SPRY. intracellular signal transduction 0 CAGGTGCACGCCAATGATGGA 0.617 NLRC3 197358 broad.mit.edu 37 16 3591887 3591887 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:3591887C>T uc010btn.2 - 21 3547 c.3136G>A c.(3136-3138)GGG>AGG p.G1046R NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 1046 LRR 16. I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 ATCCTGGCCCCGGAGTCCCCA 0.522 BTBD12 84464 broad.mit.edu 37 16 3656500 3656500 + Silent SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:3656500A>C uc002cvp.2 - 3 1362 c.735T>G c.(733-735)CCT>CCG p.P245P BTBD12_uc002cvq.1_Silent_p.P245P NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 245 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TCTCCTCTTGAGGATCCTTTG 0.512 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia CREBBP 1387 broad.mit.edu 37 16 3790455 3790455 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:3790455G>A uc002cvv.2 - 24 4282 c.4078C>T c.(4078-4080)CGA>TGA p.R1360* CREBBP_uc002cvw.2_Nonsense_Mutation_p.R1322* NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1360 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.R1360*(1) haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCCACCACTCGGACAAAAACC 0.582 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome TXNDC11 51061 broad.mit.edu 37 16 11785695 11785695 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:11785695C>T uc010buu.1 - 9 1494 c.1432G>A c.(1432-1434)GGG>AGG p.G478R TXNDC11_uc002dbg.1_Missense_Mutation_p.G451R NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 478 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 TTCATGCCCCCGGAGGTCTGG 0.562 MKL2 57496 broad.mit.edu 37 16 14340951 14340951 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:14340951C>T uc010uza.1 + 12 1989 c.1834C>T c.(1834-1836)CGG>TGG p.R612W MKL2_uc002dcg.2_Missense_Mutation_p.R612W|MKL2_uc002dcj.2_5'Flank NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN megakaryoblastic leukemia 2 protein 601 Potential. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity ovary(3)|kidney(1)|pancreas(1) 5 GCAGCAGCAGCGGCCCCTGGA 0.547 PLA2G10 8399 broad.mit.edu 37 16 14766560 14766560 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:14766560C>A uc002dcq.2 - 4 842 c.402G>T c.(400-402)CAG>CAT p.Q134H NM_003561 NP_003552 O15496 PA2GX_HUMAN phospholipase A2, group X precursor 134 arachidonic acid metabolic process|axon guidance|cholesterol homeostasis|lipid catabolic process|lysophospholipid transport|negative regulation of cholesterol efflux|negative regulation of sequence-specific DNA binding transcription factor activity|phospholipid metabolic process|positive regulation of arachidonic acid secretion|positive regulation of cellular protein metabolic process|positive regulation of lipid storage|positive regulation of prostaglandin secretion|regulation of macrophage activation extracellular region calcium ion binding|phospholipase A2 activity 0 TAGCAATCTCCTGGTCACACT 0.507 NOMO1 23420 broad.mit.edu 37 16 14958558 14958558 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:14958558A>G uc002dcv.2 + 13 1578 c.1512A>G c.(1510-1512)TCA>TCG p.S504S NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 504 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 TCTTGGCATCAGTTTCTGGGA 0.458 KIAA0430 9665 broad.mit.edu 37 16 15704907 15704907 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:15704907C>T uc002ddr.2 - 19 3869 c.3676G>A c.(3676-3678)GTA>ATA p.V1226I KIAA0430_uc002ddq.2_Missense_Mutation_p.V1060I|KIAA0430_uc010uzv.1_Missense_Mutation_p.V1222I|KIAA0430_uc010uzw.1_Missense_Mutation_p.V1225I NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 1225 peroxisome nucleotide binding|RNA binding 0 ATCTCTGATACGATGTCAATC 0.403 SCNN1G 6340 broad.mit.edu 37 16 23200704 23200704 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:23200704T>C uc002dlm.1 + 3 469 c.330T>C c.(328-330)GTT>GTC p.V110V NM_001039 NP_001030 P51170 SCNNG_HUMAN sodium channel, nonvoltage-gated 1, gamma 110 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) ACAGCACCGTTCGCCACCTTC 0.607 RBBP6 5930 broad.mit.edu 37 16 24580751 24580751 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:24580751A>G uc002dmh.2 + 17 3780 c.2740A>G c.(2740-2742)ACA>GCA p.T914A RBBP6_uc010vcb.1_Missense_Mutation_p.T781A|RBBP6_uc002dmi.2_Missense_Mutation_p.T880A|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.T747A NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 914 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) GAAGGATAATACAAAGTCAAA 0.403 ZNF48 197407 broad.mit.edu 37 16 30409177 30409177 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:30409177G>A uc002dya.1 + 2 665 c.606G>A c.(604-606)CGG>CGA p.R202R ZNF48_uc002dxz.1_Silent_p.R79R NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 202 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGAGCTTCCGGCAGAGTTCTG 0.612 PRSS36 146547 broad.mit.edu 37 16 31161349 31161349 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:31161349C>A uc002ebd.2 - 1 67 c.8G>T c.(7-9)CGG>CTG p.R3L PRSS36_uc010vff.1_5'Flank|PRSS36_uc010vfg.1_Missense_Mutation_p.R3L|PRSS36_uc010vfh.1_Missense_Mutation_p.R3L NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 3 proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 GAGCAGGTGCCGGGCCATGGC 0.642 ABCC11 85320 broad.mit.edu 37 16 48227793 48227793 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:48227793C>T uc002eff.1 - 18 2855 c.2505G>A c.(2503-2505)TCG>TCA p.S835S ABCC11_uc002efg.1_Silent_p.S835S|ABCC11_uc002efh.1_Silent_p.S835S|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 835 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.S835S(1) ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CACTCACCCCCGAGCCCTGCT 0.522 Cerumen_Type TOX3 27324 broad.mit.edu 37 16 52484318 52484318 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:52484318G>A uc002egw.2 - 4 720 c.549C>T c.(547-549)AGC>AGT p.S183S TOX3_uc010vgt.1_Silent_p.S178S|TOX3_uc010vgu.1_Silent_p.S183S NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 183 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 CCAACTGGGCGCTGAGCTGAG 0.587 RPGRIP1L 23322 broad.mit.edu 37 16 53682876 53682876 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:53682876C>T uc002ehp.2 - 16 2368 c.2304G>A c.(2302-2304)TCG>TCA p.S768S RPGRIP1L_uc002eho.3_Silent_p.S768S|RPGRIP1L_uc010vgy.1_Silent_p.S768S|RPGRIP1L_uc010cbx.2_Silent_p.S768S|RPGRIP1L_uc010vgz.1_Silent_p.S768S NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 768 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) ATGAGCTTACCGACTGCATAT 0.353 MMP2 4313 broad.mit.edu 37 16 55513508 55513508 + Silent SNP C C T rs139082366 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:55513508C>T uc002ehz.3 + 1 428 c.117C>T c.(115-117)GGC>GGT p.G39G MMP2_uc010vhd.1_5'Flank|MMP2_uc010ccc.2_5'Flank NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 39 angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) AGTTCCCCGGCGATGTCGCCC 0.662 CES7 221223 broad.mit.edu 37 16 55880490 55880490 + Missense_Mutation SNP G G A rs142487845 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:55880490G>A uc002eip.2 - 13 1750 c.1601C>T c.(1600-1602)CCG>CTG p.P534L CES7_uc002eio.2_Missense_Mutation_p.P484L|CES7_uc002eiq.2_Missense_Mutation_p.P295L|CES7_uc002eir.2_Missense_Mutation_p.P428L NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 534 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) ATCCACCCGCGGTTCTTTGAG 0.532 NLRC5 84166 broad.mit.edu 37 16 57054633 57054633 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:57054633C>A uc002ekk.1 + 3 234 c.9C>A c.(7-9)CCC>CCA p.P3P NLRC5_uc010ccq.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 3 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) TCATGGACCCCGTTGGCCTCC 0.458 DOK4 55715 broad.mit.edu 37 16 57507884 57507884 + Missense_Mutation SNP C C T rs146675149 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:57507884C>T uc010cdb.2 - 6 965 c.667G>A c.(667-669)GTC>ATC p.V223I DOK4_uc002elu.1_Missense_Mutation_p.V223I|DOK4_uc002elv.3_Missense_Mutation_p.V223I NM_018110 NP_060580 Q8TEW6 DOK4_HUMAN docking protein 4 223 IRS-type PTB. insulin receptor binding skin(1) 1 GCACTGTGGACGCGCTGGTAA 0.597 MMP15 4324 broad.mit.edu 37 16 58074522 58074522 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:58074522T>C uc002ena.2 + 5 1803 c.830T>C c.(829-831)ATG>ACG p.M277T NM_002428 NP_002419 P51511 MMP15_HUMAN matrix metalloproteinase 15 preproprotein 277 Extracellular (Potential). protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding central_nervous_system(2)|breast(1) 3 AATGCCATCATGGCGCCGTTC 0.607 RANBP10 57610 broad.mit.edu 37 16 67763726 67763726 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:67763726C>T uc002eud.2 - 9 1120 c.1004G>A c.(1003-1005)CGG>CAG p.R335Q RANBP10_uc010ceo.2_Missense_Mutation_p.R106Q|RANBP10_uc010vju.1_Missense_Mutation_p.R279Q|RANBP10_uc010vjv.1_Missense_Mutation_p.R218Q|RANBP10_uc010vjw.1_5'UTR NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 335 CTLH. ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) CACAAACTGCCGGCACCTGTG 0.627 CIRH1A 84916 broad.mit.edu 37 16 69184536 69184536 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:69184536C>T uc002ews.3 + 7 931 c.835C>T c.(835-837)CGG>TGG p.R279W CIRH1A_uc002ewr.2_Missense_Mutation_p.R279W|CIRH1A_uc002ewt.3_Missense_Mutation_p.R196W|CIRH1A_uc010cfi.2_Missense_Mutation_p.R196W|CIRH1A_uc010cfj.1_Missense_Mutation_p.R98W NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 279 nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) GCAGTGGGTGCGGACAAAACC 0.567 OREG0023906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FUK 197258 broad.mit.edu 37 16 70503177 70503177 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:70503177C>T uc002eyy.2 + 10 964 c.906C>T c.(904-906)AGC>AGT p.S302S FUK_uc010cft.2_Silent_p.S334S|FUK_uc002eyz.2_Intron NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 302 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) ATCTGCAGAGCGCCCGGGCCC 0.642 ZNF23 7571 broad.mit.edu 37 16 71483393 71483393 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:71483393A>G uc002faf.2 - 6 1349 c.535T>C c.(535-537)TGT>CGT p.C179R ZNF23_uc002fad.2_Missense_Mutation_p.C121R|ZNF23_uc002fae.2_Missense_Mutation_p.C121R|ZNF23_uc010vmf.1_Missense_Mutation_p.C121R|ZNF23_uc002fag.2_Missense_Mutation_p.C121R|ZNF23_uc002fah.2_Missense_Mutation_p.C179R|ZNF23_uc002fai.2_Missense_Mutation_p.C218R NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 179 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TGAGAGTCACACCTAAAGGGC 0.373 PHLPP2 23035 broad.mit.edu 37 16 71712666 71712666 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:71712666C>A uc002fax.2 - 7 1266 c.1260G>T c.(1258-1260)GTG>GTT p.V420V PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.V420V|PHLPP2_uc002fay.1_Silent_p.V420V NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 420 LRR 8. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 ACCTTAAATCCACATGCTTGA 0.378 CHST5 23563 broad.mit.edu 37 16 75563303 75563303 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:75563303T>G uc002fei.2 - 3 2375 c.980A>C c.(979-981)AAC>ACC p.N327T CHST5_uc002fej.1_Missense_Mutation_p.N333T NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 327 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GTGGGTGATGTTGTGGATCCA 0.667 BCMO1 53630 broad.mit.edu 37 16 81303868 81303868 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:81303868C>T uc002fgn.1 + 7 1166 c.948C>T c.(946-948)GAC>GAT p.D316D BCMO1_uc010vnp.1_Silent_p.D247D NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 316 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 ACGAAGAGGACGGCTGCATCG 0.537 KIAA1609 57707 broad.mit.edu 37 16 84520637 84520637 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:84520637C>T uc002fib.2 - 5 665 c.558G>A c.(556-558)TGG>TGA p.W186* KIAA1609_uc010vod.1_Nonsense_Mutation_p.W159*|KIAA1609_uc002fic.2_RNA NM_020947 NP_065998 Q6P9B6 K1609_HUMAN hypothetical protein LOC57707 186 protein binding ovary(2) 2 CATAGTCCAGCCACTGGGGCC 0.517 ZCCHC14 23174 broad.mit.edu 37 16 87446254 87446254 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:87446254G>T uc002fjz.1 - 12 1689 c.1662C>A c.(1660-1662)AGC>AGA p.S554R ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S330R NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 554 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) CGCTGCCAAAGCTCTTGTCCA 0.557 C16orf7 9605 broad.mit.edu 37 16 89774889 89774889 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:89774889C>T uc002fom.1 - 14 1873 c.1748G>A c.(1747-1749)GGC>GAC p.G583D C16orf7_uc002fol.1_Missense_Mutation_p.G513D NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN chromosome 16 open reading frame 7 583 VPS9. ATP synthesis coupled proton transport GTPase activator activity|transporter activity 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) CTGAGGGAGGCCGCTCCTCAG 0.672 TUBB3 10381 broad.mit.edu 37 16 89986504 89986504 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:89986504T>C uc002fpf.2 + 1 1246 c.838T>C c.(838-840)TTC>CTC p.F280L MC1R_uc002fpe.3_Missense_Mutation_p.F280L|TUBB3_uc010ciz.1_5'Flank NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 Error:Variant_position_missing_in_Q13509_after_alignment 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) CTTCAAGAACTTCAACCTCTT 0.587 NXN 64359 broad.mit.edu 37 17 725693 725693 + Missense_Mutation SNP G G A rs139124108 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:725693G>A uc002fsa.2 - 4 709 c.617C>T c.(616-618)CCG>CTG p.P206L NXN_uc002fsb.1_Missense_Mutation_p.P93L|NXN_uc010vqd.1_5'UTR|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Missense_Mutation_p.P98L NM_022463 NP_071908 Q6DKJ4 NXN_HUMAN nucleoredoxin 206 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity ovary(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) TCGGCAGGGCGGACACTGAAA 0.592 PRPF8 10594 broad.mit.edu 37 17 1581900 1581900 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:1581900G>A uc002fte.2 - 13 1880 c.1766C>T c.(1765-1767)ACG>ATG p.T589M NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 589 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ATACATGCCCGTCAACTGCCC 0.478 SMG6 23293 broad.mit.edu 37 17 2203279 2203279 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:2203279C>T uc002fub.1 - 2 823 c.768G>A c.(766-768)ACG>ACA p.T256T SMG6_uc002fud.1_Silent_p.T225T NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 256 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 TGGTGCTGCGCGTGCGGTAGC 0.662 GP1BA 2811 broad.mit.edu 37 17 4836563 4836563 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:4836563C>A uc010vsq.1 + 2 739 c.664C>A c.(664-666)CCC>ACC p.P222T uc002fzn.1_RNA NM_000173 NP_000164 P07359 GP1BA_HUMAN platelet glycoprotein Ib alpha polypeptide 222 0 CCACGGGAACCCCTGGTTATG 0.498 AIPL1 23746 broad.mit.edu 37 17 6328975 6328975 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:6328975C>T uc002gcp.2 - 6 1055 c.960G>A c.(958-960)CGG>CGA p.R320R AIPL1_uc002gcq.2_Silent_p.R260R|AIPL1_uc002gcr.2_Silent_p.R257R|AIPL1_uc010clk.2_Silent_p.R298R|AIPL1_uc010cll.2_Silent_p.R296R|AIPL1_uc002gcs.2_3'UTR NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting 320 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding 0 COAD - Colon adenocarcinoma(228;0.141) GGCAGCGCAGCCGCTCCTCCT 0.458 ASGR1 432 broad.mit.edu 37 17 7077743 7077743 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:7077743A>G uc002ges.3 - 6 802 c.392T>C c.(391-393)GTG>GCG p.V131A ASGR1_uc010clx.1_Missense_Mutation_p.V30A NM_001671 NP_001662 P07306 ASGR1_HUMAN asialoglycoprotein receptor 1 131 Extracellular (Probable). receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding breast(1)|central_nervous_system(1) 2 CAGGTCAGACACGAACTGCTT 0.667 NEURL4 84461 broad.mit.edu 37 17 7230998 7230998 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:7230998C>T uc002gga.1 - 2 495 c.488G>A c.(487-489)CGC>CAC p.R163H NEURL4_uc002ggb.1_Missense_Mutation_p.R163H|NEURL4_uc002ggc.1_5'Flank NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 163 NHR 1. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 AGCAACTGTGCGCTCCACGCC 0.642 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:7577121G>A uc002gim.2 - 8 1011 c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542 R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) NTN1 9423 broad.mit.edu 37 17 9066235 9066235 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:9066235C>T uc002glw.3 + 3 1231 c.1124C>T c.(1123-1125)ACC>ATC p.T375I NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 375 Laminin EGF-like 2. apoptosis|axon guidance protein binding 0 CGCCACAACACCGCCGGCCGC 0.632 NCOR1 9611 broad.mit.edu 37 17 16049688 16049688 + Splice_Site SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:16049688A>G uc002gpo.2 - 10 1322 c.1082_splice c.e10+1 p.R361_splice NCOR1_uc002gpn.2_Splice_Site_p.R361_splice|NCOR1_uc002gpp.1_Splice_Site_p.R252_splice|NCOR1_uc002gpr.2_Splice_Site_p.R252_splice|NCOR1_uc002gps.1_Splice_Site_p.R370_splice|NCOR1_uc010coz.1_Splice_Site_p.R177_splice|NCOR1_uc010cpb.1_Splice_Site_p.R370_splice|NCOR1_uc010cpa.1_Splice_Site_p.R361_splice NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CAAACTACTCACCGCTGAAAT 0.259 RAI1 10743 broad.mit.edu 37 17 17697546 17697546 + Silent SNP G G A rs113249215 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:17697546G>A uc002grm.2 + 3 1753 c.1284G>A c.(1282-1284)TCG>TCA p.S428S RAI1_uc002grn.1_Silent_p.S428S NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 428 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) ACCTGCTGTCGGATCTCAGCC 0.612 SREBF1 6720 broad.mit.edu 37 17 17721064 17721064 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:17721064G>A uc002gru.1 - 7 1544 c.1350C>T c.(1348-1350)AGC>AGT p.S450S SREBF1_uc002grp.1_Missense_Mutation_p.A20V|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_Silent_p.S196S|SREBF1_uc002grs.1_Silent_p.S426S|SREBF1_uc002grt.1_Silent_p.S480S|SREBF1_uc010cpp.1_Silent_p.S426S|SREBF1_uc010cpq.1_Silent_p.S450S NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 450 Gly/Pro/Ser-rich.|Cytoplasmic (Potential).|Interaction with LMNA (By similarity). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 CACTGCCACCGCTGCCACTGC 0.647 TOM1L2 146691 broad.mit.edu 37 17 17754256 17754256 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:17754256G>A uc002grz.3 - 13 1446 c.1289C>T c.(1288-1290)GCG>GTG p.A430V TOM1L2_uc002gry.3_Missense_Mutation_p.A380V|TOM1L2_uc010vwy.1_Missense_Mutation_p.A406V|TOM1L2_uc010cpr.2_Missense_Mutation_p.A385V|TOM1L2_uc010vwz.1_Missense_Mutation_p.A311V|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc002grv.3_Missense_Mutation_p.A163V NM_001082968 NP_001076437 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 isoform 3 430 intracellular protein transport intracellular 0 all_neural(463;0.228) AGATGGCTGCGCAACGGGGAT 0.587 CYTSB 92521 broad.mit.edu 37 17 20108736 20108736 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:20108736T>C uc002gwq.2 + 4 1519 c.1374T>C c.(1372-1374)ACT>ACC p.T458T CYTSB_uc010cqx.2_Silent_p.T458T|CYTSB_uc002gwr.2_Silent_p.T458T|CYTSB_uc002gws.2_Silent_p.T458T|CYTSB_uc002gwv.2_Silent_p.T377T|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Silent_p.T234T|CYTSB_uc002gwt.2_Silent_p.T377T|CYTSB_uc002gwu.2_Silent_p.T377T NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 458 nucleus 0 AGCCCACCACTCAGGAAGGAA 0.443 KCNJ12 3768 broad.mit.edu 37 17 21318878 21318878 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:21318878G>A uc002gyv.1 + 3 929 c.224G>A c.(223-225)TGT>TAT p.C75Y NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 75 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) TTCACCACCTGTGTGGACATC 0.572 Prostate(3;0.18) SLC13A2 9058 broad.mit.edu 37 17 26821104 26821104 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:26821104A>G uc002hbh.2 + 8 1234 c.1167A>G c.(1165-1167)CCA>CCG p.P389P SLC13A2_uc010wal.1_3'UTR|SLC13A2_uc010wam.1_Silent_p.P345P|SLC13A2_uc010wan.1_Silent_p.P438P|SLC13A2_uc010wao.1_Silent_p.P346P|SLC13A2_uc002hbi.2_Silent_p.P318P NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 389 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CCAAGTTCCCAGGGCTGACCC 0.557 MYO18A 399687 broad.mit.edu 37 17 27421841 27421841 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:27421841T>C uc002hdt.1 - 30 4695 c.4537A>G c.(4537-4539)ACC>GCC p.T1513A MYO18A_uc010wbc.1_Missense_Mutation_p.T1055A|MYO18A_uc002hds.2_Missense_Mutation_p.T1055A|MYO18A_uc010csa.1_Missense_Mutation_p.T1513A|MYO18A_uc002hdu.1_Missense_Mutation_p.T1513A NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1513 Potential. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) ACCTTCTGGGTGAACCCTGCA 0.552 NF1 4763 broad.mit.edu 37 17 29677318 29677318 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:29677318A>G uc002hgg.2 + 50 7772 c.7439A>G c.(7438-7440)CAT>CGT p.H2480R NF1_uc002hgh.2_Missense_Mutation_p.H2459R|NF1_uc010cso.2_Missense_Mutation_p.H668R|NF1_uc010wbt.1_Missense_Mutation_p.M11V|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2480 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CCCATTCATCATGGTGACCCT 0.363 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) CDK5R1 8851 broad.mit.edu 37 17 30815316 30815316 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:30815316G>A uc002hhn.2 + 2 899 c.678G>A c.(676-678)CTG>CTA p.L226L CDK5R1_uc010wca.1_Silent_p.L226L|CDK5R1_uc010ctc.2_5'UTR NM_003885 NP_003876 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 226 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) AGGCCGTCCTGCTGACATGCC 0.597 SPACA3 124912 broad.mit.edu 37 17 31324543 31324543 + Splice_Site SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:31324543T>C uc002hhs.1 + 4 656 c.581_splice c.e4+2 p.W194_splice SPACA3_uc010cte.1_Splice_Site NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.193) GGGTTACTGGTAAGTAACTTG 0.512 LIG3 3980 broad.mit.edu 37 17 33313055 33313055 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:33313055A>G uc002hik.1 + 3 704 c.596A>G c.(595-597)CAG>CGG p.Q199R LIG3_uc002hii.2_Missense_Mutation_p.Q199R|LIG3_uc002hij.2_Missense_Mutation_p.Q199R|LIG3_uc010cth.1_Missense_Mutation_p.Q208R NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 199 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) GCTGTTGTCCAGGCTAAGTTG 0.453 Other_BER_factors MMP28 79148 broad.mit.edu 37 17 34095306 34095306 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:34095306G>A uc002hjy.1 - 8 1202 c.943C>T c.(943-945)CGC>TGC p.R315C MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 315 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GTTTCAGGGCGCCTTCCTTGG 0.562 FBXL20 84961 broad.mit.edu 37 17 37455302 37455302 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:37455302C>T uc010wed.1 - 5 491 c.270G>A c.(268-270)GGG>GGA p.G90G FBXL20_uc002hrt.2_Silent_p.G90G|FBXL20_uc010cvu.2_Silent_p.G90G NM_032875 NP_116264 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 90 LRR 1. cytoplasm ovary(1) 1 LUAD - Lung adenocarcinoma(14;0.146) GTAAAAAGCCCCCACATCGTT 0.373 MED24 9862 broad.mit.edu 37 17 38191589 38191589 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:38191589C>T uc002htt.2 - 6 653 c.340G>A c.(340-342)GCA>ACA p.A114T MED24_uc010wes.1_5'UTR|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.A139T|MED24_uc002htu.2_Missense_Mutation_p.A101T|MED24_uc010cwn.2_Missense_Mutation_p.A101T|MED24_uc010weu.1_Missense_Mutation_p.A24T|MED24_uc010wev.1_Missense_Mutation_p.A64T|MED24_uc010wew.1_Missense_Mutation_p.A43T|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.A64T|MED24_uc010wfb.1_Missense_Mutation_p.A126T|MED24_uc010wfc.1_Missense_Mutation_p.A51T NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 114 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) CATTCCTCTGCTTTGCCGTGA 0.597 OREG0024387 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TOP2A 7153 broad.mit.edu 37 17 38562635 38562635 + Splice_Site SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:38562635C>T uc002huq.2 - 16 2079 c.1953_splice c.e16+1 p.L651_splice NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CTCAAACCTACCAGGCTGATA 0.328 GAST 2520 broad.mit.edu 37 17 39871806 39871806 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:39871806A>G uc002hxl.2 + 2 150 c.118A>G c.(118-120)AGG>GGG p.R40G JUP_uc010wfs.1_Intron NM_000805 NP_000796 P01350 GAST_HUMAN gastrin preproprotein 40 Cleavage. extracellular region hormone activity 0 Breast(137;0.000307) BRCA - Breast invasive adenocarcinoma(4;0.0677) AGGGGCCAACAGGGACCTGGA 0.632 JUP 3728 broad.mit.edu 37 17 39925443 39925443 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:39925443G>A uc002hxq.2 - 4 762 c.485C>T c.(484-486)GCG>GTG p.A162V JUP_uc010wfs.1_Missense_Mutation_p.A162V|JUP_uc002hxr.2_Missense_Mutation_p.A162V|JUP_uc002hxs.2_Missense_Mutation_p.A162V NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin 162 ARM 1. 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) AATCATGGCCGCCTTGGTCAC 0.657 FKBP10 60681 broad.mit.edu 37 17 39975515 39975515 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:39975515G>A uc002hxv.2 + 5 1106 c.781G>A c.(781-783)GTG>ATG p.V261M FKBP10_uc002hxw.1_Translation_Start_Site NM_021939 NP_068758 Q96AY3 FKB10_HUMAN FK506 binding protein 10 precursor 261 PPIase FKBP-type 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) CCTGATTGACGTGCACAACCC 0.617 CNTNAP1 8506 broad.mit.edu 37 17 40849679 40849679 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:40849679C>T uc002iay.2 + 22 3892 c.3676C>T c.(3676-3678)CGA>TGA p.R1226* CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 1226 Laminin G-like 4.|Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GACCCACTTCCGAACCCCTCG 0.552 DHX8 1659 broad.mit.edu 37 17 41570257 41570257 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:41570257C>T uc002idu.1 + 6 785 c.712C>T c.(712-714)CGG>TGG p.R238W DHX8_uc010wif.1_Missense_Mutation_p.R147W|DHX8_uc010wig.1_Missense_Mutation_p.R238W NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 238 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CCGGAAGGACCGGGACAAATA 0.542 PYY 5697 broad.mit.edu 37 17 42030346 42030346 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:42030346G>A uc002ieq.2 - 7 813 c.272C>T c.(271-273)TCG>TTG p.S91L PYY_uc002ier.1_3'UTR NM_004160 NP_004151 P10082 PYY_HUMAN peptide YY precursor 91 cell proliferation|cell-cell signaling|cellular component movement|cytoskeleton organization|digestion|G-protein coupled receptor protein signaling pathway soluble fraction 0 Breast(137;0.00314)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.12) TGGGCCCTCCGACCTGCGGAA 0.642 FMNL1 752 broad.mit.edu 37 17 43322710 43322710 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:43322710T>C uc002iin.2 + 22 3019 c.2819T>C c.(2818-2820)ATG>ACG p.M940T FMNL1_uc002iiq.2_Missense_Mutation_p.M518T|FMNL1_uc010dag.2_RNA|LOC100133991_uc010dah.2_5'Flank NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 940 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 GATGACTGCATGGTGCTCAAG 0.637 KPNB1 3837 broad.mit.edu 37 17 45734321 45734321 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:45734321G>A uc002ilt.1 + 4 714 c.378G>A c.(376-378)TGG>TGA p.W126* KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 126 HEAT 1. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TAAACCAGTGGCCAGAACTCA 0.502 KPNB1 3837 broad.mit.edu 37 17 45741591 45741591 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:45741591A>G uc002ilt.1 + 8 1189 c.853A>G c.(853-855)AAT>GAT p.N285D KPNB1_uc010wkw.1_Missense_Mutation_p.N140D|KPNB1_uc010wkx.1_Intron NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 285 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 ATTCTGGTCCAATGTCTGTGA 0.428 DLX3 1747 broad.mit.edu 37 17 48070879 48070879 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:48070879G>A uc002ipy.2 - 2 627 c.401C>T c.(400-402)ACG>ATG p.T134M NM_005220 NP_005211 O60479 DLX3_HUMAN distal-less homeobox 3 134 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGAGTAGATCGTACGCGGCTT 0.687 ITGA3 3675 broad.mit.edu 37 17 48151644 48151644 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:48151644G>A uc010dbl.2 + 9 1846 c.1382G>A c.(1381-1383)CGG>CAG p.R461Q ITGA3_uc010dbm.2_Missense_Mutation_p.R461Q NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 461 FG-GAP 7.|Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 GTGCTGCTGCGGTGAGCCAGG 0.527 MMD 23531 broad.mit.edu 37 17 53488653 53488653 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:53488653T>C uc002iui.2 - 3 519 c.234A>G c.(232-234)GTA>GTG p.V78V NM_012329 NP_036461 Q15546 PAQRB_HUMAN monocyte to macrophage 78 Helical; (Potential). cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity 0 CAATGTGAAATACTGTAGAAA 0.448 TRIM37 4591 broad.mit.edu 37 17 57093004 57093004 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:57093004G>A uc002iwy.3 - 21 2987 c.2543C>T c.(2542-2544)GCG>GTG p.A848V TRIM37_uc002iwz.3_Missense_Mutation_p.A848V|TRIM37_uc002ixa.3_Missense_Mutation_p.A726V|TRIM37_uc010woc.1_Missense_Mutation_p.A814V NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 848 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TTTCTCAACCGCAGGCAAGCC 0.398 Mulibrey_Nanism TBX2 6909 broad.mit.edu 37 17 59479301 59479301 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:59479301A>G uc010wox.1 + 2 933 c.652A>G c.(652-654)AAG>GAG p.K218E TBX2_uc002ize.2_Missense_Mutation_p.K208E|TBX2_uc002izg.2_Missense_Mutation_p.K64E NM_005994 NP_005985 Q13207 TBX2_HUMAN T-box 2 218 T-box. cell aging|positive regulation of cell proliferation sequence-specific DNA binding 0 CATCTCTGACAAGCACGGCTT 0.612 INTS2 57508 broad.mit.edu 37 17 59989018 59989018 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:59989018A>G uc002izn.2 - 7 917 c.841T>C c.(841-843)TTG>CTG p.L281L INTS2_uc002izm.2_Silent_p.L273L NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 281 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 TCCAATGTCAAAGCCACACCA 0.418 CSH1 1442 broad.mit.edu 37 17 61972426 61972426 + Missense_Mutation SNP G G A rs139446025 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:61972426G>A uc002jcs.1 - 5 726 c.610C>T c.(610-612)CGC>TGC p.R204C CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_3'UTR|CSH1_uc002jcq.1_Missense_Mutation_p.R165C|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Missense_Mutation_p.R170C|CSH1_uc002jcu.1_3'UTR|CSH1_uc002jcv.1_Missense_Mutation_p.R109C|CSH1_uc002jcw.2_3'UTR NM_001317 NP_001308 P01243 CSH_HUMAN chorionic somatomammotropin hormone 1 isoform 1 204 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding skin(1) 1 TGCACCATGCGCAGGAATGTC 0.582 Russell-Silver_syndrome UNC13D 201294 broad.mit.edu 37 17 73836367 73836367 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:73836367C>T uc002jpp.2 - 10 1177 c.797G>A c.(796-798)CGC>CAC p.R266H UNC13D_uc010wsk.1_Missense_Mutation_p.R266H|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Missense_Mutation_p.R63H NM_199242 NP_954712 Q70J99 UN13D_HUMAN unc-13 homolog D 266 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding upper_aerodigestive_tract(1)|skin(1) 2 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGTCTCAGTGCGGGGTTCCAG 0.647 Familial_Hemophagocytic_Lymphohistiocytosis USP36 57602 broad.mit.edu 37 17 76795011 76795011 + Silent SNP G G A rs148007252 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:76795011G>A uc002jvz.1 - 19 3544 c.3219C>T c.(3217-3219)GAC>GAT p.D1073D USP36_uc002jwa.1_Silent_p.D1073D|USP36_uc002jvy.1_Silent_p.D133D NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 1071 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CAAACTCTTCGTCCCAGTCAT 0.587 CCDC40 55036 broad.mit.edu 37 17 78013825 78013825 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:78013825C>T uc010dht.2 + 3 335 c.308C>T c.(307-309)CCG>CTG p.P103L CCDC40_uc010wub.1_Missense_Mutation_p.P103L NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 103 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) ACTTCATCCCCGGAAGGGCAA 0.398 NPTX1 4884 broad.mit.edu 37 17 78447193 78447193 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:78447193C>T uc002jyp.1 - 3 862 c.704G>A c.(703-705)CGG>CAG p.R235Q NM_002522 NP_002513 Q15818 NPTX1_HUMAN neuronal pentraxin I precursor 235 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding 0 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) ATAGTTGGTCCGCAGTGGGAA 0.557 HGS 9146 broad.mit.edu 37 17 79667727 79667727 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:79667727C>T uc002kbg.2 + 20 2096 c.2019C>T c.(2017-2019)AAC>AAT p.N673N MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank NM_004712 NP_004703 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine 673 Interaction with NF2.|Gln-rich. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) CTCCGCAGAACGTGGCCTCCC 0.542 PCYT2 5833 broad.mit.edu 37 17 79865653 79865653 + Missense_Mutation SNP C C G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:79865653C>G uc002kcf.1 - 5 551 c.488G>C c.(487-489)AGC>ACC p.S163T PCYT2_uc010wva.1_Missense_Mutation_p.S131T|PCYT2_uc010wvb.1_Missense_Mutation_p.S131T|PCYT2_uc002kce.1_Missense_Mutation_p.S85T|PCYT2_uc002kcg.1_Missense_Mutation_p.S174T|PCYT2_uc002kch.1_Missense_Mutation_p.S163T|PCYT2_uc002kci.1_Missense_Mutation_p.S104T|PCYT2_uc010dii.1_Missense_Mutation_p.S163T|PCYT2_uc010wvc.1_Missense_Mutation_p.S85T NM_002861 NP_002852 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 163 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) ACTCACCTGGCTGCTGTGATG 0.662 MYOM1 8736 broad.mit.edu 37 18 3215000 3215000 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:3215000C>T uc002klp.2 - 2 556 c.222G>A c.(220-222)TCG>TCA p.S74S MYOM1_uc002klq.2_Silent_p.S74S NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 74 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GGGCGTGCTGCGAGGCCTGCT 0.682 RBBP8 5932 broad.mit.edu 37 18 20516850 20516850 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:20516850C>A uc002ktw.2 + 2 367 c.36C>A c.(34-36)AAC>AAA p.N12K RBBP8_uc002kty.2_Missense_Mutation_p.N12K|RBBP8_uc002ktz.2_Missense_Mutation_p.N12K|RBBP8_uc002kua.2_Missense_Mutation_p.N12K|RBBP8_uc002ktx.1_Missense_Mutation_p.N12K NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 12 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) GAAGCCCTAACTCTGCAGATA 0.358 Direct_reversal_of_damage|Homologous_recombination CDH2 1000 broad.mit.edu 37 18 25532148 25532148 + Missense_Mutation SNP A A T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:25532148A>T uc002kwg.2 - 16 3149 c.2690T>A c.(2689-2691)CTT>CAT p.L897H CDH2_uc010xbn.1_Missense_Mutation_p.L866H NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 897 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 CATGTCAGCAAGTTTCTTGAA 0.468 ASXL3 80816 broad.mit.edu 37 18 31318982 31318982 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:31318982A>C uc010dmg.1 + 11 1669 c.1614A>C c.(1612-1614)GAA>GAC p.E538D ASXL3_uc002kxq.2_Missense_Mutation_p.E245D NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 538 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 ATCAGTTAGAAGTCTGTGACT 0.398 KIAA1632 57724 broad.mit.edu 37 18 43497754 43497754 + Silent SNP T T C rs113333959 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:43497754T>C uc002lbm.2 - 17 3229 c.3129A>G c.(3127-3129)CCA>CCG p.P1043P KIAA1632_uc002lbo.1_Silent_p.P1043P|KIAA1632_uc010xcq.1_5'Flank|KIAA1632_uc010xcr.1_5'Flank|KIAA1632_uc010xcs.1_5'Flank|KIAA1632_uc002lbn.2_5'UTR NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1043 autophagy 0 TTCCCAATAGTGGGATGCCTT 0.413 TCEB3B 51224 broad.mit.edu 37 18 44560001 44560001 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:44560001G>A uc002lcr.1 - 1 1988 c.1635C>T c.(1633-1635)AGC>AGT p.S545S KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 545 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 CTCCCACGTCGCTGAGGGCGT 0.607 MYO5B 4645 broad.mit.edu 37 18 47488638 47488638 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:47488638T>C uc002leb.2 - 12 1831 c.1543A>G c.(1543-1545)AAG>GAG p.K515E MYO5B_uc002lec.1_Missense_Mutation_p.K514E NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 515 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) AGTTTTACCTTACATTCTTCA 0.398 MAPK4 5596 broad.mit.edu 37 18 48190774 48190774 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:48190774A>G uc002lev.2 + 2 1446 c.446A>G c.(445-447)GAC>GGC p.D149G MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.D149G NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 149 Protein kinase. Proton acceptor (By similarity). cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) CTGCACAGGGACCTGAAGCCC 0.572 DCC 1630 broad.mit.edu 37 18 50866217 50866217 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:50866217C>A uc002lfe.1 + 15 2886 c.2299C>A c.(2299-2301)CCT>ACT p.P767T DCC_uc010xdr.1_Missense_Mutation_p.P615T|DCC_uc010dpf.1_Missense_Mutation_p.P422T NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 767 Extracellular (Potential).|Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CGTTGGGAGCCCTTACGCTGA 0.458 C18orf54 162681 broad.mit.edu 37 18 51888064 51888064 + Missense_Mutation SNP G G C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:51888064G>C uc002lfn.3 + 3 451 c.335G>C c.(334-336)AGA>ACA p.R112T C18orf54_uc002lfo.3_Missense_Mutation_p.R112T NM_173529 NP_775800 Q8IYD9 CR054_HUMAN hypothetical protein LOC162681 precursor 112 extracellular region ovary(1)|skin(1) 2 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) TCCTGTAGAAGACACACCGTT 0.338 ALPK2 115701 broad.mit.edu 37 18 56203863 56203863 + Missense_Mutation SNP G G A rs139032503 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:56203863G>A uc002lhj.3 - 5 3770 c.3556C>T c.(3556-3558)CGC>TGC p.R1186C ALPK2_uc002lhk.1_Missense_Mutation_p.R517C NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1186 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CAACCTGAGCGCTGCCCTGCT 0.552 MC4R 4160 broad.mit.edu 37 18 58038752 58038752 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:58038752A>G uc002lie.1 - 1 1250 c.831T>C c.(829-831)TGT>TGC p.C277C NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 277 Extracellular (Potential). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) TGAAGCACACACAATATGGAT 0.423 PIGN 23556 broad.mit.edu 37 18 59742043 59742043 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:59742043A>G uc002lii.3 - 30 3036 c.2588T>C c.(2587-2589)ATT>ACT p.I863T PIGN_uc002lij.3_Missense_Mutation_p.I863T NM_176787 NP_789744 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, 863 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Colorectal(73;0.187) GACGAGAACAATGAGAAAAAG 0.323 TSHZ1 10194 broad.mit.edu 37 18 72998236 72998236 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:72998236C>T uc002lly.2 + 2 1302 c.739C>T c.(739-741)CGC>TGC p.R247C NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 292 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GCCCAGGAAGCGCTCCCTGAT 0.577 SALL3 27164 broad.mit.edu 37 18 76757273 76757273 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:76757273G>A uc002lmt.2 + 3 3854 c.3854G>A c.(3853-3855)CGC>CAC p.R1285H SALL3_uc010dra.2_Missense_Mutation_p.R820H NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1285 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) GCAGCCAGCCGCCCATTCACG 0.572 MED16 10025 broad.mit.edu 37 19 873579 873579 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:873579A>G uc002lqd.1 - 11 1926 c.1775T>C c.(1774-1776)ATT>ACT p.I592T MED16_uc010drw.1_Missense_Mutation_p.I417T|MED16_uc002lqe.2_Missense_Mutation_p.I581T|MED16_uc002lqf.2_Missense_Mutation_p.I581T|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Missense_Mutation_p.I512T|MED16_uc010xfx.1_Missense_Mutation_p.I437T|MED16_uc010xfy.1_Missense_Mutation_p.I169T|MED16_uc010xfz.1_RNA NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 592 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)|STAD - Stomach adenocarcinoma(1328;0.18) GACCTTGTCAATGTCTACAAG 0.577 EFNA2 1943 broad.mit.edu 37 19 1298589 1298589 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:1298589G>A uc002lry.1 + 3 494 c.494G>A c.(493-495)CGA>CAA p.R165Q NM_001405 NP_001396 O43921 EFNA2_HUMAN ephrin-A2 precursor 165 cell-cell signaling anchored to membrane|plasma membrane ephrin receptor binding 0 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)|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)|STAD - Stomach adenocarcinoma(1328;0.18) CCCTGCCTGCGACTGAAGGTG 0.627 TMPRSS9 360200 broad.mit.edu 37 19 2422198 2422198 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:2422198C>T uc010xgx.1 + 13 2399 c.2399C>T c.(2398-2400)ACG>ATG p.T800M NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 800 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 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) AGGGGACAGACGCCATTTCCA 0.642 TLE2 7089 broad.mit.edu 37 19 3028785 3028785 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:3028785C>T uc002lww.2 - 2 304 c.41G>A c.(40-42)GGC>GAC p.G14D TLE2_uc010dth.2_Missense_Mutation_p.G14D|TLE2_uc010xhc.1_5'UTR|TLE2_uc010dti.2_Missense_Mutation_p.G27D|TLE2_uc010xhd.1_Missense_Mutation_p.G14D NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 14 Gln-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 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) GAAGGGCTGGCCGGACTGGAG 0.642 ATCAY 85300 broad.mit.edu 37 19 3907777 3907777 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:3907777C>T uc002lyy.3 + 5 834 c.404C>T c.(403-405)GCG>GTG p.A135V ATCAY_uc010xhz.1_Missense_Mutation_p.A141V|ATCAY_uc010dts.2_5'Flank NM_033064 NP_149053 Q86WG3 ATCAY_HUMAN caytaxin 135 transport protein binding breast(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) GGGGACAGCGCGGATCTATTT 0.657 SH3GL1 6455 broad.mit.edu 37 19 4365543 4365543 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:4365543C>T uc002maj.2 - 4 373 c.267G>A c.(265-267)TCG>TCA p.S89S SH3GL1_uc002mak.2_Intron|SH3GL1_uc010xig.1_Intron NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 89 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) GAAGCCCCTCCGACTGCGGGT 0.652 T MLL AL PLIN4 729359 broad.mit.edu 37 19 4512549 4512549 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:4512549C>T uc002mar.1 - 3 1381 c.1381G>A c.(1381-1383)GGT>AGT p.G461S PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 461 27 X 33 AA approximate tandem repeat.|12. lipid particle|plasma membrane 0 TTCGCAGCACCGGTGACCCCA 0.577 EMR1 2015 broad.mit.edu 37 19 6924780 6924780 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:6924780G>A uc002mfw.2 + 15 1921 c.1883G>A c.(1882-1884)CGC>CAC p.R628H EMR1_uc010dvc.2_Intron|EMR1_uc010dvb.2_Missense_Mutation_p.R576H|EMR1_uc010xji.1_Missense_Mutation_p.R487H|EMR1_uc010xjj.1_Missense_Mutation_p.R451H NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 628 Cytoplasmic (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) CTGCTGTGTCGCTCCATCCGA 0.517 ZNF358 140467 broad.mit.edu 37 19 7585134 7585134 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:7585134C>T uc002mgn.2 + 2 1176 c.1006C>T c.(1006-1008)CAC>TAC p.H336Y MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 336 C2H2-type 7. embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CAACTTGCAACACCACCTGCG 0.697 HNRNPM 4670 broad.mit.edu 37 19 8550540 8550540 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:8550540C>T uc010dwe.2 + 14 1308 c.1228C>T c.(1228-1230)CGC>TGC p.R410C HNRNPM_uc010xke.1_Missense_Mutation_p.R356C|HNRNPM_uc010dwd.2_Missense_Mutation_p.R371C|HNRNPM_uc002mka.2_Missense_Mutation_p.R275C|HNRNPM_uc002mkb.1_5'Flank NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 410 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|2. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 TGGCATTGACCGCCTCGGGGG 0.647 MBD3L1 85509 broad.mit.edu 37 19 8953580 8953580 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:8953580G>A uc002mko.2 + 1 312 c.226G>A c.(226-228)GCT>ACT p.A76T NM_145208 NP_660209 Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 76 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 GGGACTCCAGGCTTACAGCAG 0.517 MUC16 94025 broad.mit.edu 37 19 9047875 9047875 + Silent SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:9047875A>C uc002mkp.2 - 5 33960 c.33756T>G c.(33754-33756)ACT>ACG p.T11252T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11254 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGACAGTCAAAGTTGGAACAA 0.483 MUC16 94025 broad.mit.edu 37 19 9061285 9061285 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:9061285A>C uc002mkp.2 - 3 26365 c.26161T>G c.(26161-26163)TCA>GCA p.S8721A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8723 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCTGTTGCTGAGCTGGTCTCT 0.502 MUC16 94025 broad.mit.edu 37 19 9085145 9085145 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:9085145C>T uc002mkp.2 - 1 6874 c.6670G>A c.(6670-6672)GCA>ACA p.A2224T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2224 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTGGACCTGCGCTGTTTACT 0.483 COL5A3 50509 broad.mit.edu 37 19 10071325 10071325 + Splice_Site SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:10071325A>G uc002mmq.1 - 66 5177 c.5091_splice c.e66+1 p.R1697_splice NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CCACCCTCTTACCCGGCAGCC 0.617 PPAN-P2RY11 692312 broad.mit.edu 37 19 10220665 10220665 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:10220665C>A uc002mna.2 + 7 667 c.667C>A c.(667-669)CGC>AGC p.R223S PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.R223S|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.R223S|PPAN_uc002mnb.1_Missense_Mutation_p.R170S NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein 223 Brix. RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CAACATGAGCCGCCTGCAGGA 0.637 CDC37 11140 broad.mit.edu 37 19 10503997 10503997 + Missense_Mutation SNP G G A rs143134175 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:10503997G>A uc002mof.1 - 6 963 c.847C>T c.(847-849)CGC>TGC p.R283C CDC37_uc002moe.1_Missense_Mutation_p.R238C|CDC37_uc010dxf.1_Missense_Mutation_p.R120C|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Missense_Mutation_p.R283C NM_007065 NP_008996 Q16543 CDC37_HUMAN cell division cycle 37 protein 283 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding 0 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) CGCTTCTTGCGCTCCTCCTCC 0.692 SLC44A2 57153 broad.mit.edu 37 19 10738420 10738420 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:10738420T>C uc002mpf.2 + 3 248 c.109T>C c.(109-111)TGT>CGT p.C37R SLC44A2_uc002mpe.3_Missense_Mutation_p.C35R NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN solute carrier family 44, member 2 isoform 1 37 Helical; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity ovary(1) 1 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) TATCATATGCTGTGTGTTCCT 0.587 ELAVL3 1995 broad.mit.edu 37 19 11577547 11577547 + Silent SNP G G A rs144461011 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:11577547G>A uc002mry.1 - 2 485 c.105C>T c.(103-105)GAC>GAT p.D35D ELAVL3_uc002mrx.1_Silent_p.D35D NM_001420 NP_001411 Q14576 ELAV3_HUMAN ELAV-like protein 3 isoform 1 35 cell differentiation|nervous system development AU-rich element binding|nucleotide binding ovary(1)|breast(1)|skin(1) 3 TCTTGCTGTCGTCAGTGGCTC 0.488 ZNF44 51710 broad.mit.edu 37 19 12384634 12384634 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:12384634A>G uc010xmj.1 - 5 785 c.580T>C c.(580-582)TGT>CGT p.C194R ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.C146R NM_001164276 NP_001157748 P15621 ZNF44_HUMAN zinc finger protein 44 isoform 1 194 C2H2-type 1; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) CCTTTCCCACACTGCTTATGT 0.423 ZNF490 57474 broad.mit.edu 37 19 12721453 12721453 + Silent SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:12721453G>T uc002mtz.2 - 1 171 c.42C>A c.(40-42)CCC>CCA p.P14P ZNF791_uc002mua.2_5'Flank|ZNF791_uc010xml.1_5'Flank|ZNF791_uc010dyu.1_5'Flank|ZNF791_uc010xmm.1_5'Flank NM_020714 NP_065765 Q9ULM2 ZN490_HUMAN zinc finger protein 490 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCTCCTCGAGGGGTCGCTCCA 0.582 ASNA1 439 broad.mit.edu 37 19 12856282 12856282 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:12856282A>C uc002muv.2 + 3 415 c.401A>C c.(400-402)GAG>GCG p.E134A ASNA1_uc002muw.2_Missense_Mutation_p.E133A NM_004317 NP_004308 O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 134 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding ovary(2) 2 Adenosine triphosphate(DB00171) ATGATGCAGGAGGCCATGAGC 0.642 EMR2 30817 broad.mit.edu 37 19 14863294 14863294 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:14863294G>A uc002mzp.1 - 15 2091 c.1635C>T c.(1633-1635)AGC>AGT p.S545S EMR2_uc010dzs.1_Silent_p.S4S|EMR2_uc010xnw.1_Silent_p.S487S|EMR2_uc002mzo.1_Silent_p.S534S|EMR2_uc002mzq.1_Silent_p.S485S|EMR2_uc002mzr.1_Silent_p.S496S|EMR2_uc002mzs.1_Silent_p.S403S|EMR2_uc002mzt.1_Silent_p.S441S|EMR2_uc002mzu.1_Silent_p.S452S|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 545 Helical; Name=1; (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 GCAGAGAGACGCTCAGCCCCA 0.572 OR10H1 26539 broad.mit.edu 37 19 15918305 15918305 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:15918305C>T uc002nbq.2 - 1 632 c.543G>A c.(541-543)GTG>GTA p.V181V NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACAGAGGTGGCACATGGCAAG 0.582 GTPBP3 84705 broad.mit.edu 37 19 17450245 17450245 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:17450245C>T uc010eas.2 + 7 876 c.811C>T c.(811-813)CGG>TGG p.R271W GTPBP3_uc010xpo.1_Missense_Mutation_p.R293W|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.R271W|GTPBP3_uc002ngg.3_Missense_Mutation_p.R303W|GTPBP3_uc002ngi.3_5'UTR NM_032620 NP_116009 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) isoform V 271 tRNA modification mitochondrion GTP binding|GTPase activity skin(1) 1 TCCCCCAGGTCGGAAGCCTGT 0.622 KCNN1 3780 broad.mit.edu 37 19 18085948 18085948 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:18085948G>A uc002nht.2 + 4 760 c.450G>A c.(448-450)ACG>ACA p.T150T KCNN1_uc010xqa.1_Silent_p.T150T NM_002248 NP_002239 Q92952 KCNN1_HUMAN potassium intermediate/small conductance 150 Helical; Name=Segment S2; (Potential). synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity 0 GCCTCTCCACGGCCATCCTGC 0.592 MAST3 23031 broad.mit.edu 37 19 18242839 18242839 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:18242839G>A uc002nhz.3 + 14 1466 c.1466G>A c.(1465-1467)CGT>CAT p.R489H NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 489 Protein kinase. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 ATCGTGCACCGTGACCTCAAA 0.637 SFRS14 10147 broad.mit.edu 37 19 19136411 19136411 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:19136411T>A uc002nkx.2 - 3 892 c.746A>T c.(745-747)AAT>ATT p.N249I SFRS14_uc002nkz.1_Missense_Mutation_p.N263I|SFRS14_uc002nla.1_Missense_Mutation_p.N249I|SFRS14_uc002nlb.2_Missense_Mutation_p.N249I|SFRS14_uc010xqk.1_Intron NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 249 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) TGTGCTCACATTTCTCAATGT 0.483 NCAN 1463 broad.mit.edu 37 19 19329855 19329855 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:19329855G>A uc002nlz.2 + 3 304 c.205G>A c.(205-207)GCA>ACA p.A69T NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 69 Ig-like V-type. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) ACGGCCAAGCGCAGCCCGAGA 0.657 ZNF101 94039 broad.mit.edu 37 19 19790896 19790896 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:19790896T>C uc002nni.1 + 4 1208 c.1098T>C c.(1096-1098)TAT>TAC p.Y366Y ZNF101_uc010ecg.1_Silent_p.Y246Y|ZNF101_uc002nnj.1_Silent_p.Y246Y NM_033204 NP_149981 Q8IZC7 ZN101_HUMAN zinc finger protein 101 366 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AAAAGCCATATGAATGTACAA 0.388 RHPN2 85415 broad.mit.edu 37 19 33535190 33535190 + Silent SNP G G A rs140849987 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:33535190G>A uc002nuf.2 - 2 216 c.150C>T c.(148-150)GCC>GCT p.A50A RHPN2_uc010xro.1_5'UTR NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 50 REM.|Interaction with Rho. signal transduction perinuclear region of cytoplasm protein binding central_nervous_system(5)|ovary(1) 6 Esophageal squamous(110;0.137) TCATCCGCACGGCTTTCAGGA 0.512 GPI 2821 broad.mit.edu 37 19 34868778 34868778 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:34868778G>A uc002nvg.1 + 6 728 c.625G>A c.(625-627)GCC>ACC p.A209T GPI_uc002nvf.2_Missense_Mutation_p.A248T|GPI_uc010xrv.1_Missense_Mutation_p.A220T|GPI_uc010xrw.1_Missense_Mutation_p.A181T|GPI_uc010edl.1_Missense_Mutation_p.A209T NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 209 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) GTTCATCATTGCCTCCAAGGT 0.597 ZNF599 148103 broad.mit.edu 37 19 35251100 35251100 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:35251100C>T uc010edn.1 - 4 994 c.606G>A c.(604-606)ACG>ACA p.T202T ZNF599_uc010edm.1_Silent_p.T165T NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 202 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TCCCACATTCCGTGCATGTGT 0.498 ZNF829 374899 broad.mit.edu 37 19 37406110 37406110 + Translation_Start_Site SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:37406110C>T uc002ofa.1 - 2 322 c.-40G>A c.(-42--38)CAGTG>CAATG ZNF568_uc010efg.2_5'Flank|ZNF568_uc010xtn.1_5'Flank|ZNF829_uc002ofb.2_Translation_Start_Site|ZNF568_uc002ofc.2_5'Flank|ZNF568_uc002ofd.2_5'Flank|ZNF568_uc010efe.2_5'Flank|ZNF568_uc010eff.1_5'Flank NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTTGTGTTCACTGCTGTCCAG 0.517 RYR1 6261 broad.mit.edu 37 19 38939370 38939370 + Missense_Mutation SNP G G A rs138647682 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:38939370G>A uc002oit.2 + 11 1169 c.1039G>A c.(1039-1041)GTG>ATG p.V347M RYR1_uc002oiu.2_Missense_Mutation_p.V347M NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 347 Cytoplasmic.|MIR 5. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACTGTGCTTCGTGCAGCATGT 0.602 RYR1 6261 broad.mit.edu 37 19 38948733 38948733 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:38948733G>A uc002oit.2 + 18 2098 c.1968G>A c.(1966-1968)ACG>ACA p.T656T RYR1_uc002oiu.2_Silent_p.T656T NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 656 Cytoplasmic.|B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AAGGCACCACGCAGTACAGCA 0.612 IL28A 282616 broad.mit.edu 37 19 39760138 39760138 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:39760138G>A uc002oku.1 + 4 333 c.281G>A c.(280-282)CGC>CAC p.R94H NM_172138 NP_742150 Q8IZJ0 IL28A_HUMAN interleukin 28A precursor 94 response to virus extracellular space cytokine activity ovary(1)|skin(1) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GTGAGGGAGCGCCCCATGGCT 0.373 TIMM50 92609 broad.mit.edu 37 19 39976416 39976416 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:39976416T>C uc002olu.1 + 6 903 c.770T>C c.(769-771)CTC>CCC p.L257P TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'UTR NM_001001563 NP_001001563 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 154 Mitochondrial intermembrane (Potential).|FCP1 homology. mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding ovary(1) 1 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GTTTTGGAGCTCACCGGCGTC 0.453 ZNF780B 163131 broad.mit.edu 37 19 40542152 40542152 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:40542152T>C uc002omu.2 - 5 679 c.614A>G c.(613-615)CAC>CGC p.H205R ZNF780B_uc002omv.2_Missense_Mutation_p.H57R NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 205 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AAGTTGTATGTGAAGTTGAAA 0.363 BCKDHA 593 broad.mit.edu 37 19 41916646 41916646 + Silent SNP C C T rs138025447 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:41916646C>T uc002oqq.2 + 2 242 c.213C>T c.(211-213)AAC>AAT p.N71N CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.N105N|BCKDHA_uc002oqp.1_Translation_Start_Site|BCKDHA_uc002oqr.2_Silent_p.N71N|BCKDHA_uc010xvz.1_Silent_p.N49N NM_000709 NP_000700 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha 71 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding 0 TCCAGCCCAACGTCATCTCTG 0.597 ZNF574 64763 broad.mit.edu 37 19 42585199 42585199 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:42585199G>A uc002osm.3 + 2 2610 c.2441G>A c.(2440-2442)CGC>CAC p.R814H ZNF574_uc002osk.3_Missense_Mutation_p.R904H NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 814 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) GAACATCGCCGCATCCACACA 0.612 DHDH 27294 broad.mit.edu 37 19 49442913 49442913 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:49442913C>T uc002ple.1 + 4 614 c.574C>T c.(574-576)CAG>TAG p.Q192* NM_014475 NP_055290 Q9UQ10 DHDH_HUMAN dimeric dihydrodiol dehydrogenase 192 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) CTTTGGAGGGCAGAAGCCAGA 0.562 VRK3 51231 broad.mit.edu 37 19 50482394 50482394 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:50482394C>T uc002prg.2 - 14 1480 c.1382G>A c.(1381-1383)CGT>CAT p.R461H VRK3_uc002prh.1_Missense_Mutation_p.R461H|VRK3_uc002pri.1_Missense_Mutation_p.R411H|VRK3_uc010ens.2_Missense_Mutation_p.R461H|VRK3_uc010ybl.1_Missense_Mutation_p.R411H|VRK3_uc010ybm.1_Missense_Mutation_p.R230H NM_016440 NP_057524 Q8IV63 VRK3_HUMAN vaccinia related kinase 3 isoform 1 461 nucleus ATP binding|protein kinase activity stomach(1)|skin(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) TGGAGACACACGCAGATCCTG 0.572 NAPSA 9476 broad.mit.edu 37 19 50861861 50861861 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:50861861G>A uc002prx.2 - 9 1265 c.1212C>T c.(1210-1212)CGC>CGT p.R404R NR1H2_uc002prv.3_Intron NM_004851 NP_004842 O96009 NAPSA_HUMAN napsin A preproprotein 404 proteolysis extracellular region aspartic-type endopeptidase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) GGTCCGCTCCGCGAGTGCGAG 0.697 KLK4 9622 broad.mit.edu 37 19 51410327 51410327 + Missense_Mutation SNP G G C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:51410327G>C uc002pua.1 - 5 628 c.628C>G c.(628-630)CCC>GCC p.P210A KLK4_uc002pty.1_3'UTR|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Missense_Mutation_p.P115A|KLK4_uc002puc.1_RNA NM_004917 NP_004908 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 preproprotein 210 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) CAGATCAGGGGCCCCCCAGAG 0.527 KLK8 11202 broad.mit.edu 37 19 51503767 51503767 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:51503767G>A uc002pur.1 - 3 322 c.143C>T c.(142-144)GCG>GTG p.A48V KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Missense_Mutation_p.A93V|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.A48V|KLK9_uc002puv.1_Intron NM_007196 NP_009127 O60259 KLK8_HUMAN kallikrein 8 isoform 1 preproprotein 48 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) GAACAAGGCCGCCTGCCAAGG 0.597 FPR1 2357 broad.mit.edu 37 19 52249649 52249649 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:52249649A>G uc002pxq.2 - 2 694 c.599T>C c.(598-600)GTG>GCG p.V200A NM_002029 NP_002020 P21462 FPR1_HUMAN formyl peptide receptor 1 200 Extracellular (Potential). activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity ovary(1)|lung(1)|skin(1) 3 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GATGCCTCTCACCGTCAACAT 0.512 ZNF611 81856 broad.mit.edu 37 19 53217351 53217351 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:53217351G>A uc002pzz.2 - 6 424 c.107C>T c.(106-108)GCA>GTA p.A36V ZNF611_uc010eqc.2_5'UTR|ZNF611_uc010ydo.1_Intron|ZNF611_uc010ydr.1_Intron|ZNF611_uc010ydp.1_Missense_Mutation_p.A36V|ZNF611_uc010ydq.1_Missense_Mutation_p.A36V|ZNF611_uc002qaa.3_5'UTR NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TTTCCACTCTGCCAATGAGAA 0.448 VN1R2 317701 broad.mit.edu 37 19 53762612 53762612 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:53762612C>T uc002qbi.2 + 1 1068 c.984C>T c.(982-984)TAC>TAT p.Y328Y NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 328 Helical; Name=6; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) CATTATGTTACGCCCTTTCCT 0.443 VN1R2 317701 broad.mit.edu 37 19 53762736 53762736 + Missense_Mutation SNP C C A rs141012802 by1000genomes TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:53762736C>A uc002qbi.2 + 1 1192 c.1108C>A c.(1108-1110)CGT>AGT p.R370S NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 370 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) TCTCATGTGCCGTGACCCCAG 0.428 LILRB5 10990 broad.mit.edu 37 19 54758702 54758702 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:54758702G>A uc002qex.2 - 6 1262 c.1151C>T c.(1150-1152)CCT>CTT p.P384L LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.P375L|LILRB5_uc002qey.2_Missense_Mutation_p.P384L|LILRB5_uc002qez.2_Missense_Mutation_p.P284L|LILRB5_uc002qfa.1_Missense_Mutation_p.P274L|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 384 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGAGGTCACAGGACTCATGGA 0.557 NLRP2 55655 broad.mit.edu 37 19 55489190 55489190 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:55489190A>C uc002qij.2 + 4 482 c.396A>C c.(394-396)CAA>CAC p.Q132H NLRP2_uc010yfp.1_Missense_Mutation_p.Q109H|NLRP2_uc010esn.2_Intron|NLRP2_uc010eso.2_Missense_Mutation_p.Q132H|NLRP2_uc010esp.2_Missense_Mutation_p.Q132H NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 132 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CAGAAGCACAAGGTGGGTGTC 0.527 TMEM190 147744 broad.mit.edu 37 19 55889219 55889219 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:55889219C>T uc002qkt.1 + 4 288 c.270C>T c.(268-270)GGC>GGT p.G90G NM_139172 NP_631911 Q8WZ59 TM190_HUMAN transmembrane protein 190 precursor 90 Helical; (Potential). integral to membrane 0 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CGTGCAGCGGCCTCCTCCTCC 0.697 NLRP9 338321 broad.mit.edu 37 19 56244332 56244332 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:56244332G>A uc002qly.2 - 2 893 c.865C>T c.(865-867)CAT>TAT p.H289Y NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 289 NACHT. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AGTTTTGGATGCCGCAACATA 0.383 ZNF667 63934 broad.mit.edu 37 19 56953331 56953331 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:56953331G>T uc002qnd.2 - 5 1195 c.1033C>A c.(1033-1035)CTG>ATG p.L345M ZNF667_uc010etl.2_Missense_Mutation_p.L127M|ZNF667_uc002qne.2_Missense_Mutation_p.L345M|ZNF667_uc010etm.2_Missense_Mutation_p.L288M NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 345 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TGAAGCATCAGGGGTGAAATC 0.393 ZNF548 147694 broad.mit.edu 37 19 57910578 57910578 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:57910578C>T uc002qom.2 + 3 1173 c.923C>T c.(922-924)CCG>CTG p.P308L ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.P311L NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAGAAAGGCCGTATGAGTGC 0.448 ZNF274 10782 broad.mit.edu 37 19 58723003 58723003 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:58723003C>T uc002qrq.1 + 9 1389 c.930C>T c.(928-930)ACC>ACT p.T310T ZNF274_uc002qrr.1_Silent_p.T278T|ZNF274_uc002qrs.1_Silent_p.T205T|ZNF274_uc010eum.1_Silent_p.T69T NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 310 KRAB 2. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) CACAGAGGACCGAGTACCGCG 0.607 ZNF324 25799 broad.mit.edu 37 19 58980632 58980632 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:58980632G>A uc002qsw.1 + 2 174 c.80G>A c.(79-81)CGC>CAC p.R27H ZNF324_uc002qsx.1_5'Flank NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GCCCTGTACCGCCGCGTGATG 0.572 RNF144A 9781 broad.mit.edu 37 2 7170255 7170255 + Splice_Site SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:7170255A>G uc002qys.2 + 8 1100 c.658_splice c.e8-2 p.D220_splice RNF144A_uc002qyt.2_Splice_Site_p.D69_splice NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 Golgi apparatus|integral to membrane ligase activity|zinc ion binding ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) TGCCCCTCACAGGATGATTTC 0.527 SMC6 79677 broad.mit.edu 37 2 17922967 17922967 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:17922967A>G uc002rco.2 - 4 446 c.150T>C c.(148-150)AGT>AGC p.S50S SMC6_uc010exo.2_Silent_p.S50S|SMC6_uc002rcn.2_Silent_p.S50S|SMC6_uc002rcp.1_Silent_p.S50S|SMC6_uc002rcq.2_Silent_p.S50S|SMC6_uc002rcr.1_Silent_p.S50S NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 50 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTAGGTGAATACTCTCAATTA 0.328 MSGN1 343930 broad.mit.edu 37 2 17998310 17998310 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:17998310C>T uc010yjt.1 + 1 525 c.525C>T c.(523-525)ATC>ATT p.I175I NM_001105569 NP_001099039 A6NI15 MSGN1_HUMAN mesogenin 1 175 Helix-loop-helix motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCAAGTACATCGGGGAACTCA 0.597 NT5C1B 93034 broad.mit.edu 37 2 18764262 18764262 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:18764262G>A uc002rcz.2 - 7 1177 c.1073C>T c.(1072-1074)GCA>GTA p.A358V NT5C1B_uc002rcy.2_Missense_Mutation_p.A358V|NT5C1B_uc010exr.2_Missense_Mutation_p.A300V|NT5C1B_uc010yju.1_Missense_Mutation_p.A298V|NT5C1B_uc002rda.2_Missense_Mutation_p.A298V|NT5C1B_uc010yjv.1_Missense_Mutation_p.A375V|NT5C1B_uc010yjw.1_Missense_Mutation_p.A341V|NT5C1B_uc010exs.2_Missense_Mutation_p.A360V NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 358 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) ATACTGTAGTGCCTGCAGGTT 0.463 SDC1 6382 broad.mit.edu 37 2 20403769 20403769 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:20403769C>A uc002rdo.1 - 3 731 c.432G>T c.(430-432)ACG>ACT p.T144T SDC1_uc002rdp.1_Silent_p.T144T|SDC1_uc010exv.2_Silent_p.T144T|SDC1_uc010exw.1_RNA NM_002997 NP_002988 P18827 SDC1_HUMAN syndecan 1 precursor 144 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding ovary(4)|skin(1) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) GCTCCTGGGCCGTGGTGGCTG 0.687 C2orf44 80304 broad.mit.edu 37 2 24260710 24260710 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:24260710T>C uc002rep.2 - 2 1786 c.1655A>G c.(1654-1656)AAG>AGG p.K552R C2orf44_uc010eya.2_Missense_Mutation_p.K552R NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 552 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATAAGTTTCCTTTTCACTTTG 0.473 C2orf16 84226 broad.mit.edu 37 2 27805111 27805111 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:27805111T>C uc002rkz.3 + 1 5723 c.5672T>C c.(5671-5673)ATG>ACG p.M1891T ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1891 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CCCTCCGGGATGAGGCAAGGG 0.592 VIT 5212 broad.mit.edu 37 2 37041497 37041497 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:37041497G>T uc002rpl.2 + 16 2296 c.2075G>T c.(2074-2076)CGG>CTG p.R692L VIT_uc002rpm.2_Missense_Mutation_p.R670L|VIT_uc010ezv.2_Missense_Mutation_p.R648L|VIT_uc010ezw.2_Missense_Mutation_p.R649L NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 677 proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) TCACAGCCTCGGAACTGAATT 0.522 SLC8A1 6546 broad.mit.edu 37 2 40657163 40657163 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:40657163G>A uc002rrx.2 - 1 282 c.258C>T c.(256-258)GTC>GTT p.V86V SLC8A1_uc002rry.2_Silent_p.V86V|SLC8A1_uc002rrz.2_Silent_p.V86V|SLC8A1_uc002rsa.2_Silent_p.V86V|SLC8A1_uc002rsd.3_Silent_p.V86V|SLC8A1_uc002rsb.1_Silent_p.V86V|SLC8A1_uc010fan.1_Silent_p.V86V|SLC8A1_uc002rsc.1_Silent_p.V86V NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 86 Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GAAACATGTAGACCATGGCCA 0.403 PLEKHH2 130271 broad.mit.edu 37 2 43958705 43958705 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:43958705C>T uc010yny.1 + 19 2990 c.2907C>T c.(2905-2907)TCC>TCT p.S969S PLEKHH2_uc002rtf.3_Silent_p.S968S NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 969 MyTH4. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTCTACCTTCCGAAGCCCTGC 0.328 SIX3 6496 broad.mit.edu 37 2 45169750 45169750 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:45169750G>A uc002run.1 + 1 714 c.507G>A c.(505-507)TGG>TGA p.W169* NM_005413 NP_005404 O95343 SIX3_HUMAN SIX homeobox 3 169 visual perception nucleus 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AGGCCATGTGGCTCGAGGCGC 0.647 SERTAD2 9792 broad.mit.edu 37 2 64863063 64863063 + Nonstop_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:64863063A>C uc002sde.1 - 2 1240 c.943T>G c.(943-945)TAA>GAA p.*315E NM_014755 NP_055570 Q14140 SRTD2_HUMAN SERTA domain containing 2 315 negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus 0 CCTGGGTCTTAGGACCCAACA 0.552 ZNF638 27332 broad.mit.edu 37 2 71635329 71635329 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:71635329T>C uc002shx.2 + 20 3532 c.3213T>C c.(3211-3213)GGT>GGC p.G1071G ZNF638_uc010yqw.1_Silent_p.G650G|ZNF638_uc002shy.2_Silent_p.G1071G|ZNF638_uc002shz.2_Silent_p.G1071G|ZNF638_uc002sia.2_Silent_p.G1071G|ZNF638_uc002sib.1_Silent_p.G1071G|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Silent_p.G168G NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1071 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 AAAATATTGGTGACCATATGT 0.333 NAT8 9027 broad.mit.edu 37 2 73868171 73868171 + Missense_Mutation SNP C C G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:73868171C>G uc002sji.1 - 2 752 c.585G>C c.(583-585)AAG>AAC p.K195N NM_003960 NP_003951 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 195 N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity ovary(1) 1 ACTGGCCCGTCTTCTTGAAGC 0.542 MOBKL1B 55233 broad.mit.edu 37 2 74386330 74386330 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:74386330C>T uc002skh.3 - 5 655 c.461G>A c.(460-462)CGT>CAT p.R154H NM_018221 NP_060691 Q9H8S9 MOL1B_HUMAN Mob4B protein 154 hippo signaling cascade metal ion binding|protein binding 0 CCTGAACAGACGCTTTAGAAT 0.393 CAPG 822 broad.mit.edu 37 2 85628441 85628441 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:85628441C>T uc002spl.1 - 5 613 c.363G>A c.(361-363)GTG>GTA p.V121V CAPG_uc002spm.1_Silent_p.V121V|CAPG_uc010ysq.1_Silent_p.V121V|CAPG_uc010fgi.1_Silent_p.V121V|CAPG_uc010fgj.1_Silent_p.V15V NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 121 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 ATGCTGACTCCACACCACCTT 0.602 TMEM150A 129303 broad.mit.edu 37 2 85829045 85829045 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:85829045G>A uc002spw.1 - 1 748 c.27C>T c.(25-27)GTC>GTT p.V9V USP39_uc002sqb.2_5'Flank|TMEM150A_uc002spx.1_5'UTR|TMEM150A_uc002spz.1_5'UTR|TMEM150A_uc002sqa.1_5'UTR|TMEM150A_uc002spy.1_Silent_p.V9V NM_001031738 NP_001026908 Q86TG1 T150A_HUMAN transmembrane protein 150A isoform 1 9 integral to membrane|plasma membrane 0 CTGACAGGCTGACAGGCAGGA 0.612 SFTPB 6439 broad.mit.edu 37 2 85890528 85890528 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:85890528G>A uc002sqh.2 - 8 949 c.943C>T c.(943-945)CAG>TAG p.Q315* SFTPB_uc002sqi.2_Nonsense_Mutation_p.Q323*|SFTPB_uc002sqj.2_Nonsense_Mutation_p.Q315*|SFTPB_uc010ysw.1_5'Flank NM_198843 NP_942140 P07988 PSPB_HUMAN surfactant, pulmonary-associated protein B 315 Saposin B-type 3. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome ovary(1)|central_nervous_system(1) 2 GGTATGGCCTGCTCGCTGCTG 0.632 POLR1A 25885 broad.mit.edu 37 2 86305040 86305040 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:86305040G>A uc002sqs.2 - 11 1701 c.1322C>T c.(1321-1323)GCG>GTG p.A441V NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 441 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GACTGAGCGCGCAGCGTAGTC 0.353 VPS24 51652 broad.mit.edu 37 2 86756342 86756342 + Silent SNP G G T rs140980165 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:86756342G>T uc002srj.2 - 3 414 c.285C>A c.(283-285)CTC>CTA p.L95L VPS24_uc002srk.2_Silent_p.L29L|VPS24_uc002srl.2_Intron|VPS24_uc010ytl.1_Silent_p.L124L NM_016079 NP_057163 Q9Y3E7 CHMP3_HUMAN vacuolar protein sorting 24 isoform 1 95 Intramolecular interaction with C- terminus. cell cycle|cell division|cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1) 1 CAGCCTTACCGAGCTGGTTCT 0.468 ZNF514 84874 broad.mit.edu 37 2 95818899 95818899 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:95818899A>C uc002sue.1 - 3 474 c.100T>G c.(100-102)TTC>GTC p.F34V ZNF514_uc002sud.1_Missense_Mutation_p.F107V NM_032788 NP_116177 Q96K75 ZN514_HUMAN zinc finger protein 514 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGTTCCTGAAGTTCTCCAGC 0.532 PROM2 150696 broad.mit.edu 37 2 95947910 95947910 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:95947910C>T uc002suh.1 + 14 1797 c.1664C>T c.(1663-1665)GCG>GTG p.A555V PROM2_uc002sui.2_Missense_Mutation_p.A555V|PROM2_uc002suj.2_Missense_Mutation_p.A209V|PROM2_uc002suk.2_Missense_Mutation_p.A555V|PROM2_uc002sul.2_Missense_Mutation_p.A81V|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 555 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 GAAGGGGCAGCGCTCTGGACA 0.627 SNRNP200 23020 broad.mit.edu 37 2 96956091 96956091 + Silent SNP G G A rs138641050 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:96956091G>A uc002svu.2 - 20 2801 c.2715C>T c.(2713-2715)ATC>ATT p.I905I SNRNP200_uc002svw.1_5'Flank NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 905 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.I905I(1) ovary(5)|skin(4)|large_intestine(1) 10 TTCCTAGCACGATTTCTGCAT 0.512 ZAP70 7535 broad.mit.edu 37 2 98351166 98351166 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:98351166G>A uc002syd.1 + 9 1280 c.1073G>A c.(1072-1074)CGC>CAC p.R358H ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.R248H|ZAP70_uc002syf.1_Missense_Mutation_p.R51H NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 358 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 GGCGTGTACCGCATGCGCAAG 0.637 TSGA10 80705 broad.mit.edu 37 2 99721883 99721883 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:99721883G>A uc002szg.3 - 7 1026 c.398C>T c.(397-399)GCA>GTA p.A133V TSGA10_uc002szh.3_Missense_Mutation_p.A133V|TSGA10_uc002szi.3_Missense_Mutation_p.A133V|TSGA10_uc010fin.1_Missense_Mutation_p.A133V|TSGA10_uc010yvn.1_Missense_Mutation_p.A133V NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 133 spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 CTCATTAAATGCTGTCTCTTG 0.308 TBC1D8 11138 broad.mit.edu 37 2 101624428 101624428 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:101624428A>G uc010fiv.2 - 20 3409 c.3278T>C c.(3277-3279)CTG>CCG p.L1093P RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.3_Missense_Mutation_p.L850P NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 1093 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 CTGTTCAGTCAGAAGTGAAGC 0.433 GCC2 9648 broad.mit.edu 37 2 109088197 109088197 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:109088197T>C uc002tec.2 + 6 2566 c.2412T>C c.(2410-2412)CGT>CGC p.R804R GCC2_uc002ted.2_Silent_p.R703R NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 804 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 CTTTTCAGCGTGATGAAAAAG 0.378 RANBP2 5903 broad.mit.edu 37 2 109380502 109380502 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:109380502T>C uc002tem.3 + 20 3633 c.3507T>C c.(3505-3507)GGT>GGC p.G1169G NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1169 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 ATGATGACGGTCCTCACTTTG 0.438 CCDC93 54520 broad.mit.edu 37 2 118764370 118764370 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:118764370C>T uc002tlj.2 - 3 305 c.179G>A c.(178-180)TGT>TAT p.C60Y CCDC93_uc010fld.1_Missense_Mutation_p.C60Y NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 60 large_intestine(1)|ovary(1) 2 AGTGGTGATACACCAAGTCAT 0.348 GLI2 2736 broad.mit.edu 37 2 121747109 121747109 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:121747109C>T uc010flp.2 + 13 3649 c.3619C>T c.(3619-3621)CCC>TCC p.P1207S GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.P879S|GLI2_uc002tmu.3_Missense_Mutation_p.P862S NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1207 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) ACACCTGCAGCCCCGCAGCGG 0.667 R3HDM1 23518 broad.mit.edu 37 2 136481597 136481597 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:136481597G>A uc002tuo.2 + 26 3405 c.3035G>A c.(3034-3036)GGC>GAC p.G1012D R3HDM1_uc010fni.2_Missense_Mutation_p.G1011D|R3HDM1_uc002tup.2_Missense_Mutation_p.G957D|R3HDM1_uc010zbh.1_Missense_Mutation_p.G760D NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 1012 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) TTTAAAATTGGCGCCAAGATC 0.512 LCT 3938 broad.mit.edu 37 2 136566593 136566593 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:136566593G>A uc002tuu.1 - 8 3335 c.3324C>T c.(3322-3324)TAC>TAT p.Y1108Y NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1108 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) ATTTCTCATCGTACGTGTGAT 0.582 MCM6 4175 broad.mit.edu 37 2 136614442 136614442 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:136614442G>A uc002tuw.2 - 11 1558 c.1482C>T c.(1480-1482)AAC>AAT p.N494N NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 494 MCM. cell cycle checkpoint|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 MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) ACGTCCGGGCGTTCAGAGTAG 0.294 LRP1B 53353 broad.mit.edu 37 2 141130589 141130589 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:141130589T>G uc002tvj.1 - 69 11728 c.10756A>C c.(10756-10758)AGC>CGC p.S3586R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3586 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) GGCTCACAGCTTTTCTCATCT 0.368 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141272329 141272329 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:141272329G>T uc002tvj.1 - 51 9134 c.8162C>A c.(8161-8163)TCT>TAT p.S2721Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2721 Extracellular (Potential).|LDL-receptor class A 16. 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) TTGGTTCCAAGAGCAAGAAGA 0.303 TSP Lung(27;0.18) MBD5 55777 broad.mit.edu 37 2 149247765 149247765 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:149247765C>T uc002twm.3 + 12 4853 c.3865C>T c.(3865-3867)CAC>TAC p.H1289Y MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.H1289Y|MBD5_uc002two.2_Missense_Mutation_p.H547Y|MBD5_uc002twp.2_Missense_Mutation_p.H339Y NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1289 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) AAGATGTGCACACATAAATGG 0.428 RIF1 55183 broad.mit.edu 37 2 152320331 152320331 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:152320331G>T uc002txm.2 + 30 4427 c.4297G>T c.(4297-4299)GAT>TAT p.D1433Y RIF1_uc002txl.2_Missense_Mutation_p.D1433Y|RIF1_uc002txn.2_Missense_Mutation_p.D1433Y|RIF1_uc002txo.2_Missense_Mutation_p.D1433Y|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 1433 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TGAAAGCCAAGATAAGGAAAA 0.383 FMNL2 114793 broad.mit.edu 37 2 153471416 153471416 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:153471416C>A uc002tye.2 + 12 1481 c.1114C>A c.(1114-1116)CTG>ATG p.L372M NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN formin-like 2 372 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|ovary(1) 3 CCAGGCTTACCTGGACAATGT 0.428 RPRM 56475 broad.mit.edu 37 2 154334842 154334842 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:154334842G>A uc002tyq.1 - 1 481 c.238C>T c.(238-240)CTG>TTG p.L80L NM_019845 NP_062819 Q9NS64 RPRM_HUMAN reprimo, TP53 dependant G2 arrest mediator 80 cell cycle arrest cytoplasm|integral to membrane protein binding 0 TTGATGAGCAGATTGCAGCCG 0.607 GALNT13 114805 broad.mit.edu 37 2 155252628 155252628 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:155252628T>C uc002tyr.3 + 10 1849 c.1282T>C c.(1282-1284)TAC>CAC p.Y428H GALNT13_uc002tyt.3_Missense_Mutation_p.Y428H|GALNT13_uc010foc.1_Missense_Mutation_p.Y247H|GALNT13_uc010fod.2_Missense_Mutation_p.Y181H NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 428 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 AAGACGTTATTACTCACTTGG 0.338 TANC1 85461 broad.mit.edu 37 2 159922470 159922470 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:159922470C>T uc002uag.2 + 3 322 c.48C>T c.(46-48)GGC>GGT p.G16G TANC1_uc010fol.1_Silent_p.G16G|TANC1_uc010zcm.1_Silent_p.G16G|TANC1_uc010fom.1_Silent_p.G16G NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 16 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 GAAAGGGAGGCAAGAAGGAAG 0.488 TTC21B 79809 broad.mit.edu 37 2 166747442 166747442 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:166747442C>T uc002udk.2 - 23 3140 c.3007G>A c.(3007-3009)GAG>AAG p.E1003K TTC21B_uc002udj.1_RNA NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 1003 cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 GGGACATCCTCGAGTTTTCCA 0.348 SCN9A 6335 broad.mit.edu 37 2 167133718 167133718 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:167133718G>A uc010fpl.2 - 16 2957 c.2616C>T c.(2614-2616)GTC>GTT p.V872V uc002udp.2_RNA NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 883 II.|Helical; Name=S5 of repeat II; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GCTGCATGCCGACCACAGCAA 0.463 CHRNA1 1134 broad.mit.edu 37 2 175618367 175618367 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:175618367G>A uc002ujd.2 - 7 795 c.717C>T c.(715-717)CCC>CCT p.P239P uc002uiw.2_Intron|CHRNA1_uc002uje.2_Silent_p.P214P|CHRNA1_uc002ujf.3_Silent_p.P214P NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 239 Extracellular. muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 AGGGGGTGTCGGGGCAGCAGG 0.592 OSBPL6 114880 broad.mit.edu 37 2 179247806 179247806 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:179247806G>A uc002ulx.2 + 17 2055 c.1677G>A c.(1675-1677)CTG>CTA p.L559L OSBPL6_uc002uly.2_Silent_p.L584L|OSBPL6_uc010zfe.1_Silent_p.L528L|OSBPL6_uc002ulz.2_Silent_p.L523L|OSBPL6_uc002uma.2_Silent_p.L563L NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 559 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GAGCATGCCTGCCAGCTCCTT 0.493 TTN 7273 broad.mit.edu 37 2 179645895 179645895 + Missense_Mutation SNP C C T rs149883066 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:179645895C>T uc010zfg.1 - 21 3700 c.3476G>A c.(3475-3477)CGC>CAC p.R1159H TTN_uc010zfh.1_Missense_Mutation_p.R1113H|TTN_uc010zfi.1_Missense_Mutation_p.R1113H|TTN_uc010zfj.1_Missense_Mutation_p.R1113H|TTN_uc002unb.2_Missense_Mutation_p.R1159H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1159 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGCTTATTGCGAACAACAAT 0.388 WDR75 84128 broad.mit.edu 37 2 190320086 190320086 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:190320086A>G uc002uql.1 + 5 474 c.414A>G c.(412-414)TCA>TCG p.S138S WDR75_uc002uqm.1_Silent_p.S74S|WDR75_uc002uqn.1_5'UTR|WDR75_uc002uqo.1_5'Flank NM_032168 NP_115544 Q8IWA0 WDR75_HUMAN WD repeat domain 75 138 nucleolus ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) CAAAATCCTCAAGCCAGGAAG 0.388 WDR75 84128 broad.mit.edu 37 2 190329974 190329974 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:190329974C>T uc002uql.1 + 12 1343 c.1283C>T c.(1282-1284)ACA>ATA p.T428I WDR75_uc002uqm.1_Missense_Mutation_p.T364I|WDR75_uc002uqn.1_Missense_Mutation_p.T206I|WDR75_uc002uqo.1_Missense_Mutation_p.T206I NM_032168 NP_115544 Q8IWA0 WDR75_HUMAN WD repeat domain 75 428 nucleolus ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) AATAAGAAAACACAAGGGTAA 0.348 NAB1 4664 broad.mit.edu 37 2 191524622 191524622 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:191524622T>C uc002usb.2 + 4 1292 c.720T>C c.(718-720)GAT>GAC p.D240D NAB1_uc010fsc.2_Silent_p.D240D|NAB1_uc010fsd.2_Silent_p.D240D|NAB1_uc002usc.2_Silent_p.D240D|NAB1_uc010zgh.1_Silent_p.D240D NM_005966 NP_005957 Q13506 NAB1_HUMAN NGFI-A binding protein 1 240 NCD2. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) AGATGAACGATGATGATCCAC 0.418 SF3B1 23451 broad.mit.edu 37 2 198262811 198262811 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:198262811C>A uc002uue.2 - 22 3212 c.3164G>T c.(3163-3165)TGG>TTG p.W1055L NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 1055 HEAT 9. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) AATCCTCATCCACTCTCTTGC 0.333 BZW1 9689 broad.mit.edu 37 2 201681849 201681849 + Silent SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:201681849T>G uc010zhg.1 + 6 571 c.519T>G c.(517-519)GGT>GGG p.G173G BZW1_uc002uwc.2_Silent_p.G141G|BZW1_uc010zhh.1_Silent_p.G141G NM_014670 NP_055485 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding 0 TCTTGAAGGGTTTTTCAGAGT 0.373 WDR12 55759 broad.mit.edu 37 2 203745590 203745590 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:203745590C>T uc002uzl.2 - 13 2015 c.1265G>A c.(1264-1266)GGG>GAG p.G422E WDR12_uc010ftt.2_3'UTR NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN WD repeat domain 12 protein 422 Sufficient for nucleolar localization.|WD 7. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 CTTTCATGCCCCAACATGGGA 0.368 PIKFYVE 200576 broad.mit.edu 37 2 209198113 209198113 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:209198113T>C uc002vcz.2 + 24 4196 c.4038T>C c.(4036-4038)TAT>TAC p.Y1346Y PIKFYVE_uc002vcy.1_Silent_p.Y1290Y NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1346 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TTAGGTTTTATGGGCACCAGT 0.438 MAP2 4133 broad.mit.edu 37 2 210560646 210560646 + Missense_Mutation SNP G G A rs142649637 by1000genomes TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:210560646G>A uc002vde.1 + 7 4000 c.3752G>A c.(3751-3753)CGC>CAC p.R1251H MAP2_uc002vdc.1_Missense_Mutation_p.R1251H|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1247H NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1251 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CTGCTCTTCCGCTCAGACACC 0.488 ERBB4 2066 broad.mit.edu 37 2 212251610 212251610 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:212251610T>C uc002veg.1 - 27 3547 c.3449A>G c.(3448-3450)TAC>TGC p.Y1150C ERBB4_uc002veh.1_Missense_Mutation_p.Y1134C|ERBB4_uc010zji.1_Missense_Mutation_p.Y1140C|ERBB4_uc010zjj.1_Missense_Mutation_p.Y1124C NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1150 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AGGAGTCATGTAACCTTCCTC 0.498 TSP Lung(8;0.080) ABCA12 26154 broad.mit.edu 37 2 215823125 215823125 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:215823125G>A uc002vew.2 - 41 6213 c.5993C>T c.(5992-5994)TCT>TTT p.S1998F ABCA12_uc002vev.2_Missense_Mutation_p.S1680F|ABCA12_uc010zjn.1_Missense_Mutation_p.S925F NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1998 Helical; (Potential). cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGTGGTGACAGAGTAGCCCAT 0.438 FN1 2335 broad.mit.edu 37 2 216236932 216236932 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:216236932C>A uc002vfa.2 - 40 6680 c.6414G>T c.(6412-6414)GGG>GGT p.G2138G FN1_uc002vfb.2_Silent_p.G1957G|FN1_uc002vfc.2_Silent_p.G1932G|FN1_uc002vfd.2_Silent_p.G2113G|FN1_uc002vfe.2_Silent_p.G2047G|FN1_uc002vff.2_Silent_p.G2022G|FN1_uc002vfg.2_Silent_p.G1957G|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Silent_p.G2138G|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_Silent_p.G332G|FN1_uc010zjp.1_Silent_p.G675G|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Intron|FN1_uc010fvd.1_Silent_p.G229G NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 2047 Connecting strand 3 (CS-3) (V region). acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCATTTGTTGCCCAACACTGG 0.532 FN1 2335 broad.mit.edu 37 2 216249629 216249629 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:216249629A>G uc002vfa.2 - 29 4949 c.4683T>C c.(4681-4683)GCT>GCC p.A1561A FN1_uc002vfb.2_Silent_p.A1470A|FN1_uc002vfc.2_Silent_p.A1470A|FN1_uc002vfd.2_Silent_p.A1561A|FN1_uc002vfe.2_Silent_p.A1470A|FN1_uc002vff.2_Silent_p.A1470A|FN1_uc002vfg.2_Silent_p.A1470A|FN1_uc002vfh.2_Silent_p.A1470A|FN1_uc002vfi.2_Silent_p.A1561A|FN1_uc002vfj.2_Silent_p.A1561A|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Silent_p.A188A|FN1_uc010fvc.1_5'Flank|FN1_uc010fvd.1_5'Flank NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGACAGCAGGAGCATCCCAGC 0.448 TMEM169 92691 broad.mit.edu 37 2 216960851 216960851 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:216960851C>T uc010zjr.1 + 3 491 c.165C>T c.(163-165)TAC>TAT p.Y55Y TMEM169_uc010zjs.1_Silent_p.Y55Y|TMEM169_uc002vfw.2_Silent_p.Y55Y|TMEM169_uc002vfv.3_Silent_p.Y55Y NM_001142310 NP_001135782 Q96HH4 TM169_HUMAN transmembrane protein 169 55 Extracellular (Potential). integral to membrane ovary(1) 1 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCATCATCTACCGCTCAGACA 0.527 XRCC5 7520 broad.mit.edu 37 2 216992311 216992311 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:216992311T>A uc002vfy.2 + 8 991 c.851T>A c.(850-852)CTA>CAA p.L284Q XRCC5_uc002vfz.2_Missense_Mutation_p.L170Q NM_021141 NP_066964 P13010 XRCC5_HUMAN ATP-dependent DNA helicase II 284 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding lung(1)|kidney(1) 2 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) GCAAAAACCCTAAAAAAAGAA 0.313 Direct_reversal_of_damage|NHEJ NHEJ1 79840 broad.mit.edu 37 2 219941148 219941148 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:219941148C>T uc002vjp.3 - 8 1001 c.855G>A c.(853-855)CAG>CAA p.Q285Q NHEJ1_uc002vjq.3_RNA NM_024782 NP_079058 Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 285 B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding lung(1) 1 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) CCTTTGACAGCTGAGGTCTCT 0.468 Direct_reversal_of_damage|NHEJ PAX3 5077 broad.mit.edu 37 2 223086050 223086050 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:223086050C>T uc010fwo.2 - 6 1215 c.849G>A c.(847-849)CTG>CTA p.L283L PAX3_uc002vmt.1_Silent_p.L283L|PAX3_uc002vmy.1_Silent_p.L282L|PAX3_uc002vmv.1_Silent_p.L283L|PAX3_uc002vmw.1_Silent_p.L283L|PAX3_uc002vmx.1_Silent_p.L283L NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 283 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAAAGCCATCAGTTGATTGG 0.493 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome ARMC9 80210 broad.mit.edu 37 2 232156155 232156155 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:232156155C>T uc002vrq.3 + 18 1828 c.1716C>T c.(1714-1716)TCC>TCT p.S572S ARMC9_uc002vrp.3_Silent_p.S572S|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 572 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) AGCTAAATTCCGGTCAGTTTG 0.378 ECEL1 9427 broad.mit.edu 37 2 233348873 233348873 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:233348873C>T uc002vsv.2 - 7 1450 c.1245G>A c.(1243-1245)CCG>CCA p.P415P ECEL1_uc010fya.1_Silent_p.P415P|ECEL1_uc010fyb.1_Silent_p.P122P NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 415 Lumenal (Potential). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity p.P415L(1) central_nervous_system(2) 2 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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CACGGAATGGCGGGGACAGGT 0.647 AGAP1 116987 broad.mit.edu 37 2 236817445 236817445 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:236817445G>A uc002vvs.2 + 11 1814 c.1219G>A c.(1219-1221)GGG>AGG p.G407R AGAP1_uc002vvt.2_Missense_Mutation_p.G407R NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 407 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 GAAAGTCCCAGGGAAGAGGCC 0.473 COL6A3 1293 broad.mit.edu 37 2 238262045 238262045 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:238262045C>T uc002vwl.2 - 25 6914 c.6629G>A c.(6628-6630)GGC>GAC p.G2210D COL6A3_uc002vwo.2_Missense_Mutation_p.G2004D|COL6A3_uc010znj.1_Missense_Mutation_p.G1603D|COL6A3_uc002vwp.1_Missense_Mutation_p.G31D NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2210 Triple-helical region.|Collagen-like 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCCCTTGTTGCCCTTTGAAAT 0.547 LRRFIP1 9208 broad.mit.edu 37 2 238668757 238668757 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:238668757C>T uc002vxe.2 + 10 1090 c.798C>T c.(796-798)TCC>TCT p.S266S LRRFIP1_uc002vxc.2_Silent_p.S456S|LRRFIP1_uc010znm.1_Silent_p.S210S|LRRFIP1_uc002vxd.2_Silent_p.S242S|LRRFIP1_uc002vxf.2_Silent_p.S210S NM_001137552 NP_001131024 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting 266 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding breast(3) 3 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) GAGAGACTTCCGACACCCTCA 0.398 PER2 8864 broad.mit.edu 37 2 239162026 239162026 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:239162026C>T uc002vyc.2 - 19 2875 c.2638G>A c.(2638-2640)GCT>ACT p.A880T PER2_uc010znv.1_Missense_Mutation_p.A880T NM_022817 NP_073728 O15055 PER2_HUMAN period 2 880 Pro-rich. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) ACGGGCACAGCAGGCACTGTG 0.632 MYEOV2 150678 broad.mit.edu 37 2 241066248 241066248 + Missense_Mutation SNP G G A rs137993079 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:241066248G>A uc002vyu.1 - 5 491 c.491C>T c.(490-492)CCG>CTG p.P164L NM_138336 NP_612209 Q8WXC6 MYOV2_HUMAN hypothetical protein LOC150678 isoform 1 Error:Variant_position_missing_in_Q8WXC6_after_alignment 0 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) GCCACACAGCGGATGTTCTCT 0.532 TMC2 117532 broad.mit.edu 37 20 2593878 2593878 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:2593878G>A uc002wgf.1 + 14 1797 c.1782G>A c.(1780-1782)ACG>ACA p.T594T TMC2_uc002wgg.1_Silent_p.T578T|TMC2_uc010zpw.1_Silent_p.T426T|TMC2_uc010zpx.1_Silent_p.T425T NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 594 Cytoplasmic (Potential). integral to membrane ovary(3) 3 TGCTGGTAACGTACATCACCA 0.557 ISM1 140862 broad.mit.edu 37 20 13273089 13273089 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:13273089G>A uc010gce.1 + 5 862 c.856G>A c.(856-858)GCC>ACC p.A286T TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 286 extracellular region 0 GGAGTTTAATGCCACCAAACT 0.408 SEL1L2 80343 broad.mit.edu 37 20 13971151 13971151 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:13971151T>C uc010gcf.2 - 1 112 c.30A>G c.(28-30)ATA>ATG p.I10M SEL1L2_uc002woq.3_Translation_Start_Site|SEL1L2_uc010zrl.1_Missense_Mutation_p.I10M|SEL1L2_uc002wor.2_Intron NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 10 integral to membrane binding ovary(2) 2 GAATTATCAATATCTCTATTA 0.423 MACROD2 140733 broad.mit.edu 37 20 13976403 13976403 + Translation_Start_Site SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:13976403C>T uc002wou.2 + 1 258 c.-6C>T c.(-8--4)CACGG>CATGG MACROD2_uc002wot.2_Translation_Start_Site|SEL1L2_uc002wor.2_5'Flank|MACROD2_uc002wos.2_RNA NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) GCCACCCCCACGGCAACATGT 0.443 PCSK2 5126 broad.mit.edu 37 20 17462302 17462302 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:17462302C>T uc002wpm.2 + 12 1824 c.1504C>T c.(1504-1506)CGC>TGC p.R502C PCSK2_uc002wpl.2_Missense_Mutation_p.R483C|PCSK2_uc010zrm.1_Missense_Mutation_p.R467C|PCSK2_uc002wpn.2_Missense_Mutation_p.R156C NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 502 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAATTTTGTCCGCTACCTGGA 0.517 SNX5 27131 broad.mit.edu 37 20 17937586 17937586 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:17937586C>T uc002wqc.2 - 2 233 c.147G>A c.(145-147)GTG>GTA p.V49V SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.V49V|SNX5_uc002wqe.2_5'UTR|SNX5_uc010zrt.1_Silent_p.V49V NM_014426 NP_055241 Q9Y5X3 SNX5_HUMAN sorting nexin 5 49 PX. cell communication|pinocytosis|protein transport cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle phosphatidylinositol binding large_intestine(1) 1 CCTTTGTGTGCACTGTAAATT 0.438 C20orf72 92667 broad.mit.edu 37 20 17956339 17956339 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:17956339A>G uc002wqh.2 + 3 606 c.524A>G c.(523-525)CAA>CGA p.Q175R C20orf72_uc010gco.2_Intron|C20orf72_uc010gcp.2_RNA NM_052865 NP_443097 Q9BQP7 CT072_HUMAN hypothetical protein LOC92667 175 0 GTCTTTTTACAAGGGAAACGG 0.408 RALGAPA2 57186 broad.mit.edu 37 20 20493316 20493316 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:20493316C>T uc002wrz.2 - 32 4840 c.4697G>A c.(4696-4698)CGC>CAC p.R1566H RALGAPA2_uc010gcx.2_Missense_Mutation_p.R1270H|RALGAPA2_uc010zsg.1_Missense_Mutation_p.R1014H|RALGAPA2_uc002wsa.1_Missense_Mutation_p.R338H NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1566 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 AGCATTTTGGCGCAAAATGAC 0.473 GGTLC1 92086 broad.mit.edu 37 20 23965921 23965921 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:23965921C>T uc002wts.2 - 6 743 c.610G>A c.(610-612)GTC>ATC p.V204I GGTLC1_uc002wtu.2_Missense_Mutation_p.V204I NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 204 gamma-glutamyltransferase activity ovary(1) 1 GCCATGCGGACGATGGCTTGC 0.622 HCK 3055 broad.mit.edu 37 20 30659469 30659469 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:30659469G>A uc002wxh.2 + 2 238 c.67G>A c.(67-69)GGG>AGG p.G23R HCK_uc010gdy.2_Missense_Mutation_p.G2R|HCK_uc002wxi.2_Missense_Mutation_p.G2R NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 23 G->A: Myristoylation and palmitoylation are abolished, cytoplasmic and no calveolar localization; in isoform p59- HCK. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTGCAGGATGGGGTGCATGAA 0.587 KIAA0406 9675 broad.mit.edu 37 20 36640099 36640099 + Missense_Mutation SNP C C T rs141770247 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:36640099C>T uc002xhl.2 - 3 2329 c.2120G>A c.(2119-2121)CGT>CAT p.R707H KIAA0406_uc002xhm.2_Missense_Mutation_p.R707H NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 707 binding 0 Myeloproliferative disorder(115;0.00874) AGCCAGATGACGCAGATTTAA 0.483 LPIN3 64900 broad.mit.edu 37 20 39986566 39986566 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:39986566T>C uc002xjx.2 + 17 2175 c.2084T>C c.(2083-2085)ATG>ACG p.M695T LPIN3_uc010ggh.2_Missense_Mutation_p.M696T|LPIN3_uc010zwf.1_RNA NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN lipin 3 695 C-LIP. fatty acid metabolic process nucleus phosphatidate phosphatase activity ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(115;0.000739) GCCATTGGCATGGCGGACCTC 0.632 CHD6 84181 broad.mit.edu 37 20 40033290 40033290 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:40033290T>C uc002xka.1 - 37 8269 c.8091A>G c.(8089-8091)GAA>GAG p.E2697E CHD6_uc002xjz.1_Silent_p.E234E NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2697 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GTGCCCCATGTTCTCTCTCTG 0.522 PTPRT 11122 broad.mit.edu 37 20 40727077 40727077 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:40727077T>A uc002xkg.2 - 27 4014 c.3830A>T c.(3829-3831)GAG>GTG p.E1277V PTPRT_uc010ggj.2_Missense_Mutation_p.E1296V|PTPRT_uc010ggi.2_Missense_Mutation_p.E480V NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1277 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGTGTCCATCTCATTCAGCAT 0.607 PTPRT 11122 broad.mit.edu 37 20 40735471 40735471 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:40735471G>A uc002xkg.2 - 24 3529 c.3345C>T c.(3343-3345)TGC>TGT p.C1115C PTPRT_uc010ggj.2_Silent_p.C1134C|PTPRT_uc010ggi.2_Silent_p.C318C NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1115 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCTCACGCACGCAGTTGAAGA 0.582 SERINC3 10955 broad.mit.edu 37 20 43138579 43138579 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:43138579G>A uc002xme.2 - 5 700 c.566C>T c.(565-567)TCA>TTA p.S189L SERINC3_uc002xmf.1_Missense_Mutation_p.S189L|SERINC3_uc010ggs.1_Missense_Mutation_p.S182L|SERINC3_uc010zwp.1_Missense_Mutation_p.S134L NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 189 Cytoplasmic (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) ATTTACCCATGATTCATTCCA 0.458 ADA 100 broad.mit.edu 37 20 43248966 43248966 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:43248966T>C uc002xmj.2 - 11 1180 c.1052A>G c.(1051-1053)TAT>TGT p.Y351C ADA_uc010ggt.2_RNA NM_000022 NP_000013 P00813 ADA_HUMAN adenosine deaminase 351 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding pancreas(2)|ovary(1) 3 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) TGGCATCCCATAGGCTTTATA 0.537 Adenosine_Deaminase_Deficiency PREX1 57580 broad.mit.edu 37 20 47266542 47266542 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:47266542G>A uc002xtw.1 - 24 3043 c.3020C>T c.(3019-3021)CCG>CTG p.P1007L PREX1_uc002xtv.1_Missense_Mutation_p.P304L NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1007 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ACCTTGCTCCGGGTCAAGGCC 0.448 ZNFX1 57169 broad.mit.edu 37 20 47879934 47879934 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:47879934T>C uc002xui.2 - 6 2485 c.2238A>G c.(2236-2238)GAA>GAG p.E746E NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 746 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCAGGTACTGTTCCCGTAGGA 0.522 SPATA2 9825 broad.mit.edu 37 20 48523040 48523040 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:48523040G>A uc010gie.2 - 3 1029 c.679C>T c.(679-681)CGA>TGA p.R227* SPATA2_uc002xuw.2_Nonsense_Mutation_p.R227*|SPATA2_uc010zyn.1_Nonsense_Mutation_p.R90* NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 227 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) AGTGCCACTCGTGACATGGAG 0.672 SNAI1 6615 broad.mit.edu 37 20 48600381 48600381 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:48600381T>A uc002xuz.2 + 2 173 c.103T>A c.(103-105)TAC>AAC p.Y35N NM_005985 NP_005976 O95863 SNAI1_HUMAN snail 1 homolog 35 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CCAGCAGCCCTACGACCAGGC 0.582 FAM65C 140876 broad.mit.edu 37 20 49219090 49219090 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:49219090C>T uc002xvm.2 - 13 1484 c.1166G>A c.(1165-1167)CGG>CAG p.R389Q FAM65C_uc010zyt.1_Missense_Mutation_p.R393Q|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.R389Q NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 389 ovary(2) 2 GCTGGGACCCCGGAGGTCGCT 0.637 NFATC2 4773 broad.mit.edu 37 20 50133334 50133334 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:50133334G>A uc002xwd.2 - 3 1541 c.1321C>T c.(1321-1323)CCT>TCT p.P441S NFATC2_uc002xwc.2_Missense_Mutation_p.P441S|NFATC2_uc010zyv.1_Missense_Mutation_p.P222S|NFATC2_uc010zyw.1_Missense_Mutation_p.P222S|NFATC2_uc010zyx.1_Missense_Mutation_p.P421S|NFATC2_uc010zyy.1_Missense_Mutation_p.P222S|NFATC2_uc010zyz.1_Missense_Mutation_p.P222S|NFATC2_uc002xwe.2_Missense_Mutation_p.P421S NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 441 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) TGAACCACAGGGTGGCCTCCA 0.532 CDH26 60437 broad.mit.edu 37 20 58567530 58567530 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:58567530G>A uc002ybe.2 + 10 1681 c.1381G>A c.(1381-1383)GTA>ATA p.V461I CDH26_uc002ybf.1_Missense_Mutation_p.V41I|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_5'Flank NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 461 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) ATCCCCTCATGTAAATAACAG 0.428 CDH4 1002 broad.mit.edu 37 20 60448951 60448951 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:60448951C>T uc002ybn.1 + 7 1059 c.1045C>T c.(1045-1047)CGA>TGA p.R349* CDH4_uc002ybp.1_Nonsense_Mutation_p.R275* NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 349 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) TGGCCTGGACCGAGAGGTGAG 0.662 LAMA5 3911 broad.mit.edu 37 20 60888776 60888776 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:60888776C>T uc002ycq.2 - 63 8654 c.8587G>A c.(8587-8589)GCA>ACA p.A2863T NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2863 Laminin G-like 1. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCCCCTCTGCCCCAGGGGCC 0.617 ZNF512B 57473 broad.mit.edu 37 20 62595544 62595544 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:62595544G>A uc002yhl.1 - 8 1414 c.1360C>T c.(1360-1362)CGA>TGA p.R454* NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CGGTGAACTCGGGCCTTGTCC 0.657 LIPI 149998 broad.mit.edu 37 21 15561475 15561475 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:15561475T>G uc002yjm.2 - 2 385 c.375A>C c.(373-375)GAA>GAC p.E125D LIPI_uc010gkw.1_Missense_Mutation_p.E58D NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 104 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) CATTCATATCTTCTTCATTCA 0.393 TMPRSS15 5651 broad.mit.edu 37 21 19770545 19770545 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:19770545T>C uc002ykw.2 - 2 278 c.247A>G c.(247-249)AAA>GAA p.K83E NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 83 Extracellular (Potential).|SEA. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 GCAAGAACTTTGAAATCCACT 0.378 RNF160 26046 broad.mit.edu 37 21 30329691 30329691 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:30329691C>T uc002ymr.2 - 15 3006 c.2993G>A c.(2992-2994)AGT>AAT p.S998N NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 952 ligase activity|zinc ion binding 0 TTCCCATTCACTGTCGTTCGG 0.378 CLDN17 26285 broad.mit.edu 37 21 31538770 31538770 + Nonsense_Mutation SNP G G A rs148594408 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:31538770G>A uc011acv.1 - 1 166 c.166C>T c.(166-168)CGA>TGA p.R56* NM_012131 NP_036263 P56750 CLD17_HUMAN claudin 17 56 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity ovary(2) 2 CTGGCTTGTCGGATGCAATTC 0.547 KRTAP19-1 337882 broad.mit.edu 37 21 31852407 31852407 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:31852407C>T uc011acx.1 - 1 230 c.230G>A c.(229-231)CGC>CAC p.R77H NM_181607 NP_853638 Q8IUB9 KR191_HUMAN keratin associated protein 19-1 77 26 X 2 AA repeats of G-[YCGS]. intermediate filament 0 GTACGATGGGCGGCAGCAGCC 0.488 IFNGR2 3460 broad.mit.edu 37 21 34809262 34809262 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:34809262C>T uc002yrp.3 + 7 1655 c.1007C>T c.(1006-1008)ACG>ATG p.T336M IFNGR2_uc002yrq.3_Missense_Mutation_p.T355M|IFNGR2_uc010gma.2_Missense_Mutation_p.T257M|IFNGR2_uc002yrr.3_Missense_Mutation_p.T257M|TMEM50B_uc002yrs.1_Intron NM_005534 NP_005525 P38484 INGR2_HUMAN interferon gamma receptor 2 precursor 336 Cytoplasmic (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity 0 Interferon gamma-1b(DB00033) GTTCTCCAAACGCTTTGAACC 0.507 RUNX1 861 broad.mit.edu 37 21 36171728 36171728 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:36171728C>T uc002yuh.2 - 5 2334 c.756G>A c.(754-756)TGG>TGA p.W252* RUNX1_uc002yui.2_Nonsense_Mutation_p.W188*|RUNX1_uc010gmu.2_Nonsense_Mutation_p.W279*|RUNX1_uc010gmv.2_Nonsense_Mutation_p.W279*|RUNX1_uc002yuj.3_Nonsense_Mutation_p.W147*|RUNX1_uc002yuk.3_Nonsense_Mutation_p.W279*|RUNX1_uc002yul.1_Nonsense_Mutation_p.W44*|RUNX1_uc002yum.1_Nonsense_Mutation_p.W83* NM_001001890 NP_001001890 Q01196 RUNX1_HUMAN runt-related transcription factor 1 isoform 252 Pro/Ser/Thr-rich. Missing: No DNA-binding. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus|nucleus ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1) 387 GATCGTAGGACCACGGTGGGG 0.478 T RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4 AML|preB- ALL|T-ALL Platelet_disorder_associated_with_Myeloid_Malignancies FAM3B 54097 broad.mit.edu 37 21 42694964 42694964 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:42694964G>A uc002yzb.1 + 2 280 c.134G>A c.(133-135)CGC>CAC p.R45H FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Intron|FAM3B_uc002yzd.1_Missense_Mutation_p.R68H|FAM3B_uc011aeq.1_Missense_Mutation_p.R59H NM_058186 NP_478066 P58499 FAM3B_HUMAN family with sequence similarity 3, member B 45 apoptosis|insulin secretion extracellular space cytokine activity 0 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) TATAGCATCCGCAGCATCGGG 0.597 RIPK4 54101 broad.mit.edu 37 21 43161902 43161902 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:43161902C>T uc002yzn.1 - 8 1499 c.1451G>A c.(1450-1452)CGG>CAG p.R484Q NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 484 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 CACGACACCCCGCACCCTCCT 0.637 ZNF295 49854 broad.mit.edu 37 21 43411221 43411221 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:43411221T>C uc002zab.3 - 3 3198 c.2984A>G c.(2983-2985)AAG>AGG p.K995R ZNF295_uc002yzz.3_Missense_Mutation_p.K794R|ZNF295_uc002yzy.3_Missense_Mutation_p.K995R|ZNF295_uc002zaa.3_Missense_Mutation_p.K995R NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 995 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 AGGCTGGATCTTGGGCAGTGG 0.562 UMODL1 89766 broad.mit.edu 37 21 43504209 43504209 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:43504209G>T uc002zaf.1 + 3 335 c.335G>T c.(334-336)GGG>GTG p.G112V UMODL1_uc002zad.1_Missense_Mutation_p.G40V|UMODL1_uc002zae.1_Missense_Mutation_p.G40V|UMODL1_uc002zag.1_Missense_Mutation_p.G112V|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 112 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 AATCAGTCCGGGCAGTTCACG 0.557 ITGB2 3689 broad.mit.edu 37 21 46326963 46326963 + Silent SNP C C T rs149429459 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:46326963C>T uc002zgd.2 - 3 239 c.195G>A c.(193-195)CGG>CGA p.R65R ITGB2_uc002zge.2_Silent_p.R65R|ITGB2_uc002zgf.3_Silent_p.R65R|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Silent_p.R65R|ITGB2_uc002zgg.2_Silent_p.R65R NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 65 Extracellular (Potential). apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) GCAGCTGTGGCCGGGTGTCGC 0.652 MCM3AP 8888 broad.mit.edu 37 21 47680751 47680751 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:47680751G>A uc002zir.1 - 15 3573 c.3537C>T c.(3535-3537)CGC>CGT p.R1179R MCM3AP_uc002zip.1_5'Flank|MCM3AP_uc002ziq.1_Silent_p.R106R NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1179 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) CCATCATCACGCGTTCCATCA 0.522 CCT8L2 150160 broad.mit.edu 37 22 17073106 17073106 + Missense_Mutation SNP G G A rs147878859 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:17073106G>A uc002zlp.1 - 1 595 c.335C>T c.(334-336)ACG>ATG p.T112M NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 112 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CAAGGCTTCCGTCAGCAGAAC 0.667 SMARCB1 6598 broad.mit.edu 37 22 24135750 24135750 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:24135750C>T uc002zyb.2 + 3 444 c.237C>T c.(235-237)CAC>CAT p.H79H SMARCB1_uc002zyg.2_Silent_p.H79H|SMARCB1_uc011ajb.1_Silent_p.H70H|SMARCB1_uc002zya.2_Silent_p.H79H|SMARCB1_uc002zyc.2_Silent_p.H70H|SMARCB1_uc002zyd.2_Silent_p.H70H|SMARCB1_uc002zye.1_Silent_p.H42H|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron NM_003073 NP_003064 Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin 79 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(2) soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1) 407 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) TTACAGATCACGGATACACGA 0.537 D|N|F|S malignant rhabdoid malignant rhabdoid Rhabdoid_Predisposition_syndrome|Schwannomatosis SMARCB1 6598 broad.mit.edu 37 22 24145518 24145518 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:24145518C>T uc002zyb.2 + 5 744 c.537C>T c.(535-537)AAC>AAT p.N179N SMARCB1_uc002zya.2_Silent_p.N179N|SMARCB1_uc002zyc.2_Silent_p.N170N|SMARCB1_uc002zyd.2_Silent_p.N188N|SMARCB1_uc002zye.1_Silent_p.N105N|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_RNA NM_003073 NP_003064 Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin 179 DNA-binding (Potential). cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(5) soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1) 407 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) TCCATGAGAACGCATCTCAGC 0.552 D|N|F|S malignant rhabdoid malignant rhabdoid Rhabdoid_Predisposition_syndrome|Schwannomatosis PIWIL3 440822 broad.mit.edu 37 22 25151789 25151789 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:25151789C>T uc003abd.1 - 6 1071 c.654G>A c.(652-654)TCG>TCA p.S218S PIWIL3_uc011ajx.1_Silent_p.S109S|PIWIL3_uc011ajy.1_Silent_p.S109S|PIWIL3_uc010gut.1_Silent_p.S218S NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 218 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 GGCAATCTGGCGACGTGGGCG 0.403 MN1 4330 broad.mit.edu 37 22 28193441 28193441 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:28193441C>T uc003adj.2 - 1 4046 c.3091G>A c.(3091-3093)GGG>AGG p.G1031R NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1031 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 GACTTGGCCCCGCCGTCCAGG 0.647 T ETV6 AML|meningioma MTMR3 8897 broad.mit.edu 37 22 30418067 30418067 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:30418067G>A uc003agv.3 + 18 3603 c.3275G>A c.(3274-3276)CGC>CAC p.R1092H MTMR3_uc003agu.3_Intron|MTMR3_uc003agw.3_Intron NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 1092 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TGTTTGTCTCGCTGCAGCACA 0.498 SMTN 6525 broad.mit.edu 37 22 31495882 31495882 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:31495882A>G uc003ajl.1 + 19 2821 c.2603A>G c.(2602-2604)GAG>GGG p.E868G SMTN_uc003ajk.1_Missense_Mutation_p.E868G|SMTN_uc003ajm.1_Missense_Mutation_p.E868G|SMTN_uc011ale.1_Missense_Mutation_p.E953G|SMTN_uc011alf.1_Missense_Mutation_p.E924G|SMTN_uc003ajn.1_Missense_Mutation_p.E891G|SMTN_uc011alg.1_Missense_Mutation_p.E324G|SMTN_uc003ajo.1_Missense_Mutation_p.E391G|SMTN_uc010gwe.1_Missense_Mutation_p.E248G|SMTN_uc003ajp.1_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 868 CH. muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 TCATCTGCGGAGTAAGTGTGG 0.617 C1QTNF6 114904 broad.mit.edu 37 22 37578581 37578581 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:37578581T>C uc003aqw.1 - 2 932 c.427A>G c.(427-429)ACG>GCG p.T143A C1QTNF6_uc003aqx.1_Missense_Mutation_p.T162A|C1QTNF6_uc003aqy.1_Missense_Mutation_p.T162A|C1QTNF6_uc003aqz.1_RNA NM_182486 NP_872292 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 143 C1q. collagen 0 AAGAGCAGCGTCTGGAAGTCC 0.627 TRIOBP 11078 broad.mit.edu 37 22 38119208 38119208 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:38119208C>T uc003atr.2 + 7 916 c.645C>T c.(643-645)GGC>GGT p.G215G TRIOBP_uc003atu.2_Silent_p.G43G|TRIOBP_uc003atq.1_Silent_p.G215G|TRIOBP_uc003ats.1_Silent_p.G43G NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 215 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GCGGTGGGGGCCGGAGCGCAG 0.617 TRIOBP 11078 broad.mit.edu 37 22 38122069 38122069 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:38122069G>A uc003atr.2 + 7 3777 c.3506G>A c.(3505-3507)CGG>CAG p.R1169Q TRIOBP_uc003atu.2_Missense_Mutation_p.R997Q|TRIOBP_uc003atq.1_Missense_Mutation_p.R1169Q|TRIOBP_uc003ats.1_Missense_Mutation_p.R997Q NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1169 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) ATTGGGCACCGGGATGCACCC 0.637 GCAT 23464 broad.mit.edu 37 22 38211178 38211178 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:38211178G>A uc003atz.2 + 5 642 c.622G>A c.(622-624)GAT>AAT p.D208N GCAT_uc003aua.1_Missense_Mutation_p.D234N NM_014291 NP_055106 O75600 KBL_HUMAN glycine C-acetyltransferase precursor 208 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups 0 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTTTTCCATGGATGGCGACAT 0.597 MCHR1 2847 broad.mit.edu 37 22 41076969 41076969 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:41076969G>A uc003ayz.2 + 2 574 c.306G>A c.(304-306)ACG>ACA p.T102T MCHR1_uc003aza.2_5'UTR NM_005297 NP_005288 Q99705 MCHR1_HUMAN G protein-coupled receptor 24 102 Extracellular (Potential). elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity 0 CTCCTCGCACGGGGAGCATCT 0.572 EP300 2033 broad.mit.edu 37 22 41527639 41527639 + Splice_Site SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:41527639T>C uc003azl.3 + 6 1923 c.1528_splice c.e6+2 p.S510_splice NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 GCAACATGAGTAAGTTTGTGT 0.438 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome SREBF2 6721 broad.mit.edu 37 22 42276824 42276824 + Silent SNP C C T rs141892188 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:42276824C>T uc003bbi.2 + 10 2035 c.1866C>T c.(1864-1866)AAC>AAT p.N622N WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA NM_004599 NP_004590 Q12772 SRBP2_HUMAN sterol regulatory element-binding transcription 622 Cytoplasmic (Potential). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding breast(2)|ovary(1)|central_nervous_system(1) 4 TCTCCTGGAACGTGATCCGCT 0.642 EFCAB6 64800 broad.mit.edu 37 22 44028036 44028036 + Silent SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:44028036G>T uc003bdy.1 - 19 2396 c.2181C>A c.(2179-2181)ACC>ACA p.T727T EFCAB6_uc003bdz.1_Silent_p.T575T|EFCAB6_uc010gzi.1_Silent_p.T575T|EFCAB6_uc010gzj.1_Silent_p.T25T|EFCAB6_uc010gzk.1_RNA NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 727 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) ATTCTTCTGCGGTGATAAAGT 0.537 ALG12 79087 broad.mit.edu 37 22 50301525 50301525 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:50301525A>G uc003biy.2 - 7 1110 c.836T>C c.(835-837)ATC>ACC p.I279T NM_024105 NP_077010 Q9BV10 ALG12_HUMAN alpha-1,6-mannosyltransferase ALG12 279 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane 0 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) GCCCAGGGGGATGAAGAGCAG 0.652 CPT1B 1375 broad.mit.edu 37 22 51015369 51015369 + Missense_Mutation SNP G G C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:51015369G>C uc003bmk.3 - 3 538 c.376C>G c.(376-378)CAA>GAA p.Q126E CPT1B_uc003bml.2_Missense_Mutation_p.Q126E|CPT1B_uc003bmm.2_Missense_Mutation_p.Q126E|CPT1B_uc003bmo.2_Missense_Mutation_p.Q126E|CPT1B_uc011asa.1_Missense_Mutation_p.Q126E|CPT1B_uc003bmn.2_Missense_Mutation_p.Q126E|CPT1B_uc011asb.1_Missense_Mutation_p.Q126E|CHKB-CPT1B_uc003bmp.2_5'UTR NM_001145137 NP_001138609 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B isoform a 126 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) TTCAGGGTTTGGCGGAAGAAG 0.587 OREG0026685 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SRGAP3 9901 broad.mit.edu 37 3 9034632 9034632 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:9034632G>A uc003brf.1 - 20 3192 c.2516C>T c.(2515-2517)ACG>ATG p.T839M SRGAP3_uc003brg.1_Missense_Mutation_p.T815M NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 839 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GATGTGCTCCGTGGGGGACTG 0.562 T RAF1 pilocytic astrocytoma SETD5 55209 broad.mit.edu 37 3 9483295 9483295 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:9483295A>G uc003brt.2 + 9 1264 c.829A>G c.(829-831)ACT>GCT p.T277A SETD5_uc003brs.1_Missense_Mutation_p.T258A|SETD5_uc003bru.2_Missense_Mutation_p.T179A|SETD5_uc003brv.2_Missense_Mutation_p.T166A|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 277 SET. ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GGGAAGAGTCACTCGTGTTCA 0.398 SLC6A1 6529 broad.mit.edu 37 3 11064133 11064133 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:11064133G>T uc010hdq.2 + 7 1104 c.693G>T c.(691-693)AAG>AAT p.K231N NM_003042 NP_003033 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter 231 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1)|skin(1) 2 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GTATCTGGAAGGGTGTTGGCT 0.547 C3orf31 132001 broad.mit.edu 37 3 11885643 11885643 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:11885643C>T uc003bwh.2 - 2 420 c.178G>A c.(178-180)GCA>ACA p.A60T C3orf31_uc003bwj.2_Missense_Mutation_p.A60T|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Missense_Mutation_p.A60T|C3orf31_uc011aup.1_RNA|C3orf31_uc010hdy.1_RNA NM_138807 NP_620162 Q96BW9 MMP37_HUMAN MMP37-like protein, mitochondrial precursor 60 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane 0 GAATGCCATGCGACAGGGTCA 0.408 CAND2 23066 broad.mit.edu 37 3 12875478 12875478 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:12875478C>T uc003bxk.2 + 15 3757 c.3708C>T c.(3706-3708)AGC>AGT p.S1236S CAND2_uc003bxj.2_Silent_p.S1119S NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 1236 HEAT 26. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 TGGAGCTCAGCTAGTCCCCTC 0.567 C3orf19 51244 broad.mit.edu 37 3 14711585 14711585 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:14711585G>A uc003byw.2 + 10 1188 c.1097G>A c.(1096-1098)CGC>CAC p.R366H C3orf19_uc010hej.2_Missense_Mutation_p.R195H NM_016474 NP_057558 Q6PII3 CC019_HUMAN hypothetical protein LOC51244 366 0 GAGTGGGACCGCGGAAAAGGT 0.512 ANKRD28 23243 broad.mit.edu 37 3 15749455 15749455 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:15749455G>A uc003caj.1 - 14 1576 c.1433C>T c.(1432-1434)GCA>GTA p.A478V ANKRD28_uc003cai.1_Missense_Mutation_p.A324V|ANKRD28_uc011avz.1_Missense_Mutation_p.A324V|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.A508V|ANKRD28_uc003cam.2_Missense_Mutation_p.A511V NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 478 ANK 14. nucleoplasm protein binding breast(1) 1 TGATGTAGCTGCATAGTGCAG 0.463 KCNH8 131096 broad.mit.edu 37 3 19492689 19492689 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:19492689A>G uc003cbk.1 + 10 1813 c.1618A>G c.(1618-1620)ATG>GTG p.M540V KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.M1V|KCNH8_uc011awf.1_3'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 540 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 TGACATCACTATGCACTTGAA 0.438 NR1D2 9975 broad.mit.edu 37 3 24004097 24004097 + Splice_Site SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:24004097G>A uc003ccs.2 + 5 1465 c.1146_splice c.e5+1 p.L382_splice NR1D2_uc010hfd.2_Splice_Site|NR1D2_uc011awk.1_Splice_Site_p.L307_splice NM_005126 NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding urinary_tract(1)|kidney(1)|skin(1) 3 AATGCATCTGGTATAGTGAAA 0.373 GOLGA4 2803 broad.mit.edu 37 3 37368531 37368531 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:37368531T>C uc003cgv.2 + 14 5458 c.5154T>C c.(5152-5154)TAT>TAC p.Y1718Y GOLGA4_uc010hgr.1_Silent_p.Y1279Y|GOLGA4_uc003cgw.2_Silent_p.Y1740Y|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.Y1599Y NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 1718 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 TGGCAGCATATACTGAACAAG 0.353 XYLB 9942 broad.mit.edu 37 3 38438615 38438615 + Missense_Mutation SNP C C T rs2234625 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:38438615C>T uc003cic.2 + 17 1512 c.1403C>T c.(1402-1404)TCG>TTG p.S468L XYLB_uc011ayp.1_Missense_Mutation_p.S331L|XYLB_uc003cid.1_Missense_Mutation_p.S390L NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 468 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) ACTGCCAACTCGGCCTGTGTG 0.542 TGM4 7047 broad.mit.edu 37 3 44943299 44943299 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:44943299G>T uc003coc.3 + 8 920 c.847G>T c.(847-849)GGC>TGC p.G283C NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 283 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GAGAGCGTTGGGCATCCCAGC 0.577 LIMD1 8994 broad.mit.edu 37 3 45637492 45637492 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:45637492G>A uc003coq.2 + 1 1170 c.1121G>A c.(1120-1122)TGC>TAC p.C374Y NM_014240 NP_055055 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 374 cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) AAGCCTGGCTGCACAGACCTT 0.612 FYCO1 79443 broad.mit.edu 37 3 46009351 46009351 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:46009351C>T uc003cpb.3 - 8 1681 c.1475G>A c.(1474-1476)CGG>CAG p.R492Q FYCO1_uc011bal.1_Missense_Mutation_p.R492Q NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 492 Potential. transport integral to membrane metal ion binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) TTTTTTCTCCCGCCTCAACTC 0.622 CELSR3 1951 broad.mit.edu 37 3 48699642 48699642 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:48699642G>A uc003cul.2 - 1 707 c.426C>T c.(424-426)TGC>TGT p.C142C CELSR3_uc003cuf.1_Silent_p.C212C NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 142 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTGTCCGCCCGCAAGAGGAGA 0.622 QARS 5859 broad.mit.edu 37 3 49139862 49139862 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:49139862T>C uc003cvx.2 - 6 565 c.560A>G c.(559-561)AAG>AGG p.K187R QARS_uc011bcd.1_Missense_Mutation_p.K42R|QARS_uc003cvy.2_Missense_Mutation_p.K42R|QARS_uc011bce.1_Missense_Mutation_p.K176R|QARS_uc011bcf.1_Missense_Mutation_p.K187R NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 187 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) CTTGAACTTCTTCTCCAGATC 0.572 CCDC71 64925 broad.mit.edu 37 3 49200881 49200881 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:49200881T>C uc003cwg.3 - 2 899 c.761A>G c.(760-762)CAC>CGC p.H254R NM_022903 NP_075054 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 254 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TTTGCTCTGGTGCCCAGAGCC 0.632 BSN 8927 broad.mit.edu 37 3 49688509 49688509 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:49688509G>A uc003cxe.3 + 4 2097 c.1983G>A c.(1981-1983)GCG>GCA p.A661A NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 661 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GTGGGGAGGCGGAGGTCAGTC 0.597 MON1A 84315 broad.mit.edu 37 3 49947986 49947986 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:49947986C>T uc003cxz.2 - 4 1362 c.1236G>A c.(1234-1236)GCG>GCA p.A412A MON1A_uc003cya.2_Silent_p.A250A|MON1A_uc003cyb.2_Silent_p.A250A NM_032355 NP_115731 Q86VX9 MON1A_HUMAN MON1 homolog A isoform a 315 protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CCAGGCTGCGCGCACGCGCCT 0.692 NT5DC2 64943 broad.mit.edu 37 3 52559266 52559266 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:52559266G>A uc003deo.2 - 11 1478 c.1054C>T c.(1054-1056)CGC>TGC p.R352C NT5DC2_uc003dem.2_Missense_Mutation_p.R222C|NT5DC2_uc003den.2_Missense_Mutation_p.R389C|NT5DC2_uc010hmi.2_Missense_Mutation_p.R364C|NT5DC2_uc010hmj.2_Missense_Mutation_p.R168C NM_022908 NP_075059 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 isoform 2 352 hydrolase activity|metal ion binding 0 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) TAGAGCACGCGGGGGCCACGC 0.642 PBRM1 55193 broad.mit.edu 37 3 52595943 52595943 + Silent SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:52595943G>T uc003des.2 - 25 4140 c.4128C>A c.(4126-4128)GGC>GGA p.G1376G PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.G1376G|PBRM1_uc003der.2_Silent_p.G1344G|PBRM1_uc003det.2_Silent_p.G1391G|PBRM1_uc003deu.2_Silent_p.G1391G|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.G1376G|PBRM1_uc010hmk.1_Silent_p.G1351G|PBRM1_uc003dey.2_Silent_p.G1324G|PBRM1_uc003dez.1_Silent_p.G1375G NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 1376 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCCGTTTGGAGCCTTCCTTCT 0.463 Mis|N|F|S|D|O clear cell renal carcinoma|breast IL17RB 55540 broad.mit.edu 37 3 53899191 53899191 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:53899191C>T uc003dha.2 + 11 1404 c.1365C>T c.(1363-1365)GAC>GAT p.D455D NM_018725 NP_061195 Q9NRM6 I17RB_HUMAN interleukin 17B receptor precursor 455 SEFIR.|Cytoplasmic (Potential). Missing (in Ref. 2; AA sequence). defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) ATACAAAAGACGATTACAATG 0.463 LRTM1 57408 broad.mit.edu 37 3 54952709 54952709 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:54952709T>A uc003dhl.2 - 3 949 c.815A>T c.(814-816)GAG>GTG p.E272V CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 272 Extracellular (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) GGGTTTGAGCTCGCACTCCAA 0.607 FAM107A 11170 broad.mit.edu 37 3 58555555 58555555 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:58555555G>A uc003dkm.2 - 3 592 c.33C>T c.(31-33)GAC>GAT p.D11D FAM107A_uc003dko.2_Silent_p.D42D|FAM107A_uc003dkn.2_Silent_p.D11D|FAM107A_uc010hnm.2_Silent_p.D39D|FAM107A_uc003dkp.1_Silent_p.D11D NM_007177 NP_009108 O95990 F107A_HUMAN downregulated in renal cell carcinoma 11 regulation of cell growth nucleus protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154) GGCCCCCAATGTCTGCCCGCT 0.597 LRIG1 26018 broad.mit.edu 37 3 66467669 66467669 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:66467669G>A uc003dmx.2 - 4 401 c.387C>T c.(385-387)AGC>AGT p.S129S LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Silent_p.S129S NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 129 Extracellular (Potential).|LRR 3. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCCCCTCCACGCTGCGAATCT 0.488 KBTBD8 84541 broad.mit.edu 37 3 67053771 67053771 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:67053771C>T uc003dmy.2 + 3 433 c.380C>T c.(379-381)GCT>GTT p.A127V KBTBD8_uc011bfv.1_Intron NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN T-cell activation kelch repeat protein 127 ovary(2)|large_intestine(1)|breast(1) 4 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) TTCACTGCAGCTAGCATCTTC 0.418 GXYLT2 727936 broad.mit.edu 37 3 72971426 72971426 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:72971426A>G uc003dpg.2 + 3 540 c.540A>G c.(538-540)GGA>GGG p.G180G NM_001080393 NP_001073862 A0PJZ3 GXLT2_HUMAN glycosyltransferase 8 domain containing 4 180 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 TTTCTGTTGGAAACCCTCAGG 0.453 CNTN3 5067 broad.mit.edu 37 3 74420384 74420384 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:74420384C>T uc003dpm.1 - 5 701 c.621G>A c.(619-621)GTG>GTA p.V207V NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 207 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GAGAGCCCAGCACTCGGGCAT 0.493 VGLL3 389136 broad.mit.edu 37 3 87027811 87027811 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:87027811G>T uc003dqn.2 - 2 632 c.268C>A c.(268-270)CTT>ATT p.L90I NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) TAAGTGAAAAGGACACAGCGA 0.408 EPHA3 2042 broad.mit.edu 37 3 89499360 89499360 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:89499360C>T uc003dqy.2 + 15 2755 c.2530C>T c.(2530-2532)CCA>TCA p.P844S EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 844 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTATCGACTGCCACCCCCCAT 0.468 TSP Lung(6;0.00050) IMPG2 50939 broad.mit.edu 37 3 100949961 100949961 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:100949961G>A uc003duq.1 - 16 3465 c.3262C>T c.(3262-3264)CGA>TGA p.R1088* IMPG2_uc011bhe.1_Nonsense_Mutation_p.R951*|IMPG2_uc010hpj.1_Intron NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1088 Extracellular (Potential).|EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TGCTTGCCTCGGTACCACCAG 0.493 MYH15 22989 broad.mit.edu 37 3 108183492 108183492 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:108183492G>A uc003dxa.1 - 16 1841 c.1784C>T c.(1783-1785)GCA>GTA p.A595V NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 595 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CACCACTCCTGCATAATGGAC 0.408 WDR52 55779 broad.mit.edu 37 3 113092397 113092397 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:113092397A>G uc003eae.1 - 18 2351 c.2305T>C c.(2305-2307)TAT>CAT p.Y769H NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 769 central_nervous_system(1) 1 CCAGAATCATAGCCACCCTAG 0.333 SIDT1 54847 broad.mit.edu 37 3 113285337 113285337 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:113285337G>A uc003eak.2 + 2 944 c.293G>A c.(292-294)CGC>CAC p.R98H SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.R98H|SIDT1_uc011big.1_5'UTR NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 98 Extracellular (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 GTTGTGGTTCGCCAGCAGAAA 0.493 KIAA2018 205717 broad.mit.edu 37 3 113378994 113378994 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:113378994T>G uc003eam.2 - 7 1946 c.1535A>C c.(1534-1536)CAG>CCG p.Q512P KIAA2018_uc003eal.2_Missense_Mutation_p.Q456P NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 512 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 AACTTGTGGCTGGGCAATTAG 0.438 KIAA1407 57577 broad.mit.edu 37 3 113697052 113697052 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:113697052C>T uc003eax.2 - 16 2734 c.2587G>A c.(2587-2589)GCA>ACA p.A863T KIAA1407_uc011bin.1_RNA NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 863 ovary(2) 2 TGCTCCGCTGCAATCTCATGC 0.418 STXBP5L 9515 broad.mit.edu 37 3 121132132 121132132 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:121132132C>T uc003eec.3 + 25 3288 c.3148C>T c.(3148-3150)CGG>TGG p.R1050W STXBP5L_uc011bji.1_Missense_Mutation_p.R1026W NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 1050 WD 14. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) TGAAATTCAGCGGTTAACATA 0.383 CD86 942 broad.mit.edu 37 3 121825268 121825268 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:121825268T>C uc003eet.2 + 4 740 c.624T>C c.(622-624)CCT>CCC p.P208P CD86_uc011bjo.1_Silent_p.P126P|CD86_uc011bjp.1_Silent_p.P96P|CD86_uc003eeu.2_Silent_p.P202P NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 208 Ig-like C2-type.|Extracellular (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) TTTCATTCCCTGATGTTACGA 0.398 ZNF148 7707 broad.mit.edu 37 3 124951370 124951370 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:124951370G>A uc003ehx.3 - 9 2686 c.2200C>T c.(2200-2202)CGT>TGT p.R734C SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.R734C|ZNF148_uc010hsa.2_Missense_Mutation_p.R734C|ZNF148_uc003eia.3_Missense_Mutation_p.R734C|ZNF148_uc003ehy.2_Missense_Mutation_p.R71C NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 734 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 TAGGGAGCACGGAAGGGCTGT 0.493 ACAD9 28976 broad.mit.edu 37 3 128621403 128621403 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:128621403T>C uc003ela.3 + 9 1092 c.890T>C c.(889-891)ATG>ACG p.M297T ACAD9_uc010hsw.1_Missense_Mutation_p.M174T|ACAD9_uc011bks.1_Missense_Mutation_p.M174T|ACAD9_uc003elb.2_Missense_Mutation_p.M174T|ACAD9_uc003elc.1_Missense_Mutation_p.M115T|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_5'Flank NM_014049 NP_054768 Q9H845 ACAD9_HUMAN acyl-Coenzyme A dehydrogenase family, member 9 297 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding ovary(2)|central_nervous_system(1) 3 CAGGTGGCCATGAACATCCTC 0.612 NPHP3 27031 broad.mit.edu 37 3 132403635 132403635 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:132403635T>C uc003epe.1 - 24 3410 c.3333A>G c.(3331-3333)ACA>ACG p.T1111T NPHP3_uc003eoz.1_5'UTR|NPHP3_uc003epd.1_Silent_p.T353T NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 1111 TPR 7. maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 ACTGGTCAGCTGTTCTGTGAA 0.418 CEP63 80254 broad.mit.edu 37 3 134278244 134278244 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:134278244G>A uc003eqo.1 + 15 2375 c.1926G>A c.(1924-1926)ATG>ATA p.M642I CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 642 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 CTGAGAGTATGAATGACCAAG 0.333 ZBTB38 253461 broad.mit.edu 37 3 141161920 141161920 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:141161920A>C uc003etw.2 + 8 1672 c.690A>C c.(688-690)GAA>GAC p.E230D ZBTB38_uc010hun.2_Missense_Mutation_p.E227D|ZBTB38_uc010huo.2_Missense_Mutation_p.E230D|ZBTB38_uc003ety.2_Missense_Mutation_p.E230D|ZBTB38_uc010hup.2_Missense_Mutation_p.E231D NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 230 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CCGTAGCTGAAGCTTACAGAA 0.532 FAM194A 131831 broad.mit.edu 37 3 150416589 150416589 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:150416589T>C uc003eyg.2 - 3 599 c.542A>G c.(541-543)AAA>AGA p.K181R FAM194A_uc003eyh.2_Missense_Mutation_p.K35R NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 181 skin(2)|ovary(1) 3 CGATTGCACTTTATCAGACAA 0.269 RSRC1 51319 broad.mit.edu 37 3 157920896 157920896 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:157920896G>A uc003fbt.2 + 4 467 c.356G>A c.(355-357)CGT>CAT p.R119H RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R119H|RSRC1_uc003fbv.2_Intron NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 119 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) TCTCATAGTCGTAGCAGTGAA 0.378 WDR49 151790 broad.mit.edu 37 3 167246886 167246886 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:167246886A>C uc003fev.1 - 10 1610 c.1304T>G c.(1303-1305)CTT>CGT p.L435R WDR49_uc003feu.1_Missense_Mutation_p.L260R|WDR49_uc011bpd.1_Missense_Mutation_p.L499R|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 435 WD 7. large_intestine(1)|ovary(1)|skin(1) 3 TCCTGTGGTAAGGTATCGATT 0.338 GOLIM4 27333 broad.mit.edu 37 3 167750557 167750557 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:167750557A>G uc003ffe.2 - 9 1271 c.927T>C c.(925-927)CAT>CAC p.H309H GOLIM4_uc011bpe.1_Silent_p.H309H|GOLIM4_uc011bpf.1_Silent_p.H281H|GOLIM4_uc011bpg.1_Silent_p.H281H NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 309 Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 CTGCCTCCTTATGGGTGGGAG 0.512 NAALADL2 254827 broad.mit.edu 37 3 174814591 174814591 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:174814591G>A uc003fit.2 + 2 142 c.55G>A c.(55-57)GCC>ACC p.A19T NAALADL2_uc003fiu.1_Missense_Mutation_p.A12T NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 19 Cytoplasmic (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TAAAAAGATGGCCTATCAGAA 0.343 TBL1XR1 79718 broad.mit.edu 37 3 176756101 176756101 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:176756101C>T uc003fiw.3 - 11 1307 c.1047G>A c.(1045-1047)ACG>ACA p.T349T TBL1XR1_uc003fix.3_Silent_p.T349T|TBL1XR1_uc011bpz.1_Silent_p.T21T NM_024665 NP_078941 Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 349 WD 5. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) GGTTTCTTACCGTATGTCCTT 0.343 KCNMB3 27094 broad.mit.edu 37 3 178977011 178977011 + Translation_Start_Site SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:178977011G>T uc003fjo.2 - 1 669 c.-273C>A c.(-275--271)GCCTG>GCATG KCNMB3_uc003fjl.3_RNA|KCNMB3_uc011bqc.1_Intron|KCNMB3_uc003fjp.1_Intron NM_171829 NP_741980 Q9NPA1 KCMB3_HUMAN calcium-activated potassium channel beta 3 detection of calcium ion|platelet activation|regulation of action potential in neuron voltage-gated potassium channel complex calcium-activated potassium channel activity|potassium channel regulator activity 0 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) CTGCTTCACAGGCATCACTAA 0.458 EIF2B5 8893 broad.mit.edu 37 3 183859721 183859721 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:183859721G>A uc003fmp.2 + 8 1529 c.1165G>A c.(1165-1167)GTG>ATG p.V389M EIF2B5_uc003fmq.2_Missense_Mutation_p.V110M|EIF2B5_uc003fmr.2_5'Flank NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 389 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) AGGTGATAACGTGGTGCTGGA 0.572 ADIPOQ 9370 broad.mit.edu 37 3 186572260 186572260 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:186572260A>G uc003fra.2 + 3 586 c.502A>G c.(502-504)ATG>GTG p.M168V ADIPOQ_uc010hyy.2_Missense_Mutation_p.M168V NM_004797 NP_004788 Q15848 ADIPO_HUMAN adiponectin precursor 168 C1q. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity ovary(1) 1 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) CACAGTCTATATGAAGGATGT 0.463 LPP 4026 broad.mit.edu 37 3 188327061 188327061 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:188327061A>G uc003frs.1 + 6 788 c.542A>G c.(541-543)AAA>AGA p.K181R LPP_uc011bsg.1_Missense_Mutation_p.K181R|LPP_uc011bsi.1_Missense_Mutation_p.K181R|LPP_uc003frt.2_Missense_Mutation_p.K181R|LPP_uc011bsj.1_Missense_Mutation_p.K18R NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 181 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) TCTACATTGAAACCACAGCCT 0.577 T HMGA2|MLL|C12orf9 lipoma|leukemia IL1RAP 3556 broad.mit.edu 37 3 190366420 190366420 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:190366420C>T uc003fsm.1 + 12 1845 c.1639C>T c.(1639-1641)CCA>TCA p.P547S IL1RAP_uc010hzg.1_Missense_Mutation_p.P547S|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.P547S|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 547 Cytoplasmic (Potential).|TIR. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) GGTGGCCATGCCAGTGAAGAA 0.473 ATP13A4 84239 broad.mit.edu 37 3 193160315 193160315 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:193160315G>A uc003ftd.2 - 19 2291 c.2183C>T c.(2182-2184)GCC>GTC p.A728V ATP13A4_uc003fte.1_Missense_Mutation_p.A728V|ATP13A4_uc011bsr.1_Missense_Mutation_p.A199V|ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 728 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) AGATTTTCTGGCCACTGTTAT 0.413 GP5 2814 broad.mit.edu 37 3 194118478 194118478 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:194118478C>T uc003ftv.1 - 2 565 c.534G>A c.(532-534)TCG>TCA p.S178S NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 178 Extracellular (Potential).|LRR 5. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GGTTGTTTCCCGATAAATCCA 0.532 PAK2 5062 broad.mit.edu 37 3 196554107 196554107 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:196554107A>G uc003fwy.3 + 14 1713 c.1391A>G c.(1390-1392)CAG>CGG p.Q464R NM_002577 NP_002568 Q13177 PAK2_HUMAN p21-activated kinase 2 464 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity ovary(1)|lung(1) 2 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405) CCAGAACTTCAGAATCCAGAG 0.388 KIAA1530 57654 broad.mit.edu 37 4 1373950 1373950 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:1373950C>T uc003gde.3 + 11 2131 c.1684C>T c.(1684-1686)CCT>TCT p.P562S KIAA1530_uc010ibv.2_Missense_Mutation_p.P113S NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 562 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) GAAGTTTGAGCCTGTGCAGCA 0.672 HTT 3064 broad.mit.edu 37 4 3224185 3224185 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:3224185G>A uc011bvq.1 + 55 7592 c.7447G>A c.(7447-7449)GTG>ATG p.V2483M NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 2481 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCAGCCCCTCGTGATGGAGCA 0.542 EVC2 132884 broad.mit.edu 37 4 5567005 5567005 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:5567005C>A uc003gij.2 - 21 3693 c.3639G>T c.(3637-3639)TGG>TGT p.W1213C EVC2_uc011bwb.1_Missense_Mutation_p.W653C|EVC2_uc003gik.2_Missense_Mutation_p.W1133C NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1213 integral to membrane large_intestine(3)|ovary(2) 5 TCTTGCGGGCCCACAGCATCT 0.572 WFS1 7466 broad.mit.edu 37 4 6303640 6303640 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:6303640C>T uc003giy.2 + 8 2284 c.2118C>T c.(2116-2118)TAC>TAT p.Y706Y WFS1_uc003gix.2_Silent_p.Y706Y|WFS1_uc003giz.2_Silent_p.Y524Y NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 706 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) GCTTCAAGTACGTCCGCGTGA 0.652 DRD5 1816 broad.mit.edu 37 4 9783925 9783925 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:9783925C>T uc003gmb.3 + 1 668 c.272C>T c.(271-273)GCG>GTG p.A91V NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 91 Helical; Name=2; (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CTTTTCGTGGCGCTGCTGGTC 0.632 ZNF518B 85460 broad.mit.edu 37 4 10446426 10446426 + Silent SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:10446426A>C uc003gmn.2 - 3 2014 c.1527T>G c.(1525-1527)GCT>GCG p.A509A NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 AACAAACAGCAGCTTTATATG 0.408 BOD1L 259282 broad.mit.edu 37 4 13604645 13604645 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:13604645C>A uc003gmz.1 - 10 3996 c.3879G>T c.(3877-3879)AGG>AGT p.R1293S BOD1L_uc010idr.1_Missense_Mutation_p.R630S NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1293 DNA binding ovary(5)|breast(1) 6 CATACGATTCCCTCAGAGGCA 0.468 CPEB2 132864 broad.mit.edu 37 4 15009022 15009022 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:15009022C>T uc003gni.1 + 2 532 c.445C>T c.(445-447)CGT>TGT p.R149C CPEB2_uc003gnj.1_Missense_Mutation_p.R149C|CPEB2_uc003gnk.1_Missense_Mutation_p.R149C|CPEB2_uc003gnl.1_Missense_Mutation_p.R149C|CPEB2_uc003gnm.1_Missense_Mutation_p.R149C|CPEB2_uc003gnn.1_Missense_Mutation_p.R149C NM_182485 NP_872291 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding 149 regulation of translation cytoplasm nucleotide binding|RNA binding skin(1) 1 CAGAGATCATCGTAGAACCGG 0.488 DCAF16 54876 broad.mit.edu 37 4 17805438 17805438 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:17805438T>C uc003gpn.2 - 3 1388 c.327A>G c.(325-327)CCA>CCG p.P109P DCAF16_uc003gpo.2_RNA NM_017741 NP_060211 Q9NXF7 DCA16_HUMAN DDB1 and CUL4 associated factor 16 109 CUL4 RING ubiquitin ligase complex ovary(1) 1 ATTCAGGAATTGGTTCCAGTT 0.488 STIM2 57620 broad.mit.edu 37 4 27010595 27010595 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:27010595A>C uc003gsh.3 + 11 1961 c.1745A>C c.(1744-1746)GAC>GCC p.D582A STIM2_uc003gsg.3_Missense_Mutation_p.D574A|STIM2_uc010iex.2_Missense_Mutation_p.D574A|STIM2_uc010iey.2_Missense_Mutation_p.D198A NM_020860 NP_065911 Q9P246 STIM2_HUMAN stromal interaction molecule 2 487 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding central_nervous_system(1)|skin(1) 2 Breast(46;0.0503) TTAGATGAAGACACACCCCCA 0.428 WDR19 57728 broad.mit.edu 37 4 39254779 39254779 + Missense_Mutation SNP G G C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:39254779G>C uc003gtv.2 + 25 2897 c.2743G>C c.(2743-2745)GTT>CTT p.V915L WDR19_uc011byi.1_Missense_Mutation_p.V755L|WDR19_uc003gtw.1_Missense_Mutation_p.V512L NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 915 TPR 4. cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 CAAAGAAGCTGTTGTAGCTTA 0.323 APBB2 323 broad.mit.edu 37 4 40827943 40827943 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:40827943C>T uc003gvl.2 - 15 2404 c.1774G>A c.(1774-1776)GTG>ATG p.V592M APBB2_uc010ifu.2_Missense_Mutation_p.V164M|APBB2_uc003gvm.2_Missense_Mutation_p.V570M|APBB2_uc003gvn.2_Missense_Mutation_p.V593M|APBB2_uc003gvk.2_Missense_Mutation_p.V44M NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 592 PID 2. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 AAGTACTGCACGTGGAACTTC 0.458 APBB2 323 broad.mit.edu 37 4 40832595 40832595 + Splice_Site SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:40832595C>A uc003gvl.2 - 13 2157 c.1527_splice c.e13-1 p.R509_splice APBB2_uc010ifu.2_Splice_Site_p.R81_splice|APBB2_uc003gvm.2_Splice_Site_p.R488_splice|APBB2_uc003gvn.2_Splice_Site_p.R510_splice|APBB2_uc003gvk.2_Splice_Site NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 AGCAAAATCCCTGTGCAAGCA 0.393 GUF1 60558 broad.mit.edu 37 4 44699460 44699460 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:44699460G>A uc003gww.3 + 16 2078 c.1871G>A c.(1870-1872)TGT>TAT p.C624Y GUF1_uc011bza.1_Missense_Mutation_p.C31Y NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog 624 translation mitochondrial inner membrane GTP binding|GTPase activity upper_aerodigestive_tract(1) 1 TTGGCAAAATGTGTATGTATC 0.289 FRYL 285527 broad.mit.edu 37 4 48559087 48559087 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:48559087G>A uc003gyh.1 - 35 4779 c.4174C>T c.(4174-4176)CTT>TTT p.L1392F FRYL_uc003gyk.2_Missense_Mutation_p.L1392F|FRYL_uc003gyg.1_Missense_Mutation_p.L88F|FRYL_uc003gyi.1_Missense_Mutation_p.L281F NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1392 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CCATCTGCAAGTGTGGTCCAC 0.433 KDR 3791 broad.mit.edu 37 4 55958789 55958789 + Nonsense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:55958789G>A uc003has.2 - 22 3366 c.3064C>T c.(3064-3066)CGA>TGA p.R1022* KDR_uc003hat.1_Nonsense_Mutation_p.R1022* NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 1022 Protein kinase.|Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTTACCTTTCGCGATGCCAAG 0.458 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) AASDH 132949 broad.mit.edu 37 4 57244433 57244433 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:57244433G>A uc003hbn.2 - 4 702 c.549C>T c.(547-549)CAC>CAT p.H183H AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.H30H|AASDH_uc003hbo.2_Silent_p.H83H|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Silent_p.H183H|AASDH_uc003hbp.2_Silent_p.H183H NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 183 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TCAGATCCATGTGTTCTTCTG 0.368 ENAM 10117 broad.mit.edu 37 4 71508780 71508780 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:71508780C>T uc011caw.1 + 9 1918 c.1637C>T c.(1636-1638)GCT>GTT p.A546V NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 546 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) TATCAGCCTGCTGTATACCCT 0.418 ENAM 10117 broad.mit.edu 37 4 71509090 71509090 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:71509090C>T uc011caw.1 + 9 2228 c.1947C>T c.(1945-1947)GTC>GTT p.V649V NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 649 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) AGGAGATAGTCCCTTATAATG 0.458 ENAM 10117 broad.mit.edu 37 4 71509960 71509960 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:71509960G>T uc011caw.1 + 9 3098 c.2817G>T c.(2815-2817)AGG>AGT p.R939S NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 939 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) CAGAGAAGAGGGAAAGCCAAA 0.458 G3BP2 9908 broad.mit.edu 37 4 76587173 76587173 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:76587173G>A uc003hir.2 - 2 202 c.37C>T c.(37-39)CGG>TGG p.R13W G3BP2_uc003his.2_Missense_Mutation_p.R13W|G3BP2_uc003hit.2_Missense_Mutation_p.R13W NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 13 NTF2. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ACAAACTCCCGCCCTACAAGC 0.358 SCARB2 950 broad.mit.edu 37 4 77095377 77095377 + Missense_Mutation SNP G G A rs148588727 by1000genomes TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:77095377G>A uc003hju.1 - 7 1253 c.914C>T c.(913-915)ACG>ATG p.T305M SCARB2_uc011cbu.1_Missense_Mutation_p.T162M NM_005506 NP_005497 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 305 Lumenal (Potential). cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity 0 Lung(101;0.196) ATTGTCTGACGTATTGGCTAA 0.463 CCDC158 339965 broad.mit.edu 37 4 77283437 77283437 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:77283437C>T uc003hkb.3 - 12 2015 c.1862G>A c.(1861-1863)CGG>CAG p.R621Q NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 621 Potential. skin(3)|ovary(2)|pancreas(1) 6 CTCAAGCTCCCGGATCTTTGC 0.388 ANKRD56 345079 broad.mit.edu 37 4 77816758 77816758 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:77816758T>G uc003hki.2 - 1 2245 c.2245A>C c.(2245-2247)AGC>CGC p.S749R NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 749 0 ATTTCCTTGCTCTTGGCCTTT 0.483 WDFY3 23001 broad.mit.edu 37 4 85645698 85645698 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:85645698T>C uc003hpd.2 - 46 7730 c.7322A>G c.(7321-7323)TAC>TGC p.Y2441C WDFY3_uc003hpe.1_Missense_Mutation_p.Y52C NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2441 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CAGTCGCATGTAGTACTCTTT 0.448 PTPN13 5783 broad.mit.edu 37 4 87680177 87680177 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:87680177T>C uc003hpz.2 + 23 3984 c.3504T>C c.(3502-3504)CCT>CCC p.P1168P PTPN13_uc003hpy.2_Silent_p.P1168P|PTPN13_uc003hqa.2_Silent_p.P1149P|PTPN13_uc003hqb.2_Silent_p.P977P NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1168 PDZ 1. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AAAATGCACCTGAAGATGTGA 0.383 KLHL8 57563 broad.mit.edu 37 4 88104415 88104415 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:88104415T>C uc011cdb.1 - 4 1277 c.892A>G c.(892-894)AGC>GGC p.S298G KLHL8_uc003hql.1_Missense_Mutation_p.S298G|KLHL8_uc003hqm.1_Missense_Mutation_p.S222G|KLHL8_uc003hqn.1_Missense_Mutation_p.S115G|KLHL8_uc010ikj.1_Intron NM_020803 NP_065854 Q9P2G9 KLHL8_HUMAN kelch-like 8 298 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) ACTGCTCTGCTACTCAAGTGA 0.388 IBSP 3381 broad.mit.edu 37 4 88732603 88732603 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:88732603C>T uc003hqx.3 + 7 593 c.495C>T c.(493-495)AGC>AGT p.S165S NM_004967 NP_004958 P21815 SIAL_HUMAN integrin-binding sialoprotein precursor 165 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) acgaagaaagcgaagcagaag 0.338 TSPAN5 10098 broad.mit.edu 37 4 99407915 99407915 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:99407915G>A uc003hub.2 - 3 603 c.253C>T c.(253-255)CGG>TGG p.R85W TSPAN5_uc011cdz.1_Missense_Mutation_p.R14W NM_005723 NP_005714 P62079 TSN5_HUMAN transmembrane 4 superfamily member 9 85 Cytoplasmic (Potential). integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;1.89e-07) GTGTTTTCCCGTAGCGCTCCA 0.478 EIF4E 1977 broad.mit.edu 37 4 99823101 99823101 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:99823101T>C uc003hue.2 - 2 1574 c.51A>G c.(49-51)ACA>ACG p.T17T EIF4E_uc011cea.1_Silent_p.T37T|EIF4E_uc011ceb.1_Silent_p.T17T|EIF4E_uc011cec.1_Silent_p.T17T NM_001968 NP_001959 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E 17 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity lung(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) TCTCCTCTTCTGTAGTCGGGG 0.373 MTTP 4547 broad.mit.edu 37 4 100530094 100530094 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:100530094G>A uc003hvc.3 + 13 1985 c.1729G>A c.(1729-1731)GCC>ACC p.A577T MTTP_uc011cej.1_Missense_Mutation_p.A604T NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 577 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) ATACATGCTCGCCATTGTTCA 0.398 CYP2U1 113612 broad.mit.edu 37 4 108870669 108870669 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:108870669G>A uc003hyp.2 + 4 1535 c.1452G>A c.(1450-1452)GGG>GGA p.G484G CYP2U1_uc011cfi.1_Silent_p.G275G NM_183075 NP_898898 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, 484 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) TTCCTTTTGGGATAGGTCAGT 0.303 CFI 3426 broad.mit.edu 37 4 110673647 110673647 + Missense_Mutation SNP A A T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:110673647A>T uc003hzr.3 - 8 1125 c.917T>A c.(916-918)ATT>AAT p.I306N CFI_uc003hzq.2_Missense_Mutation_p.I103N|CFI_uc011cft.1_Missense_Mutation_p.I314N|CFI_uc003hzs.3_Missense_Mutation_p.I299N NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 306 complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) AGCAGTCAAAATTTCTGTTTC 0.279 PITX2 5308 broad.mit.edu 37 4 111539779 111539779 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:111539779G>A uc003iad.2 - 5 1038 c.456C>T c.(454-456)TGC>TGT p.C152C PITX2_uc003iac.2_Silent_p.C159C|PITX2_uc003iae.2_Silent_p.C106C|PITX2_uc010iml.2_Silent_p.C23C|PITX2_uc003iaf.2_Silent_p.C152C NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 152 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) AGCCATTCTTGCATAGCTCGG 0.577 UGT8 7368 broad.mit.edu 37 4 115597196 115597196 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:115597196C>A uc003ibs.2 + 6 1900 c.1378C>A c.(1378-1380)CTA>ATA p.L460I UGT8_uc003ibt.2_Missense_Mutation_p.L460I|UGT8_uc011cge.1_RNA NM_001128174 NP_001121646 Q16880 CGT_HUMAN UDP-galactose-ceramide galactosyltransferase 8 460 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) AGCCCATCACCTACGTGCCGC 0.418 FAT4 79633 broad.mit.edu 37 4 126328260 126328260 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:126328260G>A uc003ifj.3 + 3 5533 c.5533G>A c.(5533-5535)GTG>ATG p.V1845M FAT4_uc011cgp.1_Missense_Mutation_p.V143M NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1845 Cadherin 18.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTCCAGACCCGTGTACTCTTT 0.408 FAT4 79633 broad.mit.edu 37 4 126411935 126411935 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:126411935G>T uc003ifj.3 + 17 13958 c.13958G>T c.(13957-13959)AGG>ATG p.R4653M FAT4_uc011cgp.1_Missense_Mutation_p.R2894M|FAT4_uc003ifi.1_Missense_Mutation_p.R2130M NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4653 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TCAATCCAGAGGCACAGTCCC 0.507 HSPA4L 22824 broad.mit.edu 37 4 128739575 128739575 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:128739575G>T uc003ifm.2 + 13 1927 c.1674G>T c.(1672-1674)AAG>AAT p.K558N HSPA4L_uc010iny.1_Missense_Mutation_p.K517N|HSPA4L_uc011cgr.1_Missense_Mutation_p.K525N NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 558 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 CCAAAACAAAGGTTTGGTTTA 0.313 ZNF827 152485 broad.mit.edu 37 4 146807029 146807029 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:146807029G>A uc003ikn.2 - 4 1596 c.1548C>T c.(1546-1548)GGC>GGT p.G516G ZNF827_uc003ikm.2_Silent_p.G516G|ZNF827_uc010iox.2_Silent_p.G166G NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) AAGGCGAGACGCCAGCCCCTC 0.597 NR3C2 4306 broad.mit.edu 37 4 149002580 149002580 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:149002580G>A uc003ilj.3 - 9 3204 c.2870C>T c.(2869-2871)CCC>CTC p.P957L NR3C2_uc003ilk.3_Missense_Mutation_p.P840L|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 957 Steroid-binding. P->A: Slightly reduces aldosterone binding and transcription transactivation. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) CAGCATTGCGGGGAACTCTAC 0.602 DCLK2 166614 broad.mit.edu 37 4 151023845 151023845 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:151023845C>T uc003ilm.3 + 2 737 c.637C>T c.(637-639)CGG>TGG p.R213W DCLK2_uc003iln.3_Missense_Mutation_p.R213W|DCLK2_uc003ilo.3_Missense_Mutation_p.R213W|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 213 Doublecortin 2. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) AAAAGCCGTGCGGATCCTTCT 0.418 DCLK2 166614 broad.mit.edu 37 4 151114360 151114360 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:151114360A>G uc003ilm.3 + 3 927 c.827A>G c.(826-828)TAT>TGT p.Y276C DCLK2_uc003iln.3_Missense_Mutation_p.Y276C|DCLK2_uc003ilo.3_Missense_Mutation_p.Y276C|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 276 Doublecortin 2. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) AAATTTCGTTATGCCCAAGAT 0.368 FBXW7 55294 broad.mit.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:153247366C>T uc003ims.2 - 10 1585 c.1436G>A c.(1435-1437)CGA>CAA p.R479Q FBXW7_uc011cii.1_Missense_Mutation_p.R479Q|FBXW7_uc003imt.2_Missense_Mutation_p.R479Q|FBXW7_uc011cih.1_Missense_Mutation_p.R303Q|FBXW7_uc003imq.2_Missense_Mutation_p.R399Q|FBXW7_uc003imr.2_Missense_Mutation_p.R361Q NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 479 WD 3. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R479Q(31)|p.R479L(7)|p.R479G(3)|p.R399Q(2)|p.R240L(1)|p.R399L(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGTGGCATCTCGAGAACCGCT 0.403 Mis|N|D|F colorectal|endometrial|T-ALL FHDC1 85462 broad.mit.edu 37 4 153897541 153897541 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:153897541C>T uc003inf.2 + 11 3173 c.3098C>T c.(3097-3099)CCG>CTG p.P1033L NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 1033 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) CCCCGTGTCCCGAGCTTTGCC 0.632 PPID 5481 broad.mit.edu 37 4 159630906 159630906 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:159630906A>G uc003iqc.2 - 10 1207 c.1095T>C c.(1093-1095)TAT>TAC p.Y365Y NM_005038 NP_005029 Q08752 PPID_HUMAN peptidylprolyl isomerase D 365 protein folding cytoplasm|intermediate filament cytoskeleton cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0159) ACATTTTTGCATATACTGCCT 0.303 RAPGEF2 9693 broad.mit.edu 37 4 160253767 160253767 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:160253767G>A uc003iqg.3 + 11 1880 c.1570G>A c.(1570-1572)GCC>ACC p.A524T NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 524 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) AAAAAGTAAAGCCAACACTGT 0.408 FSTL5 56884 broad.mit.edu 37 4 162307355 162307355 + Silent SNP A A T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:162307355A>T uc003iqh.2 - 16 2524 c.2088T>A c.(2086-2088)ACT>ACA p.T696T FSTL5_uc003iqi.2_Silent_p.T695T|FSTL5_uc010iqv.2_Silent_p.T686T|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 696 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AGACATATGGAGTGCCCGTCA 0.488 MFAP3L 9848 broad.mit.edu 37 4 170926737 170926737 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:170926737C>T uc003isp.3 - 2 470 c.292G>A c.(292-294)GGA>AGA p.G98R MFAP3L_uc003isn.3_5'Flank NM_021647 NP_067679 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like isoform 98 Extracellular (Potential).|Ig-like C2-type. integral to membrane|plasma membrane ovary(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) CTACCTCCTCCTCTCTCCTTC 0.408 AADAT 51166 broad.mit.edu 37 4 171008379 171008379 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:171008379C>A uc003isr.2 - 3 599 c.257G>T c.(256-258)TGG>TTG p.W86L AADAT_uc003iss.2_Missense_Mutation_p.W86L|AADAT_uc003ist.2_Missense_Mutation_p.W90L NM_016228 NP_057312 Q8N5Z0 AADAT_HUMAN kynurenine aminotransferase II 86 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity 0 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTGTTTTAGCCAGGACAAAAG 0.343 SORBS2 8470 broad.mit.edu 37 4 186545449 186545449 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:186545449G>A uc003iyl.2 - 13 1980 c.1122C>T c.(1120-1122)ACC>ACT p.T374T SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.T474T|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.T278T|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.T488T|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 374 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TGGGAGAGACGGTTTCTTCCG 0.542 FAT1 2195 broad.mit.edu 37 4 187524858 187524858 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:187524858C>A uc003izf.2 - 19 11010 c.10822G>T c.(10822-10824)GGG>TGG p.G3608W NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3608 Extracellular (Potential).|Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 AGGTATTGCCCTATGTCTAGC 0.483 HNSCC(5;0.00058) ZFP42 132625 broad.mit.edu 37 4 188924151 188924151 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:188924151G>A uc003izg.1 + 3 435 c.190G>A c.(190-192)GGA>AGA p.G64R ZFP42_uc003izh.1_Missense_Mutation_p.G64R|ZFP42_uc003izi.1_Missense_Mutation_p.G64R NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 64 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TCAGGCTCTCGGAGGGGATGA 0.507 ADCY2 108 broad.mit.edu 37 5 7626360 7626360 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:7626360G>A uc003jdz.1 + 4 718 c.651G>A c.(649-651)CAG>CAA p.Q217Q NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 217 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TCGCTCTTCAGCAAACATATC 0.438 CTNND2 1501 broad.mit.edu 37 5 11364843 11364843 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:11364843G>A uc003jfa.1 - 8 1482 c.1337C>T c.(1336-1338)CCG>CTG p.P446L CTNND2_uc010itt.2_Missense_Mutation_p.P355L|CTNND2_uc011cmy.1_Missense_Mutation_p.P109L|CTNND2_uc011cmz.1_Missense_Mutation_p.P13L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.P13L NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 446 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GTGTGCTGGCGGCAGAGGGTC 0.622 TRIO 7204 broad.mit.edu 37 5 14504649 14504649 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:14504649C>T uc003jff.2 + 55 8565 c.8559C>T c.(8557-8559)GTC>GTT p.V2853V TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2853 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CCCTGCTTGTCGGCCTCCTCG 0.587 ZNF622 90441 broad.mit.edu 37 5 16465635 16465635 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:16465635A>G uc003jfq.2 - 1 260 c.140T>C c.(139-141)TTC>TCC p.F47S NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 47 cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 TCGCTCCTGGAAGCCCTCGGC 0.662 CDH10 1008 broad.mit.edu 37 5 24537611 24537611 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:24537611C>A uc003jgr.1 - 3 736 c.404G>T c.(403-405)AGA>ATA p.R135I CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 135 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CCTCAGAGTTCTTCTGTTAAT 0.393 HNSCC(23;0.051) AGXT2 64902 broad.mit.edu 37 5 35025913 35025913 + Silent SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:35025913G>T uc003jjf.2 - 9 997 c.918C>A c.(916-918)GCC>GCA p.A306A AGXT2_uc003jje.1_5'UTR|AGXT2_uc011com.1_Silent_p.A306A NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 306 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CCAGCTCAAAGGCTTCCTTTA 0.493 C5orf34 375444 broad.mit.edu 37 5 43488034 43488034 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:43488034A>C uc003jnz.1 - 13 2014 c.1697T>G c.(1696-1698)CTT>CGT p.L566R NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 566 breast(1) 1 Lung NSC(6;2.07e-05) TATCTTTTCAAGTTCAGAAGC 0.318 HCN1 348980 broad.mit.edu 37 5 45262407 45262407 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:45262407C>T uc003jok.2 - 8 2314 c.2289G>A c.(2287-2289)CCG>CCA p.P763P NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 763 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CTTCATTTTTCGGCGTGGAGC 0.443 ISL1 3670 broad.mit.edu 37 5 50685764 50685764 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:50685764A>G uc003jor.2 + 4 1311 c.763A>G c.(763-765)ACT>GCT p.T255A NM_002202 NP_002193 P61371 ISL1_HUMAN islet-1 255 Gln-rich. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 Lung NSC(810;0.000845)|Breast(144;0.0411) CAATGACAAAACTGTGAGTGG 0.577 ANKRD55 79722 broad.mit.edu 37 5 55407543 55407543 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:55407543G>A uc003jqu.2 - 10 1184 c.1032C>T c.(1030-1032)AAC>AAT p.N344N ANKRD55_uc003jqt.2_Silent_p.N56N NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 343 skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GGTTGAGCACGTTGAACCGTC 0.512 GPBP1 65056 broad.mit.edu 37 5 56546862 56546862 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:56546862A>G uc003jrh.3 + 10 2328 c.1054A>G c.(1054-1056)ATT>GTT p.I352V GPBP1_uc010iwg.2_Missense_Mutation_p.I372V|GPBP1_uc003jri.3_Missense_Mutation_p.I181V|GPBP1_uc003jrj.3_Missense_Mutation_p.I344V|GPBP1_uc003jrk.3_Missense_Mutation_p.I359V|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) TGAAAATGAAATTCCTCAAGA 0.383 ACTBL2 345651 broad.mit.edu 37 5 56778014 56778014 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:56778014T>C uc003jrm.2 - 1 623 c.521A>G c.(520-522)CAT>CGT p.H174R NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN actin, beta-like 2 174 cytoplasm|cytoskeleton ATP binding ovary(3) 3 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) TAGAATGGCATGAGGCAGGGC 0.552 RNF180 285671 broad.mit.edu 37 5 63509571 63509571 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:63509571C>T uc003jti.2 + 4 528 c.418C>T c.(418-420)CAT>TAT p.H140Y RNF180_uc003jth.3_Missense_Mutation_p.H140Y|RNF180_uc010iws.2_Intron NM_001113561 NP_001107033 Q86T96 RN180_HUMAN ring finger protein 180 isoform 1 140 Cytoplasmic (Potential). integral to membrane|nuclear envelope zinc ion binding 0 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) ATACTTGTCACATCCTAGAGT 0.473 TRIM23 373 broad.mit.edu 37 5 64887740 64887740 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:64887740A>G uc003jty.2 - 11 1667 c.1581T>C c.(1579-1581)ACT>ACC p.T527T TRIM23_uc003jtw.2_Silent_p.T527T|TRIM23_uc003jtx.2_Silent_p.T527T NM_001656 NP_001647 P36406 TRI23_HUMAN ADP-ribosylation factor domain protein 1 isoform 527 ARF-like. interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) TGAGTAGTTCAGTGATTTCTT 0.398 SV2C 22987 broad.mit.edu 37 5 75597266 75597266 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:75597266T>A uc003kei.1 + 12 2030 c.1896T>A c.(1894-1896)AGT>AGA p.S632R NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 632 Extracellular (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TCGGCACCAGTGAATCCATGA 0.498 ARSB 411 broad.mit.edu 37 5 78077720 78077720 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:78077720C>T uc003kfq.2 - 7 2577 c.1291G>A c.(1291-1293)GCT>ACT p.A431T NM_000046 NP_000037 P15848 ARSB_HUMAN arylsulfatase B isoform 1 precursor 431 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity upper_aerodigestive_tract(1) 1 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) CTAATTGCAGCATGGACAGAT 0.473 MTX3 345778 broad.mit.edu 37 5 79279521 79279521 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:79279521G>A uc010jag.2 - 9 952 c.925C>T c.(925-927)CGG>TGG p.R309W MTX3_uc010jah.2_3'UTR|MTX3_uc003kge.3_Missense_Mutation_p.R248W NM_001010891 NP_001010891 Q5HYI7 MTX3_HUMAN metaxin 3 309 protein targeting to mitochondrion mitochondrial outer membrane 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) GGCGAAAGCCGTTGGAAGGAA 0.443 FAM151B 167555 broad.mit.edu 37 5 79837534 79837534 + Silent SNP C C T rs138264758 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:79837534C>T uc003kgv.1 + 6 857 c.714C>T c.(712-714)TCC>TCT p.S238S FAM151B_uc010jal.1_RNA NM_205548 NP_991111 Q6UXP7 F151B_HUMAN hypothetical protein LOC167555 238 0 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) ATAACTATTCCGTTGAAGATT 0.323 RASGRF2 5924 broad.mit.edu 37 5 80521544 80521544 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:80521544G>A uc003kha.1 + 27 3669 c.3669G>A c.(3667-3669)ACG>ACA p.T1223T RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 1223 Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ATGAAGATACGCTATATGAGC 0.468 CKMT2 1160 broad.mit.edu 37 5 80550855 80550855 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:80550855G>A uc003khc.3 + 6 733 c.491G>A c.(490-492)CGG>CAG p.R164Q RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.R164Q|CKMT2_uc003khd.3_Missense_Mutation_p.R164Q|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron NM_001825 NP_001816 P17540 KCRS_HUMAN sarcomeric mitochondrial creatine kinase 164 Phosphagen kinase C-terminal.|ATP. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity 0 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) CTGTCTTCTCGGGTGCGCACT 0.652 SSBP2 23635 broad.mit.edu 37 5 80724431 80724431 + Missense_Mutation SNP A A T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:80724431A>T uc003kho.2 - 16 1240 c.1029T>A c.(1027-1029)AAT>AAA p.N343K RNU5E_uc011cto.1_Intron|SSBP2_uc010jar.2_Missense_Mutation_p.N228K|SSBP2_uc003khn.2_Missense_Mutation_p.N217K|SSBP2_uc003khp.2_Missense_Mutation_p.N351K|SSBP2_uc011ctp.1_Missense_Mutation_p.N323K|SSBP2_uc011ctq.1_Missense_Mutation_p.N321K|SSBP2_uc011ctr.1_Intron NM_012446 NP_036578 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 343 regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) haematopoietic_and_lymphoid_tissue(4)|skin(1) 5 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) GATTTAAGAAATTTCCCCCCA 0.363 TMEM161B 153396 broad.mit.edu 37 5 87502851 87502851 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:87502851T>C uc003kjc.2 - 6 718 c.593A>G c.(592-594)GAA>GGA p.E198G TMEM161B_uc011cty.1_Missense_Mutation_p.E187G|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_Missense_Mutation_p.E65G|TMEM161B_uc011ctx.1_Missense_Mutation_p.E16G NM_153354 NP_699185 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 198 integral to membrane skin(2) 2 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) ATTACCTGTTTCAAGTCCAAA 0.289 ANKRD32 84250 broad.mit.edu 37 5 94030563 94030563 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:94030563C>T uc003kkr.3 + 21 2803 c.2723C>T c.(2722-2724)GCT>GTT p.A908V ANKRD32_uc003kks.2_Missense_Mutation_p.A272V NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 908 ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CAGAGGAATGCTAAGGGAGAA 0.368 ST8SIA4 7903 broad.mit.edu 37 5 100191911 100191911 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:100191911T>G uc003knk.2 - 4 1021 c.693A>C c.(691-693)AAA>AAC p.K231N NM_005668 NP_005659 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide 231 Lumenal (Potential). axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TCTCTCCTCCTTTGACCATGA 0.418 YTHDC2 64848 broad.mit.edu 37 5 112862461 112862461 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:112862461T>C uc003kqn.2 + 4 837 c.654T>C c.(652-654)ACT>ACC p.T218T YTHDC2_uc010jce.1_Silent_p.T218T|YTHDC2_uc010jcf.1_Intron NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 218 Helicase ATP-binding.|ATP (By similarity). ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TAGGAGAAACTGGGTCTGGAA 0.249 LMNB1 4001 broad.mit.edu 37 5 126168436 126168436 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:126168436G>A uc003kud.1 + 10 2030 c.1662G>A c.(1660-1662)GAG>GAA p.E554E LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Silent_p.E344E NM_005573 NP_005564 P20700 LMNB1_HUMAN lamin B1 554 Glu-rich (highly acidic; could be involved in chromatin binding).|Tail. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity kidney(1)|central_nervous_system(1) 2 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) CTGAAGAAGAGGAGGAGGAGG 0.318 FBN2 2201 broad.mit.edu 37 5 127599223 127599223 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:127599223C>T uc003kuu.2 - 63 8525 c.8086G>A c.(8086-8088)GTG>ATG p.V2696M NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2696 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CACTCATTCACGTCGTGGCAG 0.607 SLC27A6 28965 broad.mit.edu 37 5 128365383 128365383 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:128365383C>T uc003kuy.2 + 10 2062 c.1666C>T c.(1666-1668)CGA>TGA p.R556* SLC27A6_uc003kuz.2_Nonsense_Mutation_p.R556* NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 556 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGCTTGTCCACGATTTTTAAG 0.294 ACSL6 23305 broad.mit.edu 37 5 131326646 131326646 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:131326646T>C uc010jdo.1 - 3 293 c.210A>G c.(208-210)GCA>GCG p.A70A ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Silent_p.A95A|ACSL6_uc003kvy.1_Silent_p.A95A|ACSL6_uc003kwb.2_Silent_p.A60A|ACSL6_uc003kvz.1_Silent_p.A35A|ACSL6_uc003kwa.1_Silent_p.A81A|ACSL6_uc003kwc.1_Silent_p.A35A|ACSL6_uc003kwd.1_Silent_p.A70A|ACSL6_uc010jdn.1_Silent_p.A70A NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 70 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGATCGCCGTGCCCCGCCAC 0.607 SLC22A4 6583 broad.mit.edu 37 5 131647935 131647935 + Missense_Mutation SNP G G A rs11568509 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:131647935G>A uc003kwq.2 + 2 640 c.475G>A c.(475-477)GTG>ATG p.V159M SLC22A4_uc010jdq.1_RNA|uc003kwr.3_RNA NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 159 Helical; Name=2; (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CGGCTCCTTCGTGTCCGGGCA 0.577 RAD50 10111 broad.mit.edu 37 5 131926968 131926968 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:131926968T>C uc003kxi.2 + 10 1892 c.1505T>C c.(1504-1506)ATG>ACG p.M502T RAD50_uc003kxh.2_Missense_Mutation_p.M363T NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 502 Potential. DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACCTTAAAAATGGAAGTAATA 0.368 Homologous_recombination PCBD2 84105 broad.mit.edu 37 5 134246093 134246093 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:134246093A>G uc010jdz.2 + 2 173 c.153A>G c.(151-153)GGA>GGG p.G51G PCBD2_uc011cxw.1_Silent_p.G51G NM_032151 NP_115527 Q9H0N5 PHS2_HUMAN pterin-4 alpha-carbinolamine dehydratase 2 51 positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process 4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AAGCAGCAGGATGGTCGGAAT 0.393 DNAJC18 202052 broad.mit.edu 37 5 138758500 138758500 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:138758500A>G uc003len.2 - 6 681 c.676T>C c.(676-678)TAT>CAT p.Y226H DNAJC18_uc010jff.2_Missense_Mutation_p.Y164H NM_152686 NP_689899 Q9H819 DJC18_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 18 226 protein folding integral to membrane heat shock protein binding|unfolded protein binding ovary(1)|kidney(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AATGCAGAATATGTAGTCTGA 0.239 NRG2 9542 broad.mit.edu 37 5 139260458 139260458 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:139260458C>T uc003lex.1 - 3 1199 c.974G>A c.(973-975)CGG>CAG p.R325Q NRG2_uc003lev.1_Missense_Mutation_p.R325Q|NRG2_uc003lew.1_Missense_Mutation_p.R325Q|NRG2_uc003ley.1_Missense_Mutation_p.R325Q NM_004883 NP_004874 O14511 NRG2_HUMAN neuregulin 2 isoform 1 325 Ig-like C2-type.|Extracellular (Potential). embryo development extracellular region|integral to membrane|plasma membrane growth factor activity pancreas(2)|breast(2)|ovary(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGTAAAGCCGGCCCCGGAC 0.632 PCDHA1 56147 broad.mit.edu 37 5 140167635 140167635 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:140167635C>T uc003lhb.2 + 1 1760 c.1760C>T c.(1759-1761)GCG>GTG p.A587V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.A587V NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 587 Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGTGGGTGCGGGTCATGTG 0.672 PCDHA2 56146 broad.mit.edu 37 5 140176220 140176220 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:140176220C>T uc003lhd.2 + 1 1777 c.1671C>T c.(1669-1671)GAC>GAT p.D557D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.D557D|PCDHA2_uc011czy.1_Silent_p.D557D NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 557 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGCTGGACGAGAACGACA 0.687 PCDHA8 56140 broad.mit.edu 37 5 140222221 140222221 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:140222221G>A uc003lhs.2 + 1 1315 c.1315G>A c.(1315-1317)GCC>ACC p.A439T 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_uc003lhr.1_Missense_Mutation_p.A439T NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 439 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGGCCACCGCCAGCTTGTC 0.667 PCDHA12 56137 broad.mit.edu 37 5 140256301 140256301 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:140256301G>A uc003lic.2 + 1 1371 c.1244G>A c.(1243-1245)CGC>CAC p.R415H 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_Missense_Mutation_p.R415H NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 415 Cadherin 4.|Extracellular (Potential). 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) GCCCTGGACCGCGAGAGCGTG 0.612 PCDHB2 56133 broad.mit.edu 37 5 140474624 140474624 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:140474624G>A uc003lil.2 + 1 388 c.250G>A c.(250-252)GGG>AGG p.G84R PCDHB2_uc003lim.1_Intron NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 84 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGGCAGACCGGGGATTTGTT 0.507 PCDHB7 56129 broad.mit.edu 37 5 140554636 140554636 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:140554636C>T uc003lit.2 + 1 2394 c.2220C>T c.(2218-2220)ACC>ACT p.T740T PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 740 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAGCGGCACCGGGACCCTAT 0.617 PCDHB8 56128 broad.mit.edu 37 5 140558582 140558582 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:140558582A>G uc011dai.1 + 1 1153 c.967A>G c.(967-969)AGA>GGA p.R323G PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 323 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TATCGAGGCGAGAGATGCTGG 0.413 PCDHGA1 56114 broad.mit.edu 37 5 140711018 140711018 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:140711018C>A uc003lji.1 + 1 767 c.767C>A c.(766-768)CCG>CAG p.P256Q PCDHGA1_uc011dan.1_Missense_Mutation_p.P256Q NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 256 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAAACGTGCCGCTGGGTACT 0.493 PCDHGA6 56109 broad.mit.edu 37 5 140753898 140753898 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:140753898G>A uc003ljy.1 + 1 248 c.248G>A c.(247-249)AGC>AAC p.S83N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.S83N NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 83 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAAACGGCAGCTTGGTCACC 0.567 PCDHGB6 56100 broad.mit.edu 37 5 140789013 140789013 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:140789013C>T uc003lkj.1 + 1 1244 c.1244C>T c.(1243-1245)ACA>ATA p.T415I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.T415I NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 415 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGAGCAGACACCAGAATAC 0.458 PCDHGB7 56099 broad.mit.edu 37 5 140799786 140799786 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:140799786T>C uc003lkn.1 + 1 2505 c.2360T>C c.(2359-2361)CTA>CCA p.L787P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.L787P|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 787 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATAGCATGCTACTGGCTAGC 0.333 DIAPH1 1729 broad.mit.edu 37 5 140955848 140955848 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:140955848A>G uc003llb.3 - 14 1551 c.1410T>C c.(1408-1410)GAT>GAC p.D470D DIAPH1_uc003llc.3_Silent_p.D461D|DIAPH1_uc010jgc.1_5'Flank NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 470 Potential. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTTGTCTTATCAATCATTT 0.373 KCTD16 57528 broad.mit.edu 37 5 143586874 143586874 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:143586874C>A uc003lnm.1 + 3 1226 c.597C>A c.(595-597)TCC>TCA p.S199S KCTD16_uc003lnn.1_Silent_p.S199S NM_020768 NP_065819 Q68DU8 KCD16_HUMAN potassium channel tetramerisation domain 199 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(2)|ovary(1)|skin(1) 4 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GAAGGATTTCCTTGGCAAAAG 0.473 PLAC8L1 153770 broad.mit.edu 37 5 145483816 145483816 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:145483816A>G uc003lnv.2 - 1 131 c.59T>C c.(58-60)ATA>ACA p.I20T PLAC8L1_uc011dbp.1_RNA NM_001029869 NP_001025040 A1L4L8 PL8L1_HUMAN PLAC8-like 1 20 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGTGAGTATATGTTGAGTAA 0.403 SPINK5 11005 broad.mit.edu 37 5 147473990 147473990 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:147473990G>A uc003lox.2 + 9 813 c.740G>A c.(739-741)CGT>CAT p.R247H SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.R219H|SPINK5_uc010jgr.2_Missense_Mutation_p.R228H|SPINK5_uc003low.2_Missense_Mutation_p.R247H|SPINK5_uc003loy.2_Missense_Mutation_p.R247H NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 247 Kazal-like 4. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCCAGTCCGTGGCCCTGAC 0.403 SPINK14 408187 broad.mit.edu 37 5 147554938 147554938 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:147554938T>C uc003loz.1 + 4 271 c.271T>C c.(271-273)TTT>CTT p.F91L NM_001001325 NP_001001325 Q6IE38 ISK14_HUMAN Kazal type serine protease inhibitor 5-like 2 91 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity 0 AAGAATCAGGTTTTACCATGA 0.269 HTR4 3360 broad.mit.edu 37 5 147928374 147928374 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:147928374C>T uc003lpn.2 - 4 374 c.210G>A c.(208-210)TCG>TCA p.S70S HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Silent_p.S70S|HTR4_uc003lpj.1_Silent_p.S70S|HTR4_uc003lpk.2_Silent_p.S70S|HTR4_uc011dby.1_Silent_p.S70S|HTR4_uc003lpl.2_Silent_p.S70S|HTR4_uc003lpm.2_Silent_p.S70S|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Silent_p.S70S NM_000870 NP_000861 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform b 70 Helical; Name=2; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TCACCAGCACCGAAACCAGCA 0.383 SH3TC2 79628 broad.mit.edu 37 5 148392271 148392271 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:148392271A>G uc003lpu.2 - 13 3232 c.3080T>C c.(3079-3081)ATC>ACC p.I1027T SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.I671T|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.I574T|SH3TC2_uc010jgx.2_Missense_Mutation_p.I1020T NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1027 TPR 4. binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCTCCTTGATGCATGTGAG 0.577 SH3TC2 79628 broad.mit.edu 37 5 148406142 148406142 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:148406142T>C uc003lpu.2 - 12 3198 c.3046A>G c.(3046-3048)ACC>GCC p.T1016A SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.T660A|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.T563A|SH3TC2_uc010jgx.2_Missense_Mutation_p.T1009A|SH3TC2_uc003lpv.1_3'UTR|SH3TC2_uc011dbz.1_3'UTR NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1016 TPR 4. binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCTGGCGGTATTTAGGTTC 0.542 SH3TC2 79628 broad.mit.edu 37 5 148407408 148407408 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:148407408G>A uc003lpu.2 - 11 2039 c.1887C>T c.(1885-1887)AGC>AGT p.S629S SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.S273S|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Silent_p.S176S|SH3TC2_uc010jgx.2_Silent_p.S622S|SH3TC2_uc003lpv.1_Silent_p.S176S|SH3TC2_uc011dbz.1_Silent_p.S514S NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 629 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCCAGCGGGCTGCTGCCCA 0.672 FAT2 2196 broad.mit.edu 37 5 150924599 150924599 + Missense_Mutation SNP C C T rs145039507 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:150924599C>T uc003lue.3 - 9 6102 c.6089G>A c.(6088-6090)CGG>CAG p.R2030Q GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2030 Extracellular (Potential).|Cadherin 17. 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) CTGCTGCTCCCGGTCAAACGC 0.512 FAT2 2196 broad.mit.edu 37 5 150930358 150930358 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:150930358A>G uc003lue.3 - 7 4384 c.4371T>C c.(4369-4371)GTT>GTC p.V1457V GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1457 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) TGTCCTGGGGAACTCTGACTT 0.527 NMUR2 56923 broad.mit.edu 37 5 151784474 151784474 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:151784474G>A uc003luv.2 - 1 367 c.201C>T c.(199-201)TGC>TGT p.C67C NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 67 Helical; Name=1; (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GAATCACCAGGCACACCAGGA 0.587 RNF145 153830 broad.mit.edu 37 5 158621757 158621757 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:158621757G>T uc003lxp.2 - 3 573 c.260C>A c.(259-261)GCT>GAT p.A87D RNF145_uc011ddy.1_Missense_Mutation_p.A101D|RNF145_uc003lxo.1_Missense_Mutation_p.A115D|RNF145_uc011ddz.1_Missense_Mutation_p.A104D|RNF145_uc010jiq.1_Missense_Mutation_p.A117D|RNF145_uc011dea.1_Missense_Mutation_p.A103D NM_144726 NP_653327 Q96MT1 RN145_HUMAN ring finger protein 145 87 Helical; (Potential). integral to membrane zinc ion binding ovary(3)|lung(1)|skin(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGGAGCAGAGCAGTCAAAAA 0.343 CCNJL 79616 broad.mit.edu 37 5 159738871 159738871 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:159738871G>A uc003lyb.1 - 2 312 c.60C>T c.(58-60)CGC>CGT p.R20R CCNJL_uc011dee.1_Silent_p.R20R|CCNJL_uc003lyc.1_Intron|CCNJL_uc011def.1_Silent_p.R20R NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN cyclin J-like 20 Cyclin N-terminal. nucleus 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGACCTTCTCGCGCAGGGTGC 0.637 MAT2B 27430 broad.mit.edu 37 5 162943622 162943622 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:162943622A>G uc003lzk.2 + 5 733 c.625A>G c.(625-627)AAG>GAG p.K209E MAT2B_uc003lzj.2_Missense_Mutation_p.K198E|MAT2B_uc003lzl.1_Missense_Mutation_p.K209E|MAT2B_uc003lzm.2_5'Flank NM_013283 NP_037415 Q9NZL9 MAT2B_HUMAN methionine adenosyltransferase II, beta isoform 209 extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol|methionine adenosyltransferase complex|nucleus dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding upper_aerodigestive_tract(1) 1 Renal(175;0.000281) Medulloblastoma(196;0.0208)|all_neural(177;0.0765) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GTTCAGCAACAAGTCAGCAAA 0.473 MSX2 4488 broad.mit.edu 37 5 174156184 174156184 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:174156184C>T uc003mcy.2 + 2 490 c.402C>T c.(400-402)TGC>TGT p.C134C NM_002449 NP_002440 P35548 MSX2_HUMAN msh homeobox 2 134 cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTACCACCTGCACCCTGAGGA 0.498 DDX41 51428 broad.mit.edu 37 5 176942974 176942974 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:176942974C>A uc003mho.2 - 5 411 c.390G>T c.(388-390)AAG>AAT p.K130N DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_Translation_Start_Site|DDX41_uc003mhp.2_Translation_Start_Site|DDX41_uc003mhq.1_Translation_Start_Site NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN DEAD-box protein abstrakt 130 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TAGCCATCTCCTTCACTGACA 0.512 ZNF454 285676 broad.mit.edu 37 5 178392951 178392951 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:178392951A>G uc003mjo.1 + 5 1817 c.1546A>G c.(1546-1548)AGA>GGA p.R516G ZNF454_uc010jkz.1_Missense_Mutation_p.R516G NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 516 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TCAGCATCAGAGACATCATAT 0.383 C5orf45 51149 broad.mit.edu 37 5 179271187 179271187 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:179271187C>T uc003mla.2 - 4 300 c.256G>A c.(256-258)GTG>ATG p.V86M C5orf45_uc003mky.2_Missense_Mutation_p.V83M|C5orf45_uc011dgt.1_Missense_Mutation_p.V86M|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_Intron|C5orf45_uc003mlb.2_Translation_Start_Site NM_016175 NP_057259 Q6NTE8 CE045_HUMAN hypothetical protein LOC51149 isoform 1 86 0 TGGTGTCCCACGTTTTCTTCT 0.483 TBC1D9B 23061 broad.mit.edu 37 5 179290918 179290918 + Missense_Mutation SNP C C T rs113335971 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:179290918C>T uc003mlh.2 - 22 3320 c.3283G>A c.(3283-3285)GCA>ACA p.A1095T TBC1D9B_uc003mli.2_Missense_Mutation_p.A1078T|TBC1D9B_uc003mlj.2_Missense_Mutation_p.A1077T|TBC1D9B_uc003mlf.2_Missense_Mutation_p.A169T|TBC1D9B_uc003mlg.2_Missense_Mutation_p.A254T|TBC1D9B_uc011dgv.1_Missense_Mutation_p.A254T NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 1095 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCCTGGCTGCGTCCTGATGC 0.647 RREB1 6239 broad.mit.edu 37 6 7226757 7226757 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:7226757G>A uc003mxc.2 + 9 1155 c.765G>A c.(763-765)GCG>GCA p.A255A RREB1_uc003mxb.2_Silent_p.A255A|RREB1_uc010jnx.2_Silent_p.A255A NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 255 C2H2-type 5. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GTCACAACGCGCTTGTCCACA 0.498 RNF182 221687 broad.mit.edu 37 6 13977897 13977897 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:13977897C>T uc003nbe.2 + 3 965 c.547C>T c.(547-549)CGG>TGG p.R183W RNF182_uc003nbf.2_Missense_Mutation_p.R183W|RNF182_uc003nbg.2_Missense_Mutation_p.R183W NM_152737 NP_689950 Q8N6D2 RN182_HUMAN ring finger protein 182 183 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) GACATCCATCCGGGTGTTAGT 0.488 ATXN1 6310 broad.mit.edu 37 6 16306697 16306697 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:16306697T>C uc003nbt.2 - 9 3282 c.2311A>G c.(2311-2313)AAG>GAG p.K771E ATXN1_uc010jpi.2_Missense_Mutation_p.K771E|ATXN1_uc010jpj.1_RNA NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 771 Interaction with USP7. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CACCTCCTCTTCCTCGTTGCC 0.532 KIF13A 63971 broad.mit.edu 37 6 17826310 17826310 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:17826310C>T uc003ncg.3 - 15 1683 c.1578G>A c.(1576-1578)TGG>TGA p.W526* KIF13A_uc003ncf.2_Nonsense_Mutation_p.W526*|KIF13A_uc003nch.3_Nonsense_Mutation_p.W526*|KIF13A_uc003nci.3_Nonsense_Mutation_p.W526*|KIF13A_uc003ncj.2_Nonsense_Mutation_p.W202* NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 526 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GGTCACCATGCCACAGCTGGG 0.418 NHLRC1 378884 broad.mit.edu 37 6 18122083 18122083 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:18122083C>T uc003ncl.1 - 1 769 c.755G>A c.(754-756)CGG>CAG p.R252Q NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 252 NHL 4. proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) TTCAGTTCTCCGAAGGACCCC 0.627 GPLD1 2822 broad.mit.edu 37 6 24460553 24460553 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:24460553T>C uc003ned.1 - 12 1073 c.962A>G c.(961-963)AAC>AGC p.N321S GPLD1_uc010jpr.1_Missense_Mutation_p.N158S|GPLD1_uc010jps.1_Missense_Mutation_p.N321S NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 321 extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 TTCAGTATAGTTTATATTCCT 0.363 SLC17A2 10246 broad.mit.edu 37 6 25914895 25914895 + Nonsense_Mutation SNP A A T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:25914895A>T uc011dkb.1 - 10 1298 c.1215T>A c.(1213-1215)TAT>TAA p.Y405* SLC17A2_uc011dkc.1_Missense_Mutation_p.M356K|SLC17A2_uc003nfl.2_Missense_Mutation_p.M356K O00624 NPT3_HUMAN SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2; 405 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity ovary(1) 1 GGAAACTTGCATATCTGTGGG 0.428 ZNF165 7718 broad.mit.edu 37 6 28053645 28053645 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:28053645A>C uc003nkg.2 + 3 1471 c.387A>C c.(385-387)AGA>AGC p.R129S ZNF165_uc003nkh.2_Missense_Mutation_p.R129S|ZNF165_uc003nki.3_Missense_Mutation_p.R129S NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 129 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ATTTGGAGAGAGGCACTGATG 0.522 GABBR1 2550 broad.mit.edu 37 6 29589896 29589896 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:29589896G>A uc003nmt.3 - 9 1386 c.1050C>T c.(1048-1050)CCC>CCT p.P350P GABBR1_uc003nmp.3_Silent_p.P233P|GABBR1_uc003nms.3_Silent_p.P233P|GABBR1_uc003nmu.3_Silent_p.P288P|GABBR1_uc011dlr.1_Silent_p.P173P|GABBR1_uc011dls.1_Silent_p.P350P NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 350 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.P350L(1) ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) GGTTTTTGACGGGCACAGCTG 0.557 BAT2 7916 broad.mit.edu 37 6 31602535 31602535 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:31602535T>C uc003nvb.3 + 21 5190 c.4941T>C c.(4939-4941)AGT>AGC p.S1647S BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.S1647S NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1647 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 CTCAGATGAGTCAGTCTGACA 0.552 CLIC1 1192 broad.mit.edu 37 6 31701700 31701700 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:31701700T>C uc003nwr.2 - 3 452 c.188A>G c.(187-189)CAG>CGG p.Q63R CLIC1_uc003rje.2_Missense_Mutation_p.Q63R NM_001288 NP_001279 O00299 CLIC1_HUMAN chloride intracellular channel 1 63 Required for insertion into the membrane. Q -> E (in Ref. 1; AAC25675 and 3; AAD26137). signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity ovary(1)|central_nervous_system(1) 2 GAATGGGAGCTGCCCCCCTGG 0.562 HLA-DMA 3108 broad.mit.edu 37 6 32917066 32917066 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:32917066G>A uc003ocm.2 - 4 849 c.763C>T c.(763-765)CGG>TGG p.R255W NM_006120 NP_006111 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM 255 integral to membrane|MHC class II protein complex 0 CAAGGCTTCCGGAAGTAGATG 0.567 HLA-DOA 3111 broad.mit.edu 37 6 32977255 32977255 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:32977255G>A uc003ocr.2 - 1 135 c.59C>T c.(58-60)CCG>CTG p.P20L HLA-DOA_uc010juj.2_5'UTR|HLA-DOA_uc010jui.2_Missense_Mutation_p.P20L NM_002119 NP_002110 P06340 DOA_HUMAN major histocompatibility complex, class II, DO 20 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 TGCCTCCTGCGGGCTCAGGAG 0.612 HLA-DPB1 3115 broad.mit.edu 37 6 33048483 33048483 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:33048483C>T uc003ocu.1 + 2 194 c.135C>T c.(133-135)TAC>TAT p.Y45Y HLA-DPA1_uc003oct.1_5'UTR|HLA-DPB1_uc011dqn.1_RNA|HLA-DPB1_uc011dqo.1_RNA|HLA-DPB1_uc011dqp.1_Silent_p.Y44Y|HLA-DPB1_uc011dqq.1_Translation_Start_Site NM_002121 NP_002112 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP 45 Extracellular (Potential).|Beta-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex ovary(1) 1 AGGAATGCTACGCGTTTAATG 0.597 FKBP5 2289 broad.mit.edu 37 6 35547992 35547992 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:35547992T>C uc011dte.1 - 9 1050 c.847A>G c.(847-849)AAA>GAA p.K283E FKBP5_uc003okx.2_Missense_Mutation_p.K283E|FKBP5_uc011dtf.1_Missense_Mutation_p.K104E|FKBP5_uc003oky.2_Missense_Mutation_p.K283E NM_001145776 NP_001139248 Q13451 FKBP5_HUMAN FK506 binding protein 5 isoform 1 283 TPR 1. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 TGCATGTATTTGCCTCCCTAG 0.423 LHFPL5 222662 broad.mit.edu 37 6 35773711 35773711 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:35773711C>A uc003olg.1 + 1 641 c.264C>A c.(262-264)TCC>TCA p.S88S NM_182548 NP_872354 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 88 integral to membrane skin(1) 1 ACTTCTCCTCCATCCCCTCTA 0.557 SLC26A8 116369 broad.mit.edu 37 6 35960350 35960350 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:35960350G>A uc003olm.2 - 6 840 c.729C>T c.(727-729)TCC>TCT p.S243S SLC26A8_uc003oln.2_Silent_p.S243S|SLC26A8_uc003oll.2_Intron NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 243 Helical; (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 AAGTCAGCTGGGACAGCATGA 0.453 BRPF3 27154 broad.mit.edu 37 6 36168494 36168494 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:36168494C>T uc003olv.3 + 2 619 c.395C>T c.(394-396)CCG>CTG p.P132L BRPF3_uc010jwb.2_Missense_Mutation_p.P132L|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.P132L NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 132 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 GAAGCACCCCCGCTGCCTGCT 0.567 DNAH8 1769 broad.mit.edu 37 6 38781845 38781845 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:38781845G>A uc003ooe.1 + 23 3222 c.2622G>A c.(2620-2622)AAG>AAA p.K874K NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ATGGGCGAAAGCAGTCAGAAG 0.323 TCTE1 202500 broad.mit.edu 37 6 44250020 44250020 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:44250020C>T uc003oxi.2 - 4 1279 c.1123G>A c.(1123-1125)GAG>AAG p.E375K SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 375 LRR 3. ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCCTCATCCTCGATGCAGTTG 0.612 RUNX2 860 broad.mit.edu 37 6 45405710 45405710 + Missense_Mutation SNP G G A rs147009083 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:45405710G>A uc011dvx.1 + 5 817 c.607G>A c.(607-609)GTC>ATC p.V203I RUNX2_uc011dvy.1_Missense_Mutation_p.V203I|RUNX2_uc003oxt.2_Missense_Mutation_p.V189I NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 203 Runt. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 GACCATAACCGTCTTCACAAA 0.393 HCRTR2 3062 broad.mit.edu 37 6 55142277 55142277 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:55142277G>A uc003pcl.2 + 5 1177 c.862G>A c.(862-864)GCT>ACT p.A288T HCRTR2_uc010jzv.2_RNA NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 288 Cytoplasmic (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CCGGATGAGCGCTGTGGCGGC 0.502 DST 667 broad.mit.edu 37 6 56496731 56496731 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:56496731G>T uc003pdf.2 - 28 3842 c.3814C>A c.(3814-3816)CTG>ATG p.L1272M DST_uc003pcz.3_Missense_Mutation_p.L1094M|DST_uc011dxj.1_Missense_Mutation_p.L1123M|DST_uc011dxk.1_Missense_Mutation_p.L1134M|DST_uc003pcy.3_Missense_Mutation_p.L768M|DST_uc003pdb.2_Missense_Mutation_p.L768M|DST_uc003pdc.3_Missense_Mutation_p.L768M|DST_uc003pdd.3_Missense_Mutation_p.L768M NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1094 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTCTTTCCAGGGGAGTTCGA 0.383 COL9A1 1297 broad.mit.edu 37 6 70990716 70990716 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:70990716C>T uc003pfg.3 - 9 1062 c.903G>A c.(901-903)CCG>CCA p.P301P COL9A1_uc003pfe.3_5'Flank|COL9A1_uc003pff.3_Silent_p.P58P NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 301 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CCGGGGGGCCCGGGGGGCCCT 0.572 COL12A1 1303 broad.mit.edu 37 6 75861629 75861629 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:75861629T>C uc003phs.2 - 20 4120 c.3954A>G c.(3952-3954)GCA>GCG p.A1318A COL12A1_uc003pht.2_Silent_p.A154A NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1318 VWFA 3. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TCTTTGAAGGTGCTTCAACAT 0.473 COL12A1 1303 broad.mit.edu 37 6 75899338 75899338 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:75899338C>T uc003phs.2 - 6 754 c.588G>A c.(586-588)CAG>CAA p.Q196Q COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'Flank NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 196 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TTTGGTAGTACTGATTTAAGT 0.358 TTK 7272 broad.mit.edu 37 6 80718203 80718203 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:80718203T>A uc003pjc.2 + 4 537 c.463T>A c.(463-465)TCA>ACA p.S155T TTK_uc003pjb.3_Missense_Mutation_p.S155T NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 155 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) ATTTGAACTGTCACAAGGTAA 0.299 UBE2CBP 90025 broad.mit.edu 37 6 83667139 83667139 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:83667139G>A uc003pjp.2 - 9 1149 c.1041C>T c.(1039-1041)AGC>AGT p.S347S UBE2CBP_uc011dyx.1_RNA NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN ubiquitin-conjugating enzyme E2C binding 347 cytoplasm ligase activity ovary(1) 1 all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548) BRCA - Breast invasive adenocarcinoma(397;0.0944) GCGGGTGGACGCTGATGTCAC 0.423 PGM3 5238 broad.mit.edu 37 6 83884176 83884176 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:83884176T>C uc003pjv.2 - 10 1199 c.1159A>G c.(1159-1161)ATA>GTA p.I387V PGM3_uc003pjw.2_Missense_Mutation_p.I306V|PGM3_uc011dyz.1_Missense_Mutation_p.I415V NM_015599 NP_056414 O95394 AGM1_HUMAN phosphoglucomutase 3 387 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity 0 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) GATTGTTTTATCTTCATTTCA 0.348 ZNF292 23036 broad.mit.edu 37 6 87964590 87964590 + Missense_Mutation SNP C C G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:87964590C>G uc003plm.3 + 8 1284 c.1243C>G c.(1243-1245)CAG>GAG p.Q415E NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TCAGCCAGACCAGAAATATGA 0.383 GABRR2 2570 broad.mit.edu 37 6 90024926 90024927 + Missense_Mutation DNP CT CT GG TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:90024926_90024927CT>GG uc003pnb.2 - 1 41_42 c.33_34AG>CC c.(31-36)ACAGGC>ACCCGC p.G12R NM_002043 NP_002034 P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 2 12 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TTCCAGTAGCCTGTGGCAGAGC 0.515 MDN1 23195 broad.mit.edu 37 6 90494779 90494779 + Nonsense_Mutation SNP A A T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:90494779A>T uc003pnn.1 - 9 1517 c.1401T>A c.(1399-1401)TAT>TAA p.Y467* MDN1_uc003pno.1_Translation_Start_Site|MDN1_uc003pnp.1_Nonsense_Mutation_p.Y467* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 467 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTTGGTCCAATATTTGTCTA 0.443 USP45 85015 broad.mit.edu 37 6 99958034 99958034 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:99958034A>G uc003ppx.2 - 2 596 c.63T>C c.(61-63)ACT>ACC p.T21T USP45_uc003ppw.2_5'Flank|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Silent_p.T21T|USP45_uc003ppz.2_Silent_p.T21T|USP45_uc003pqa.2_Silent_p.T21T NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 21 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|breast(1) 2 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) CATGAGGTACAGTAGGCCTTT 0.343 SIM1 6492 broad.mit.edu 37 6 100838636 100838636 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:100838636C>T uc003pqj.3 - 11 2109 c.1902G>A c.(1900-1902)CAG>CAA p.Q634Q SIM1_uc010kcu.2_Silent_p.Q634Q NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 634 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCTCTCTCTGCTGGATATGGT 0.488 ASCC3 10973 broad.mit.edu 37 6 101075830 101075830 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:101075830A>G uc003pqk.2 - 28 4738 c.4409T>C c.(4408-4410)GTA>GCA p.V1470A NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1470 Helicase ATP-binding 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TGTTCGAGATACAATGACCTC 0.408 SCML4 256380 broad.mit.edu 37 6 108066255 108066255 + Silent SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:108066255G>T uc010kdf.2 - 5 831 c.580C>A c.(580-582)CGA>AGA p.R194R SCML4_uc003prz.3_Silent_p.R136R|SCML4_uc011eam.1_Silent_p.R194R|SCML4_uc003psa.3_Silent_p.R165R NM_198081 NP_932347 Q8N228 SCML4_HUMAN sex comb on midleg-like 4 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) AGGAGGCTTCGGCACAGCTTG 0.587 REV3L 5980 broad.mit.edu 37 6 111710360 111710360 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:111710360G>A uc003puy.3 - 7 1134 c.811C>T c.(811-813)CGG>TGG p.R271W REV3L_uc003pux.3_Missense_Mutation_p.R193W|REV3L_uc003puz.3_Missense_Mutation_p.R193W NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 271 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTTCTTCGCCGTTGCTTTTCA 0.358 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage DSE 29940 broad.mit.edu 37 6 116747852 116747852 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:116747852C>A uc003pws.2 + 3 726 c.532C>A c.(532-534)CTT>ATT p.L178I DSE_uc011ebf.1_Missense_Mutation_p.L178I|DSE_uc011ebg.1_Missense_Mutation_p.L197I|DSE_uc003pwt.2_Missense_Mutation_p.L178I NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 178 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) GGAGAAGTTTCTTGAAGTGAT 0.463 STX7 8417 broad.mit.edu 37 6 132781989 132781989 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:132781989G>A uc003qdg.2 - 10 944 c.694C>T c.(694-696)CGC>TGC p.R232C STX7_uc011ecg.1_RNA|STX7_uc011ech.1_Missense_Mutation_p.R57C NM_003569 NP_003560 O15400 STX7_HUMAN syntaxin 7 232 Cytoplasmic (Potential). intracellular protein transport|post-Golgi vesicle-mediated transport early endosome membrane|integral to membrane SNAP receptor activity 0 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) CTGGATTTGCGCTGCAGACGC 0.353 TNFAIP3 7128 broad.mit.edu 37 6 138196150 138196150 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:138196150C>T uc003qhr.2 + 3 530 c.464C>T c.(463-465)ACG>ATG p.T155M TNFAIP3_uc003qhs.2_Missense_Mutation_p.T155M NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 155 TRAF-binding.|OTU. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22)|p.T155T(1) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) TTTGTTGAAACGGGGCTTTGC 0.512 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma SHPRH 257218 broad.mit.edu 37 6 146243472 146243472 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:146243472A>G uc003qlf.2 - 20 4131 c.3732T>C c.(3730-3732)TGT>TGC p.C1244C SHPRH_uc003qld.2_Silent_p.C1248C|SHPRH_uc003qle.2_Silent_p.C1248C|SHPRH_uc003qlg.1_Silent_p.C800C|SHPRH_uc003qlh.2_Silent_p.C169C|SHPRH_uc003qli.1_Silent_p.C169C NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 1244 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CATCAGCTTTACAAAAGACAC 0.299 RAB32 10981 broad.mit.edu 37 6 146865142 146865142 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:146865142C>T uc003qln.1 + 1 315 c.135C>T c.(133-135)TAC>TAT p.Y45Y NM_006834 NP_006825 Q13637 RAB32_HUMAN RAB32, member RAS oncogene family 45 protein transport|small GTPase mediated signal transduction mitochondrion GTP binding 0 Ovarian(120;0.142) OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608) TCAAGCGCTACGTCCACCAGC 0.557 ZC3H12D 340152 broad.mit.edu 37 6 149777945 149777945 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:149777945G>A uc003qmn.1 - 3 607 c.537C>T c.(535-537)GAC>GAT p.D179D PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Silent_p.D179D|ZC3H12D_uc010kid.2_Silent_p.D179D NM_207360 NP_997243 A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D 179 cytoplasm|nucleus endonuclease activity|nucleic acid binding|zinc ion binding 0 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) TGTAGCGGTCGTCGTAGCAGA 0.657 SYNE1 23345 broad.mit.edu 37 6 152718029 152718029 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:152718029T>G uc010kiw.2 - 50 8039 c.7437A>C c.(7435-7437)AAA>AAC p.K2479N SYNE1_uc003qot.3_Missense_Mutation_p.K2486N|SYNE1_uc003qou.3_Missense_Mutation_p.K2479N|SYNE1_uc010kjb.1_Missense_Mutation_p.K2462N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2479 Spectrin 4.|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) TGACAATTTGTTTAGACAAAT 0.383 HNSCC(10;0.0054) TIAM2 26230 broad.mit.edu 37 6 155578187 155578187 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:155578187G>A uc003qqb.2 + 29 6311 c.5038G>A c.(5038-5040)GTC>ATC p.V1680I TIAM2_uc003qqe.2_Missense_Mutation_p.V1680I|TIAM2_uc010kjj.2_Missense_Mutation_p.V1242I|TIAM2_uc003qqf.2_Missense_Mutation_p.V1056I|TIAM2_uc011efl.1_Missense_Mutation_p.V1024I|TIAM2_uc003qqg.2_Missense_Mutation_p.V992I|TIAM2_uc003qqh.2_Missense_Mutation_p.V605I|uc003qqi.1_5'Flank NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1680 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGAATTCAGTGTCCAGAGTTT 0.428 ARID1B 57492 broad.mit.edu 37 6 157405929 157405929 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:157405929C>T uc003qqn.2 + 5 2110 c.1958C>T c.(1957-1959)GCG>GTG p.A653V ARID1B_uc003qqo.2_Missense_Mutation_p.A666V|ARID1B_uc003qqp.2_Missense_Mutation_p.A653V|ARID1B_uc003qqq.1_Missense_Mutation_p.A95V NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 711 Ser-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TCCCCACATGCGTCCCCTCAT 0.612 TULP4 56995 broad.mit.edu 37 6 158923930 158923930 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:158923930G>A uc003qrf.2 + 13 4592 c.3235G>A c.(3235-3237)GAC>AAC p.D1079N TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 1079 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) CAGCGCCCGCGACCGCACCGA 0.687 RPS6KA2 6196 broad.mit.edu 37 6 166864694 166864694 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:166864694T>C uc003qvb.1 - 13 1322 c.1103A>G c.(1102-1104)AAC>AGC p.N368S RPS6KA2_uc011ego.1_Missense_Mutation_p.N279S|RPS6KA2_uc010kkl.1_Missense_Mutation_p.N279S|RPS6KA2_uc003qvc.1_Missense_Mutation_p.N376S|RPS6KA2_uc003qvd.1_Missense_Mutation_p.N393S NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 368 AGC-kinase C-terminal. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) GTGATGAGCGTTTGCACTCGG 0.532 KIF25 3834 broad.mit.edu 37 6 168430309 168430309 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:168430309G>T uc003qwk.1 + 2 306 c.44G>T c.(43-45)AGG>ATG p.R15M KIF25_uc010kkt.1_RNA|KIF25_uc003qwl.1_Missense_Mutation_p.R15M NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 15 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) AAGCAGGCCAGGCCTGGGTCT 0.587 INTS1 26173 broad.mit.edu 37 7 1527082 1527082 + Silent SNP C C G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:1527082C>G uc003skn.2 - 20 2621 c.2520G>C c.(2518-2520)GGG>GGC p.G840G INTS1_uc003skp.1_Silent_p.G187G NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 840 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TCCGGGGGGGCCCCCTGAGGG 0.677 EIF3B 8662 broad.mit.edu 37 7 2418770 2418770 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:2418770A>G uc003slx.2 + 17 2317 c.2234A>G c.(2233-2235)GAA>GGA p.E745G EIF3B_uc003sly.2_Missense_Mutation_p.E745G|EIF3B_uc003sma.2_Missense_Mutation_p.E473G|EIF3B_uc003smb.2_RNA NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 745 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CATGCATAGGAATTGGTGGAG 0.547 SDK1 221935 broad.mit.edu 37 7 4218194 4218194 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:4218194G>A uc003smx.2 + 35 5213 c.5074G>A c.(5074-5076)GTG>ATG p.V1692M SDK1_uc010kso.2_Missense_Mutation_p.V948M|SDK1_uc003smy.2_Missense_Mutation_p.V179M NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1692 Fibronectin type-III 10. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAGCGCGCCCGTGGAGGTCTT 0.592 GLCCI1 113263 broad.mit.edu 37 7 8062115 8062115 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:8062115A>G uc003srk.2 + 3 1171 c.612A>G c.(610-612)ACA>ACG p.T204T NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 204 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) ttttaaaGACACCTAGCTGTT 0.343 ICA1 3382 broad.mit.edu 37 7 8198199 8198199 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:8198199C>T uc003srm.2 - 7 730 c.663G>A c.(661-663)GCG>GCA p.A221A ICA1_uc010ktr.2_Silent_p.A221A|ICA1_uc003srl.2_Silent_p.A209A|ICA1_uc003srn.3_Silent_p.A147A|ICA1_uc003srp.3_Silent_p.A220A|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Silent_p.A221A|ICA1_uc003srr.2_Silent_p.A220A|ICA1_uc003sro.3_Silent_p.A221A|ICA1_uc011jxg.1_Silent_p.A221A|ICA1_uc003srs.1_Silent_p.A221A NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 221 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TGCATCTGCTCGCTCCAAGAA 0.373 PHF14 9678 broad.mit.edu 37 7 11080314 11080314 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:11080314G>A uc003sry.1 + 12 2527 c.2092G>A c.(2092-2094)GCA>ACA p.A698T PHF14_uc011jxi.1_Missense_Mutation_p.A413T|PHF14_uc003srz.2_Missense_Mutation_p.A698T|PHF14_uc011jxj.1_Missense_Mutation_p.A413T NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 698 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) GAATATACCGGCAATTTTGCG 0.348 SCIN 85477 broad.mit.edu 37 7 12668796 12668796 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:12668796A>G uc003ssn.3 + 9 1478 c.1268A>G c.(1267-1269)GAC>GGC p.D423G SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.D176G NM_001112706 NP_001106177 Q9Y6U3 ADSV_HUMAN scinderin isoform 1 423 Ca(2+)-dependent actin binding.|Gelsolin-like 4. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TATGGTGGTGACTGCTACATC 0.408 ABCB5 340273 broad.mit.edu 37 7 20793131 20793131 + Splice_Site SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:20793131T>C uc003suw.3 + 18 2787 c.2241_splice c.e18+2 p.K747_splice ABCB5_uc010kuh.2_Splice_Site_p.K1192_splice NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AGTGAGAAGGTAACATCATTT 0.373 DNAH11 8701 broad.mit.edu 37 7 21742378 21742378 + Silent SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:21742378T>A uc003svc.2 + 38 6283 c.6252T>A c.(6250-6252)GCT>GCA p.A2084A NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2084 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TGGTTGTGGCTGGATCTCTGA 0.403 Kartagener_syndrome HOXA3 3200 broad.mit.edu 37 7 27148111 27148111 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:27148111C>T uc011jzl.1 - 3 955 c.755G>A c.(754-756)GGC>GAC p.G252D HOXA3_uc011jzk.1_Missense_Mutation_p.G94D|HOXA3_uc003syk.2_Missense_Mutation_p.G252D NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 252 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 CATGCCCTTGCCCTTCTGATC 0.592 TAX1BP1 8887 broad.mit.edu 37 7 27855995 27855995 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:27855995G>A uc003szl.2 + 14 1950 c.1792G>A c.(1792-1794)GCA>ACA p.A598T TAX1BP1_uc011jzo.1_Missense_Mutation_p.A598T|TAX1BP1_uc003szk.2_Missense_Mutation_p.A598T|TAX1BP1_uc011jzp.1_Missense_Mutation_p.A441T NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) 598 Potential. anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1) 1 GBM - Glioblastoma multiforme(3;0.0823) AGAAAATCCAGCAGAAAGGAA 0.323 PDE1C 5137 broad.mit.edu 37 7 31862835 31862835 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:31862835G>A uc003tcm.1 - 14 1903 c.1434C>T c.(1432-1434)GCC>GCT p.A478A PDE1C_uc003tcn.1_Silent_p.A478A|PDE1C_uc003tco.1_Silent_p.A538A|PDE1C_uc003tcr.2_Silent_p.A478A|PDE1C_uc003tcs.2_Silent_p.A478A NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 478 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CTGATCGCTTGGCATCTGACG 0.443 ELMO1 9844 broad.mit.edu 37 7 37251045 37251045 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:37251045G>A uc003tfk.1 - 13 1339 c.1032C>T c.(1030-1032)AGC>AGT p.S344S ELMO1_uc011kbc.1_Silent_p.S248S|ELMO1_uc010kxg.1_Silent_p.S344S NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 344 ELMO. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GTTTCTCCATGCTGCCACTGC 0.468 CDK13 8621 broad.mit.edu 37 7 40132819 40132819 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:40132819C>A uc003thh.3 + 13 3953 c.3671C>A c.(3670-3672)CCT>CAT p.P1224H CDK13_uc003thi.3_Missense_Mutation_p.P1164H|CDK13_uc003thj.2_Missense_Mutation_p.P275H|CDK13_uc003thk.2_Missense_Mutation_p.P157H NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1224 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 CCTCCAGAACCTAGCACTCCG 0.453 AEBP1 165 broad.mit.edu 37 7 44153301 44153301 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:44153301T>C uc003tkb.2 + 21 3223 c.2918T>C c.(2917-2919)ATC>ACC p.I973T AEBP1_uc003tkc.3_Missense_Mutation_p.I548T|AEBP1_uc003tkd.2_Missense_Mutation_p.I223T NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 973 Interaction with PTEN (By similarity).|Required for transcriptional repression (By similarity). 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 GACTATGACATCGGGGCCACT 0.592 GCK 2645 broad.mit.edu 37 7 44187337 44187337 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:44187337C>T uc003tkl.2 - 7 1245 c.775G>A c.(775-777)GCC>ACC p.A259T GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Missense_Mutation_p.A258T|GCK_uc003tkk.1_Missense_Mutation_p.A260T NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 259 A -> T (in MODY2). cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 TCCCCGAAGGCGCCCCACTCG 0.642 COBL 23242 broad.mit.edu 37 7 51098597 51098597 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:51098597T>C uc003tpr.3 - 9 1601 c.1416A>G c.(1414-1416)AAA>AAG p.K472K COBL_uc003tps.2_Silent_p.K529K|COBL_uc011kcl.1_Silent_p.K472K|COBL_uc003tpp.3_Silent_p.K258K|COBL_uc003tpq.3_Silent_p.K413K|COBL_uc003tpo.3_Silent_p.K14K NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 472 skin(3)|ovary(2) 5 Glioma(55;0.08) CTGTGACAGCTTTTTCAGTTC 0.413 SEC61G 23480 broad.mit.edu 37 7 54823470 54823470 + Splice_Site SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:54823470A>G uc003tqf.2 - 3 288 c.197_splice c.e3+1 p.V66_splice SEC61G_uc003tqg.2_Splice_Site_p.V66_splice NM_001012456 NP_001012474 P60059 SC61G_HUMAN Sec61 gamma subunit protein targeting to ER endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity lung(1) 1 Esophageal squamous(2;7.55e-08)|Breast(14;0.0654) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164) AAGTTTACTTACACAATGATG 0.333 ZNF138 7697 broad.mit.edu 37 7 64275387 64275387 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:64275387T>C uc011kdp.1 + 2 271 c.95T>C c.(94-96)GTG>GCG p.V32A ZNF138_uc003ttg.2_5'UTR|ZNF138_uc011kdq.1_Missense_Mutation_p.V32A|ZNF138_uc003tth.2_Intron|ZNF138_uc010kzs.2_Missense_Mutation_p.V26A NM_001160183 NP_001153655 B4DFX2 B4DFX2_HUMAN zinc finger protein 138 isoform 2 32 regulation of transcription, DNA-dependent intracellular nucleic acid binding 0 Lung NSC(55;0.0795)|all_lung(88;0.18) TATAGGCATGTGATGTTAGAG 0.393 TYW1 55253 broad.mit.edu 37 7 66479405 66479405 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:66479405C>A uc003tvn.2 + 5 576 c.427C>A c.(427-429)CTA>ATA p.L143I TYW1_uc010lai.2_RNA NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 143 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) CACTGACGGCCTACCAACTGA 0.408 SPDYE5 442590 broad.mit.edu 37 7 75131017 75131017 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:75131017C>T uc011kfy.1 + 6 1028 c.892C>T c.(892-894)CGG>TGG p.R298W NM_001099435 NP_001092905 A6NIY4 SPDE5_HUMAN speedy homolog E5 298 Arg-rich. 0 CCAGAAACGTCGGTTCCAGTT 0.597 FGL2 10875 broad.mit.edu 37 7 76825822 76825822 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:76825822C>T uc003ugb.2 - 2 1134 c.1094G>A c.(1093-1095)CGA>CAA p.R365Q CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron NM_006682 NP_006673 Q14314 FGL2_HUMAN fibrinogen-like 2 precursor 365 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding skin(2) 2 AGAAGGATATCGATCATTGTC 0.398 PCLO 27445 broad.mit.edu 37 7 82580130 82580130 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:82580130C>T uc003uhx.2 - 6 10063 c.9774G>A c.(9772-9774)GAG>GAA p.E3258E PCLO_uc003uhv.2_Silent_p.E3258E|PCLO_uc010lec.2_Silent_p.E223E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3189 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ACTGCAGCTCCTCCAACTTTT 0.458 PCLO 27445 broad.mit.edu 37 7 82584742 82584742 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:82584742G>A uc003uhx.2 - 5 5816 c.5527C>T c.(5527-5529)CGT>TGT p.R1843C PCLO_uc003uhv.2_Missense_Mutation_p.R1843C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1774 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GCAGCCTGACGTAACTCTTCT 0.448 STEAP4 79689 broad.mit.edu 37 7 87913386 87913386 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:87913386A>G uc003ujs.2 - 2 304 c.199T>C c.(199-201)TAT>CAT p.Y67H STEAP4_uc010lek.2_Missense_Mutation_p.Y67H|STEAP4_uc003ujt.2_Missense_Mutation_p.Y67H NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 67 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) GCTTCTGAATAGCTCAAGACT 0.428 CCDC132 55610 broad.mit.edu 37 7 92926504 92926504 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:92926504T>C uc003umo.2 + 16 1438 c.1310T>C c.(1309-1311)TTA>TCA p.L437S CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.L407S|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.L157S NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 437 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TCTGAAGTTTTACAGGAATCT 0.313 OCM2 4951 broad.mit.edu 37 7 97617763 97617763 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:97617763G>A uc003upc.2 - 2 159 c.159C>T c.(157-159)AAC>AAT p.N53N NM_006188 NP_006179 P0CE71 OCM2_HUMAN oncomodulin-like 53 EF-hand 1.|1 (Potential). calcium ion binding 0 CGCTCTGGTCGTTGTCTATGA 0.537 CYP3A5 1577 broad.mit.edu 37 7 99262895 99262895 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:99262895T>C uc003urq.2 - 7 651 c.564A>G c.(562-564)TCA>TCG p.S188S ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Silent_p.S8S|CYP3A5_uc003urr.2_Silent_p.S75S|CYP3A5_uc011kiy.1_Silent_p.S178S|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000777 NP_000768 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, 188 alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541) TCACTCCAAATGATGTGCCAG 0.413 OR2AE1 81392 broad.mit.edu 37 7 99474306 99474306 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:99474306G>A uc003usc.1 - 1 351 c.351C>T c.(349-351)GTC>GTT p.V117V NM_001005276 NP_001005276 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CATAGGACATGACAGCTAAGA 0.478 ZNF3 7551 broad.mit.edu 37 7 99669329 99669329 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:99669329C>T uc003usq.2 - 6 1085 c.778G>A c.(778-780)GAT>AAT p.D260N ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.D260N|ZNF3_uc010lgj.2_Missense_Mutation_p.D224N|ZNF3_uc003uss.2_Missense_Mutation_p.D267N|ZNF3_uc003ust.3_Missense_Mutation_p.D260N NM_032924 NP_116313 P17036 ZNF3_HUMAN zinc finger protein 3 isoform 2 260 C2H2-type 3. cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) TTCCCACAATCACTACATTCA 0.483 C7orf51 222950 broad.mit.edu 37 7 100086071 100086071 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:100086071G>A uc003uvd.1 + 4 886 c.727G>A c.(727-729)GGC>AGC p.G243S C7orf51_uc003uve.1_Missense_Mutation_p.G25S NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 243 Poly-Gly. skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGGGGTGGGGGCCCGACCCC 0.647 EPHB4 2050 broad.mit.edu 37 7 100420130 100420130 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:100420130G>A uc003uwn.1 - 4 1062 c.571C>T c.(571-573)CAC>TAC p.H191Y EPHB4_uc003uwm.1_Missense_Mutation_p.H98Y|EPHB4_uc010lhj.1_Missense_Mutation_p.H191Y|EPHB4_uc011kkf.1_Missense_Mutation_p.H191Y|EPHB4_uc011kkg.1_Missense_Mutation_p.H191Y|EPHB4_uc011kkh.1_Missense_Mutation_p.H191Y NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 191 Extracellular (Potential).|Cys-rich. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) TAGAAGAGGTGCAGGGATAGC 0.612 SLC12A9 56996 broad.mit.edu 37 7 100453458 100453458 + Silent SNP C C T rs140479354 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:100453458C>T uc003uwp.2 + 4 589 c.447C>T c.(445-447)GCC>GCT p.A149A SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.2_Intron|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'Flank|SLC12A9_uc003uwv.2_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 149 Extracellular (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) TCTTCGGGGCCGGTCTGTGCT 0.617 SRRT 51593 broad.mit.edu 37 7 100478930 100478930 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:100478930C>T uc003uwy.2 + 4 415 c.147C>T c.(145-147)CGC>CGT p.R49R SRRT_uc010lhl.1_Silent_p.R49R|SRRT_uc003uxa.2_Silent_p.R49R|SRRT_uc003uwz.2_Silent_p.R49R NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 49 Arg-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 GCCGTGAGCGCCGTAGTCGGG 0.448 MUC17 140453 broad.mit.edu 37 7 100682851 100682851 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:100682851C>T uc003uxp.1 + 3 8207 c.8154C>T c.(8152-8154)GAC>GAT p.D2718D MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2718 Extracellular (Potential).|43.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTCCTGTTGACACCAGCACAC 0.483 ORAI2 80228 broad.mit.edu 37 7 102087353 102087353 + Missense_Mutation SNP G G A rs149386719 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:102087353G>A uc010lhz.1 + 4 854 c.619G>A c.(619-621)GTG>ATG p.V207M ORAI2_uc003uzj.2_Missense_Mutation_p.V207M|ORAI2_uc003uzk.2_Missense_Mutation_p.V207M|ORAI2_uc011kks.1_Missense_Mutation_p.V130M NM_001126340 NP_001119812 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 207 Helical; (Potential). integral to membrane protein binding ovary(1)|kidney(1) 2 CATGGTGCCCGTGGGCCTCAT 0.672 CDHR3 222256 broad.mit.edu 37 7 105653434 105653434 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:105653434G>A uc003vdl.3 + 9 1289 c.1181G>A c.(1180-1182)GGC>GAC p.G394D CDHR3_uc003vdk.2_Missense_Mutation_p.G42D|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.G381D|CDHR3_uc011klt.1_Missense_Mutation_p.G306D|CDHR3_uc003vdn.2_Missense_Mutation_p.G111D NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 394 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 GTGGGGAGCGGCAGCAGATTT 0.473 LAMB1 3912 broad.mit.edu 37 7 107580698 107580698 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:107580698G>A uc003vew.2 - 25 3832 c.3497C>T c.(3496-3498)ACG>ATG p.T1166M LAMB1_uc003vev.2_Missense_Mutation_p.T1190M NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1166 Laminin EGF-like 13. 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) GTACCCTCGCGTGCACTTGTC 0.602 NRCAM 4897 broad.mit.edu 37 7 107807442 107807442 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:107807442T>C uc003vfb.2 - 30 3861 c.3390A>G c.(3388-3390)ACA>ACG p.T1130T NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Intron|NRCAM_uc003vfd.2_Intron|NRCAM_uc003vfe.2_Intron|NRCAM_uc011kmj.1_Intron NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 1130 Fibronectin type-III 5.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 CTTTGTATGCTGTTCCTGGCA 0.453 LRRN3 54674 broad.mit.edu 37 7 110764283 110764283 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:110764283C>T uc003vft.3 + 4 2501 c.1455C>T c.(1453-1455)GGC>GGT p.G485G IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.G485G|LRRN3_uc003vfs.3_Silent_p.G485G NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 485 Extracellular (Potential).|Ig-like C2-type. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ATATAAATGGCGTAACTCCCA 0.408 CTTNBP2 83992 broad.mit.edu 37 7 117417627 117417627 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:117417627T>C uc003vjf.2 - 8 2808 c.2716A>G c.(2716-2718)ATT>GTT p.I906V NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 906 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GCGTGGTTAATGAGGTCTGCA 0.502 CPA5 93979 broad.mit.edu 37 7 130008355 130008355 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:130008355G>A uc010lmd.1 + 14 1848 c.1228G>A c.(1228-1230)GCC>ACC p.A410T CPA5_uc003vps.2_Missense_Mutation_p.A410T|CPA5_uc003vpt.2_Silent_p.R381R|CPA5_uc010lme.1_Missense_Mutation_p.A410T|CPA5_uc003vpu.1_Missense_Mutation_p.A410T|uc003vpv.1_RNA NM_001127441 NP_001120913 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 isoform 1 410 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Melanoma(18;0.0435) CCTGCTGCCGGCCACACAGAT 0.612 PLXNA4 91584 broad.mit.edu 37 7 131859587 131859587 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:131859587G>A uc003vra.3 - 21 4196 c.3967C>T c.(3967-3969)CGG>TGG p.R1323W NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1323 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 AACAGCACCCGCATGGTGTAA 0.512 NUP205 23165 broad.mit.edu 37 7 135301989 135301989 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:135301989T>C uc003vsw.2 + 26 3715 c.3684T>C c.(3682-3684)AAT>AAC p.N1228N NUP205_uc003vsx.2_5'Flank NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1228 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 CAGTCTGCAATGTCAAGGTGA 0.403 KIAA1549 57670 broad.mit.edu 37 7 138603265 138603265 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:138603265C>T uc011kql.1 - 2 1156 c.1107G>A c.(1105-1107)GCG>GCA p.A369A KIAA1549_uc003vuk.3_Silent_p.A319A|KIAA1549_uc011kqj.1_Silent_p.A369A NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 369 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 AAGCAGAGGACGCAAATGCAA 0.512 O BRAF pilocytic astrocytoma HIPK2 28996 broad.mit.edu 37 7 139416405 139416405 + Silent SNP G G A rs113824554 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:139416405G>A uc003vvf.3 - 2 603 c.429C>T c.(427-429)AGC>AGT p.S143S HIPK2_uc003vvd.3_Silent_p.S143S NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 143 Transcriptional corepression (By similarity). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) TGATCTGCACGCTGCTTGTGT 0.532 EPHA1 2041 broad.mit.edu 37 7 143096842 143096842 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:143096842C>T uc003wcz.2 - 4 824 c.737G>A c.(736-738)CGC>CAC p.R246H NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 246 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GCAGTGCATGCGGGGTGCACC 0.667 OR2F1 26211 broad.mit.edu 37 7 143657708 143657708 + Silent SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:143657708T>G uc003wds.1 + 1 689 c.645T>G c.(643-645)CTT>CTG p.L215L NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 215 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) GCCTGGTTCTTTTGTCCTACA 0.498 OR2A2 442361 broad.mit.edu 37 7 143806951 143806951 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:143806951C>A uc011ktz.1 + 1 276 c.276C>A c.(274-276)TCC>TCA p.S92S NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) GAACCATCTCCTTTGTTCCAT 0.423 ARHGEF5 7984 broad.mit.edu 37 7 144070331 144070331 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:144070331C>T uc003wel.2 + 10 4212 c.4094C>T c.(4093-4095)ACA>ATA p.T1365I ARHGEF5_uc003wek.2_Missense_Mutation_p.T1365I|ARHGEF5_uc003wem.2_Missense_Mutation_p.T220I NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 1365 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) ATGCGACGGACAGAGGAACTA 0.517 EZH2 2146 broad.mit.edu 37 7 148507436 148507436 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:148507436T>C uc003wfd.1 - 17 2169 c.2003A>G c.(2002-2004)AAC>AGC p.N668S EZH2_uc011kug.1_Missense_Mutation_p.N617S|EZH2_uc003wfb.1_Missense_Mutation_p.N673S|EZH2_uc003wfc.1_Missense_Mutation_p.N629S|EZH2_uc011kuh.1_Missense_Mutation_p.N659S NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 668 SET. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) ATTGTTCAAGTTGAACAGAAA 0.438 Mis DLBCL ZNF398 57541 broad.mit.edu 37 7 148851131 148851131 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:148851131C>T uc003wfl.2 + 2 394 c.119C>T c.(118-120)GCT>GTT p.A40V ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.A45V NM_170686 NP_733787 Q8TD17 ZN398_HUMAN zinc finger 398 isoform a 40 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) CAGACAGCAGCTATCTCTCTG 0.587 ABP1 26 broad.mit.edu 37 7 150554063 150554063 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:150554063A>G uc003why.1 + 3 4723 c.505A>G c.(505-507)ACC>GCC p.T169A ABP1_uc003whz.1_Missense_Mutation_p.T169A|ABP1_uc003wia.1_Missense_Mutation_p.T169A NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 169 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CTTCCTCAATACCACAGGCTT 0.602 ABP1 26 broad.mit.edu 37 7 150554734 150554734 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:150554734G>A uc003why.1 + 3 5394 c.1176G>A c.(1174-1176)CCG>CCA p.P392P ABP1_uc003whz.1_Silent_p.P392P|ABP1_uc003wia.1_Silent_p.P392P NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 392 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) TCGACTGCCCGGAGACCGCCA 0.607 MLL3 58508 broad.mit.edu 37 7 151860524 151860524 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:151860524G>A uc003wla.2 - 43 10357 c.10138C>T c.(10138-10140)CCA>TCA p.P3380S MLL3_uc003wkz.2_Missense_Mutation_p.P2441S|MLL3_uc003wky.2_Missense_Mutation_p.P889S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3380 Gln-rich.|Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ACCCGAGGTGGTGGTCCACTC 0.458 N medulloblastoma MLL3 58508 broad.mit.edu 37 7 151962206 151962206 + Silent SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:151962206A>G uc003wla.2 - 8 1320 c.1101T>C c.(1099-1101)CAT>CAC p.H367H NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 367 PHD-type 1.|RING-type. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GGCACATTCCATGATAGTGCT 0.443 N medulloblastoma CSMD1 64478 broad.mit.edu 37 8 2820754 2820754 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:2820754G>A uc011kwk.1 - 60 9837 c.9447C>T c.(9445-9447)CCC>CCT p.P3149P CSMD1_uc011kwj.1_Silent_p.P2478P|CSMD1_uc010lrg.2_Silent_p.P1040P NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3149 Sushi 25.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGAGACACTGGGGGATCTCTC 0.552 CSMD1 64478 broad.mit.edu 37 8 2830689 2830689 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:2830689C>T uc011kwk.1 - 57 9266 c.8876G>A c.(8875-8877)CGC>CAC p.R2959H CSMD1_uc011kwj.1_Missense_Mutation_p.R2288H|CSMD1_uc010lrg.2_Missense_Mutation_p.R969H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2959 Extracellular (Potential).|Sushi 22. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAAACACGTGCGTTCAGGGGA 0.542 MCPH1 79648 broad.mit.edu 37 8 6338243 6338243 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:6338243A>G uc003wqi.2 + 11 2050 c.1982A>G c.(1981-1983)AAT>AGT p.N661S NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 661 BRCT 2. microtubule organizing center central_nervous_system(1)|skin(1) 2 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AGAAAGCAGAATGTCGTCATC 0.423 XKR6 286046 broad.mit.edu 37 8 10755778 10755778 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:10755778C>T uc003wtk.1 - 3 1637 c.1610G>A c.(1609-1611)CGG>CAG p.R537Q NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 537 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CTGGGTCCCCCGGTACCCAGG 0.617 GATA4 2626 broad.mit.edu 37 8 11614510 11614510 + Missense_Mutation SNP C C G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:11614510C>G uc003wuc.2 + 6 1618 c.1064C>G c.(1063-1065)ACC>AGC p.T355S GATA4_uc003wub.1_Missense_Mutation_p.T149S|GATA4_uc011kxc.1_Missense_Mutation_p.T356S NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 355 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) AACGCCACCACCAGCAGCAGC 0.622 NEIL2 252969 broad.mit.edu 37 8 11637250 11637250 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:11637250G>A uc003wug.2 + 3 957 c.282G>A c.(280-282)GGG>GGA p.G94G NEIL2_uc003wue.2_Silent_p.G94G|NEIL2_uc003wuf.2_Silent_p.G33G|NEIL2_uc011kxd.1_Intron NM_145043 NP_659480 Q969S2 NEIL2_HUMAN nei like 2 isoform a 94 base-excision repair|nucleotide-excision repair nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding 0 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) AGCCCAGCGGGCAGAAGACCC 0.612 BER_DNA_glycosylases C8orf79 57604 broad.mit.edu 37 8 12878931 12878931 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:12878931G>A uc010lsq.2 + 5 1235 c.743G>A c.(742-744)CGT>CAT p.R248H C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.R161H|C8orf79_uc010lsr.2_Missense_Mutation_p.R122H NM_020844 NP_065895 Q9P272 K1456_HUMAN hypothetical protein LOC57604 isoform 1 248 methyltransferase activity 0 AAATCGTTTCGTTCCTGGTTT 0.413 STC1 6781 broad.mit.edu 37 8 23709885 23709885 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:23709885C>T uc003xdw.1 - 2 415 c.131G>A c.(130-132)CGT>CAT p.R44H NM_003155 NP_003146 P52823 STC1_HUMAN stanniocalcin 1 precursor 44 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity p.R44C(1) skin(3)|upper_aerodigestive_tract(1) 4 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GTTGAGGCAACGAACCACTTC 0.502 FZD3 7976 broad.mit.edu 37 8 28413394 28413394 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:28413394C>T uc003xgx.2 + 7 2171 c.1693C>T c.(1693-1695)CTG>TTG p.L565L FZD3_uc010lvb.2_Silent_p.L565L NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 565 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) TTCAACTCAGCTGGCTATGGT 0.493 C8orf41 80185 broad.mit.edu 37 8 33367337 33367337 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:33367337A>G uc003xjl.3 - 2 1286 c.761T>C c.(760-762)GTC>GCC p.V254A C8orf41_uc003xjk.3_Missense_Mutation_p.V254A|C8orf41_uc010lvv.2_Missense_Mutation_p.V254A|C8orf41_uc003xjm.3_Missense_Mutation_p.V254A|C8orf41_uc003xjn.1_Missense_Mutation_p.V254A NM_025115 NP_079391 Q6NXR4 CH041_HUMAN hypothetical protein LOC80185 254 binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) ATCTGAAATGACCAATGATGC 0.473 WHSC1L1 54904 broad.mit.edu 37 8 38139077 38139077 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:38139077C>T uc003xli.2 - 20 4044 c.3526G>A c.(3526-3528)GGT>AGT p.G1176S WHSC1L1_uc011lbm.1_Missense_Mutation_p.G1176S|WHSC1L1_uc010lwe.2_Missense_Mutation_p.G1127S|WHSC1L1_uc003xlh.2_5'Flank NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 1176 SET. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) ATTAATTCACCGACGTATTCA 0.323 T NUP98 AML ANK1 286 broad.mit.edu 37 8 41525866 41525866 + Silent SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:41525866G>T uc003xok.2 - 39 5397 c.5313C>A c.(5311-5313)TCC>TCA p.S1771S NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.S925S|ANK1_uc003xoi.2_Silent_p.S1771S|ANK1_uc003xoj.2_Silent_p.S1771S|ANK1_uc003xol.2_Silent_p.S1609S|ANK1_uc003xom.2_Silent_p.S1812S NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1771 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGTCGGCCTGGGAGCTCTCAG 0.617 SGK196 84197 broad.mit.edu 37 8 42958705 42958705 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:42958705C>T uc003xpw.2 + 4 273 c.14C>T c.(13-15)CCC>CTC p.P5L NM_032237 NP_115613 Q9H5K3 SG196_HUMAN protein kinase-like protein SgK196 5 integral to membrane ATP binding|protein kinase activity 0 GAAAAGCAGCCCCAGAACAGC 0.512 PRKDC 5591 broad.mit.edu 37 8 48706944 48706944 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:48706944G>A uc003xqi.2 - 75 10634 c.10577C>T c.(10576-10578)CCG>CTG p.P3526L PRKDC_uc003xqj.2_Missense_Mutation_p.P3526L|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3526 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AATAGCCTGCGGGTAGTTATC 0.458 NHEJ ATP6V1H 51606 broad.mit.edu 37 8 54730032 54730032 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:54730032G>A uc003xrl.2 - 5 517 c.365C>T c.(364-366)GCG>GTG p.A122V ATP6V1H_uc003xrk.2_Missense_Mutation_p.A82V|ATP6V1H_uc003xrm.2_Missense_Mutation_p.A122V|ATP6V1H_uc003xrn.2_Missense_Mutation_p.A122V|ATP6V1H_uc011ldv.1_Missense_Mutation_p.A42V|ATP6V1H_uc010lyd.2_Missense_Mutation_p.A58V NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 122 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) GTAGGGCCACGCAGTGTTCTT 0.338 SOX17 64321 broad.mit.edu 37 8 55372486 55372486 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:55372486C>T uc003xsb.3 + 2 1380 c.1176C>T c.(1174-1176)CAC>CAT p.H392H NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 392 Sox C-terminal. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) CCGACAGCCACGGGGCCATTT 0.607 RP1 6101 broad.mit.edu 37 8 55540063 55540063 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:55540063T>C uc003xsd.1 + 4 3769 c.3621T>C c.(3619-3621)GAT>GAC p.D1207D RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1207 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTCCAATAGATCTTTCTGCAA 0.428 CYP7A1 1581 broad.mit.edu 37 8 59404099 59404099 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:59404099C>T uc003xtm.3 - 6 1513 c.1450G>A c.(1450-1452)GCA>ACA p.A484T NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 484 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CCCAAGCCTGCCCGGGACTGG 0.383 Neonatal_Giant_Cell_Hepatitis CHD7 55636 broad.mit.edu 37 8 61743037 61743037 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:61743037A>G uc003xue.2 + 15 4156 c.3679A>G c.(3679-3681)ACA>GCA p.T1227A NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1227 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GAAGAATTTCACATTTCTTTC 0.393 ARMC1 55156 broad.mit.edu 37 8 66517566 66517566 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:66517566C>T uc003xvl.2 - 6 824 c.589G>A c.(589-591)GCA>ACA p.A197T ARMC1_uc011leo.1_Missense_Mutation_p.A95T NM_018120 NP_060590 Q9NVT9 ARMC1_HUMAN armadillo repeat-containing protein 197 metal ion transport metal ion binding skin(1) 1 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) ATTGCTGATGCCAAAGCCTAA 0.333 ADHFE1 137872 broad.mit.edu 37 8 67364208 67364208 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:67364208C>A uc003xwb.3 + 9 789 c.755C>A c.(754-756)ACC>AAC p.T252N ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.T204N|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.T182N|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA NM_144650 NP_653251 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 252 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GAGTCATACACCACCCTGCCC 0.522 PREX2 80243 broad.mit.edu 37 8 69104648 69104648 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:69104648T>C uc003xxv.1 + 37 4519 c.4492T>C c.(4492-4494)TGT>CGT p.C1498R NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1498 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CACAGCTGCCTGTGCAAACAC 0.527 TRAM1 23471 broad.mit.edu 37 8 71495964 71495964 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:71495964T>A uc003xyo.1 - 9 981 c.811A>T c.(811-813)ACT>TCT p.T271S TRAM1_uc011lfc.1_Missense_Mutation_p.T240S NM_014294 NP_055109 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 271 Helical; (Potential).|TLC. cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity ovary(1) 1 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) AAACCAACAGTCAGTACTGAA 0.373 KCNB2 9312 broad.mit.edu 37 8 73849496 73849496 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:73849496G>A uc003xzb.2 + 3 2494 c.1906G>A c.(1906-1908)GAC>AAC p.D636N NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 636 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) GTTCCCAACCGACCTCCCAGG 0.597 ZFHX4 79776 broad.mit.edu 37 8 77767139 77767139 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:77767139G>A uc003yav.2 + 10 8234 c.7847G>A c.(7846-7848)AGG>AAG p.R2616K ZFHX4_uc003yau.1_Missense_Mutation_p.R2661K|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2616K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2616 Homeobox 3. 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) GCGCGGGAGAGGAAAGGCCAG 0.522 HNSCC(33;0.089) CNBD1 168975 broad.mit.edu 37 8 87951921 87951921 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:87951921T>G uc003ydy.2 + 4 418 c.370T>G c.(370-372)TTA>GTA p.L124V NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 124 ovary(3) 3 TGGCCATATTTTATATAGACC 0.338 NBN 4683 broad.mit.edu 37 8 90990491 90990491 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:90990491G>T uc003yej.1 - 5 651 c.541C>A c.(541-543)CTG>ATG p.L181M NBN_uc003yei.1_Missense_Mutation_p.L99M|NBN_uc011lgb.1_Missense_Mutation_p.L181M NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 181 BRCT. cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) ACTGCTTTCAGGAATTCAGTA 0.313 Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome RUNX1T1 862 broad.mit.edu 37 8 92998448 92998448 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:92998448G>A uc003yfd.2 - 8 1267 c.1183C>T c.(1183-1185)CGG>TGG p.R395W RUNX1T1_uc003yfc.1_Missense_Mutation_p.R368W|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R358W|RUNX1T1_uc010mao.2_Missense_Mutation_p.R368W|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R406W|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R358W NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 395 R -> W (in a colorectal cancer sample; somatic mutation). generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R358W(1) lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TCACTGTACCGCCGGATCCAG 0.512 TSPYL5 85453 broad.mit.edu 37 8 98289167 98289167 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:98289167C>T uc003yhy.2 - 1 1010 c.906G>A c.(904-906)CCG>CCA p.P302P NM_033512 NP_277047 Q86VY4 TSYL5_HUMAN TSPY-like 5 302 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding large_intestine(1)|ovary(1) 2 Breast(36;2.56e-06) TTTGGAAATACGGGTTGCGAT 0.488 KCNS2 3788 broad.mit.edu 37 8 99441361 99441361 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:99441361C>T uc003yin.2 + 2 1504 c.1154C>T c.(1153-1155)ACG>ATG p.T385M NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 385 Extracellular (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CCAGGGACCACGGCAGGAAAG 0.597 VPS13B 157680 broad.mit.edu 37 8 100147902 100147902 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:100147902C>T uc003yiv.2 + 11 1615 c.1504C>T c.(1504-1506)CGA>TGA p.R502* VPS13B_uc003yiw.2_Nonsense_Mutation_p.R502*|VPS13B_uc003yit.2_Nonsense_Mutation_p.R502*|VPS13B_uc003yiu.1_Nonsense_Mutation_p.R502*|VPS13B_uc003yix.1_5'Flank NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 502 protein transport 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) GTTTGATTACCGAAGCCCAGA 0.338 RGS22 26166 broad.mit.edu 37 8 101065081 101065081 + Silent SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:101065081G>T uc003yjb.1 - 10 1833 c.1638C>A c.(1636-1638)ACC>ACA p.T546T RGS22_uc003yja.1_Silent_p.T365T|RGS22_uc003yjc.1_Silent_p.T534T|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 546 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATGGCAAGAGGGTTGCCATTT 0.418 UBR5 51366 broad.mit.edu 37 8 103293613 103293613 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:103293613A>G uc003ykr.1 - 41 5864 c.5831T>C c.(5830-5832)TTG>TCG p.L1944S UBR5_uc003yks.1_Missense_Mutation_p.L1944S NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1944 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) CACATGCTTCAATGAGCAAAC 0.393 ODF1 4956 broad.mit.edu 37 8 103572812 103572812 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:103572812G>A uc003ykt.2 + 2 561 c.453G>A c.(451-453)TCG>TCA p.S151S NM_024410 NP_077721 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 151 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity ovary(2) 2 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) TATGTGTGTCGGCTGAGCGGG 0.488 ZFPM2 23414 broad.mit.edu 37 8 106813750 106813750 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:106813750C>A uc003ymd.2 + 8 1463 c.1440C>A c.(1438-1440)GCC>GCA p.A480A ZFPM2_uc011lhs.1_Silent_p.A211A NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 480 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAAGACTTGCCTCATCTCCAG 0.448 EIF3E 3646 broad.mit.edu 37 8 109215314 109215314 + Silent SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:109215314T>C uc003ymu.2 - 12 1225 c.1197A>G c.(1195-1197)TCA>TCG p.S399S EIF3E_uc003ymt.2_Silent_p.S350S|EIF3E_uc003ymv.2_Silent_p.S306S NM_001568 NP_001559 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, 399 Sufficient for interaction with MCM7. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding ovary(2)|kidney(1) 3 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) GCTGATAGGGTGAGACTGCAT 0.388 TRHR 7201 broad.mit.edu 37 8 110100047 110100047 + Silent SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:110100047T>G uc003ymz.3 + 1 322 c.306T>G c.(304-306)ACT>ACG p.T102T NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 102 Helical; Name=3; (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TCTGCATTACTTACCTCCAGT 0.468 PKHD1L1 93035 broad.mit.edu 37 8 110476610 110476610 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:110476610A>G uc003yne.2 + 49 7653 c.7549A>G c.(7549-7551)ATT>GTT p.I2517V NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2517 PbH1 1.|Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGAGAGGAATATTATATATGA 0.358 HNSCC(38;0.096) CSMD3 114788 broad.mit.edu 37 8 113267597 113267597 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:113267597T>C uc003ynu.2 - 62 10081 c.9922A>G c.(9922-9924)ATA>GTA p.I3308V CSMD3_uc003yns.2_Missense_Mutation_p.I2510V|CSMD3_uc003ynt.2_Missense_Mutation_p.I3268V|CSMD3_uc011lhx.1_Missense_Mutation_p.I3139V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3308 Extracellular (Potential).|Sushi 26. 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 GACTGGTATATAAAGCTTTTG 0.398 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) EXT1 2131 broad.mit.edu 37 8 118819472 118819472 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:118819472C>T uc003yok.1 - 9 2640 c.1867G>A c.(1867-1869)GCT>ACT p.A623T NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 623 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TAAATAGCAGCTCCTGTCAAC 0.473 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome NOV 4856 broad.mit.edu 37 8 120435303 120435303 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:120435303C>T uc003yoq.2 + 5 1226 c.1005C>T c.(1003-1005)ACC>ACT p.T335T NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 335 CTCK. regulation of cell growth growth factor activity|insulin-like growth factor binding ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTGTCACACCAACTGTCCTA 0.512 ZHX1 11244 broad.mit.edu 37 8 124267603 124267603 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:124267603C>T uc003yqe.2 - 3 1014 c.584G>A c.(583-585)CGG>CAG p.R195Q C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.R195Q|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.R195Q NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 195 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) AACTGCAATCCGTTTATTTTC 0.353 TRIB1 10221 broad.mit.edu 37 8 126448362 126448362 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:126448362C>A uc003yrx.2 + 3 1350 c.768C>A c.(766-768)ACC>ACA p.T256T TRIB1_uc011lis.1_Silent_p.T90T|TRIB1_uc010mdn.2_Silent_p.T25T NM_025195 NP_079471 Q96RU8 TRIB1_HUMAN G-protein-coupled receptor induced protein 256 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity lung(1) 1 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) TCCTCAACACCACTGGGACCT 0.537 KCNQ3 3786 broad.mit.edu 37 8 133146585 133146585 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:133146585T>G uc003ytj.2 - 13 1976 c.1751A>C c.(1750-1752)AAG>ACG p.K584T KCNQ3_uc010mdt.2_Missense_Mutation_p.K584T NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 584 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTTCTGAGACTTCTTGTGTTT 0.483 FAM135B 51059 broad.mit.edu 37 8 139153505 139153505 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:139153505C>T uc003yuy.2 - 17 3897 c.3726G>A c.(3724-3726)ACG>ACA p.T1242T FAM135B_uc003yux.2_Silent_p.T1143T|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1242 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTGACAGGAACGTGTGGAGTT 0.507 HNSCC(54;0.14) PTK2 5747 broad.mit.edu 37 8 141803473 141803473 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:141803473C>A uc003yvu.2 - 13 1334 c.1104G>T c.(1102-1104)CGG>CGT p.R368R PTK2_uc011ljq.1_Silent_p.R29R|PTK2_uc003yvp.2_Silent_p.R29R|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Silent_p.R267R|PTK2_uc003yvs.2_Silent_p.R368R|PTK2_uc003yvt.2_Silent_p.R390R|PTK2_uc003yvv.2_Silent_p.R255R|PTK2_uc011ljr.1_Silent_p.R368R NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 368 axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) ATGGCAAAGCCCGTTCACCTT 0.373 ZFP41 286128 broad.mit.edu 37 8 144332457 144332457 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:144332457C>T uc003yxw.2 + 2 802 c.444C>T c.(442-444)TGC>TGT p.C148C ZFP41_uc003yxv.2_RNA NM_173832 NP_776193 Q8N8Y5 ZFP41_HUMAN zinc finger protein 41 homolog 148 C2H2-type 3. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GCGGGGAGTGCGGGAAAGCCT 0.577 GRINA 2907 broad.mit.edu 37 8 145066937 145066937 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:145066937G>A uc003zan.1 + 7 1210 c.1044G>A c.(1042-1044)GCG>GCA p.A348A GRINA_uc003zao.1_Silent_p.A348A|GRINA_uc003zap.1_Silent_p.A348A NM_001009184 NP_001009184 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl 348 Helical; (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGTTTGCTGCGCTGAACCTGT 0.572 SPATC1 375686 broad.mit.edu 37 8 145095846 145095846 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:145095846C>T uc011lkw.1 + 3 1246 c.1144C>T c.(1144-1146)CCT>TCT p.P382S SPATC1_uc011lkx.1_Missense_Mutation_p.P382S NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 382 ovary(1)|central_nervous_system(1) 2 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCCCACTGTCCTCCACACAA 0.612 CPSF1 29894 broad.mit.edu 37 8 145623823 145623823 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:145623823G>A uc003zcj.2 - 19 1838 c.1763C>T c.(1762-1764)ACG>ATG p.T588M NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 588 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CTCCTGCCCCGTCTGCAGGAT 0.672 FOXD4 2298 broad.mit.edu 37 9 117535 117535 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:117535C>T uc003zfz.2 - 1 883 c.585G>A c.(583-585)CGG>CGA p.R195R NM_207305 NP_997188 Q12950 FOXD4_HUMAN forkhead box D4 195 Fork-head. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCTTCCTACGCCGGAGAAAGC 0.687 GLDC 2731 broad.mit.edu 37 9 6604759 6604759 + Missense_Mutation SNP A A C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:6604759A>C uc003zkc.2 - 7 1080 c.887T>G c.(886-888)CTT>CGT p.L296R NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 296 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CAAAGCTAAAAGGTCAGTAGC 0.522 PTPRD 5789 broad.mit.edu 37 9 8319960 8319960 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:8319960G>A uc003zkk.2 - 44 6252 c.5541C>T c.(5539-5541)GGC>GGT p.G1847G PTPRD_uc003zkp.2_Silent_p.G1441G|PTPRD_uc003zkq.2_Silent_p.G1440G|PTPRD_uc003zkr.2_Silent_p.G1431G|PTPRD_uc003zks.2_Silent_p.G1440G|PTPRD_uc003zkl.2_Silent_p.G1838G|PTPRD_uc003zkm.2_Silent_p.G1834G|PTPRD_uc003zkn.2_Silent_p.G1436G|PTPRD_uc003zko.2_Silent_p.G1437G NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1847 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTCTTCCAACGCCCGCGCTGC 0.438 TSP Lung(15;0.13) KIAA1797 54914 broad.mit.edu 37 9 20988425 20988425 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:20988425C>T uc003zog.1 + 43 5364 c.5001C>T c.(4999-5001)GAC>GAT p.D1667D KIAA1797_uc003zoh.1_Silent_p.D1103D NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1667 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) CGGCTCTTGACAAGGTAAAAT 0.284 TLN1 7094 broad.mit.edu 37 9 35706102 35706102 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:35706102C>T uc003zxt.2 - 41 5722 c.5368G>A c.(5368-5370)GCT>ACT p.A1790T NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1790 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGGGTGTGAGCTGCTTGCTGT 0.582 GNE 10020 broad.mit.edu 37 9 36227249 36227249 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:36227249A>G uc010mlh.2 - 7 1492 c.1277T>C c.(1276-1278)ATG>ACG p.M426T CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.M426T|GNE_uc011lpl.1_Missense_Mutation_p.M316T|GNE_uc010mli.2_Missense_Mutation_p.M457T|GNE_uc010mlj.2_Missense_Mutation_p.M421T NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- 426 UDP-N-acetylglucosamine 2-epimerase.|N-acetylmannosamine kinase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) TTTTACCTTCATGCTGACTAT 0.368 MAMDC2 256691 broad.mit.edu 37 9 72833435 72833435 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:72833435T>G uc004ahm.2 + 12 2451 c.1834T>G c.(1834-1836)TTA>GTA p.L612V MAMDC2_uc004ahn.2_RNA|uc004ahq.1_Intron NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN MAM domain containing 2 precursor 612 MAM 4. endoplasmic reticulum|membrane central_nervous_system(1)|pancreas(1) 2 AGAGTCCCTCTTATGGAGGAG 0.468 ALDH1A1 216 broad.mit.edu 37 9 75545795 75545795 + Silent SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:75545795C>A uc004ajd.2 - 3 365 c.312G>T c.(310-312)GCG>GCT p.A104A ALDH1A1_uc011lsh.1_Silent_p.A25A NM_000689 NP_000680 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1A1 104 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity ovary(3)|lung(1) 4 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TAATACTCACCGCCAGCAGCA 0.458 PRUNE2 158471 broad.mit.edu 37 9 79323912 79323912 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:79323912C>T uc010mpk.2 - 8 3402 c.3278G>A c.(3277-3279)CGA>CAA p.R1093Q NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1093 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TGTGAGTTGTCGGTTTGTTTC 0.512 VPS13A 23230 broad.mit.edu 37 9 79841516 79841516 + Splice_Site SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:79841516T>C uc004akr.2 + 15 1617 c.1357_splice c.e15+2 p.T453_splice VPS13A_uc004akp.3_Splice_Site_p.T453_splice|VPS13A_uc004akq.3_Splice_Site_p.T453_splice|VPS13A_uc004aks.2_Splice_Site_p.T453_splice NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 AACCTGAAAGTATGTCCATTT 0.328 FLJ46321 389763 broad.mit.edu 37 9 84607460 84607460 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:84607460G>A uc004amn.2 + 4 2122 c.2075G>A c.(2074-2076)CGA>CAA p.R692Q NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 692 integral to membrane 0 CAACACATTCGAAGGAGGCTC 0.493 RASEF 158158 broad.mit.edu 37 9 85607893 85607893 + Silent SNP A A T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:85607893A>T uc004amo.1 - 15 2229 c.1968T>A c.(1966-1968)GCT>GCA p.A656A NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 656 GTP (By similarity). protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 CACGAATGTCAGCCTTGTTTC 0.473 RMI1 80010 broad.mit.edu 37 9 86616999 86616999 + Missense_Mutation SNP C C G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:86616999C>G uc004anq.3 + 3 1506 c.1098C>G c.(1096-1098)TGC>TGG p.C366W RMI1_uc004anr.3_Missense_Mutation_p.C366W|RMI1_uc004anp.3_Missense_Mutation_p.C366W|RMI1_uc004ans.3_Missense_Mutation_p.C366W NM_024945 NP_079221 Q9H9A7 RMI1_HUMAN RMI1, RecQ mediated genome instability 1, 366 DNA replication nucleus 0 CTTTGACTTGCAAAAATGGAA 0.323 SEMA4D 10507 broad.mit.edu 37 9 92020286 92020286 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:92020286C>T uc004aqo.1 - 5 658 c.86G>A c.(85-87)CGG>CAG p.R29Q SEMA4D_uc011ltm.1_Missense_Mutation_p.R29Q|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.R27Q NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 29 Sema.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 CCAGGTGATCCGGGGTATGGG 0.617 FBP2 8789 broad.mit.edu 37 9 97321299 97321299 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:97321299C>T uc004auv.2 - 7 1008 c.941G>A c.(940-942)CGA>CAA p.R314Q uc004aus.1_RNA|uc004aut.1_RNA|uc004auu.2_RNA NM_003837 NP_003828 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 314 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) GAGGGGGACTCGCTGGTGAAT 0.582 FBP2 8789 broad.mit.edu 37 9 97355861 97355861 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:97355861G>A uc004auv.2 - 1 215 c.148C>T c.(148-150)CGC>TGC p.R50C NM_003837 NP_003828 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 50 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) CCGGCCTTGCGCACAGCCGAG 0.642 CTSL2 1515 broad.mit.edu 37 9 99800233 99800233 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:99800233C>T uc004awt.2 - 2 290 c.93G>A c.(91-93)CAG>CAA p.Q31Q CTSL2_uc010msi.2_Silent_p.Q31Q|CTSL2_uc004awu.2_Translation_Start_Site|CTSL2_uc010msj.1_Translation_Start_Site|CTSL2_uc010msk.2_Translation_Start_Site NM_001333 NP_001324 O60911 CATL2_HUMAN cathepsin L2 preproprotein 31 lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(62;0.0559) TTGCCTTCCACTGGTACCACT 0.463 ALDOB 229 broad.mit.edu 37 9 104187169 104187169 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:104187169C>T uc004bbk.2 - 8 1037 c.955G>A c.(955-957)GCA>ACA p.A319T NM_000035 NP_000026 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 319 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) TCCTTGTTTGCAGCCTTGCCA 0.527 EPB41L4B 54566 broad.mit.edu 37 9 112017804 112017804 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:112017804G>A uc004bdz.1 - 11 1451 c.1156C>T c.(1156-1158)CGC>TGC p.R386C EPB41L4B_uc004bea.2_Missense_Mutation_p.R386C NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 386 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 AATCTGAAGCGAGAGCCCAGC 0.453 PTPN3 5774 broad.mit.edu 37 9 112144688 112144688 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:112144688C>T uc004bed.2 - 24 2534 c.2422G>A c.(2422-2424)GCA>ACA p.A808T PTPN3_uc004beb.2_Missense_Mutation_p.A677T|PTPN3_uc004bec.2_Missense_Mutation_p.A632T|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.A763T|PTPN3_uc011lwh.1_Missense_Mutation_p.A654T|PTPN3_uc011lwd.1_Missense_Mutation_p.A276T|PTPN3_uc011lwe.1_Missense_Mutation_p.A521T|PTPN3_uc011lwf.1_Missense_Mutation_p.A476T NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 808 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 TCAGGCCATGCGACGTACTGG 0.572 DNAJC25 548645 broad.mit.edu 37 9 114415422 114415422 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:114415422G>A uc004bfl.2 + 4 1059 c.1003G>A c.(1003-1005)GCA>ACA p.A335T DNAJC25-GNG10_uc004bfn.2_Intron|DNAJC25_uc004bfm.2_Missense_Mutation_p.A213T NM_001015882 NP_001015882 Q9H1X3 DJC25_HUMAN DnaJ (Hsp40) homolog, subfamily C , member 25 335 protein folding integral to membrane heat shock protein binding|unfolded protein binding 0 GAAAAAGTTGGCAAATGACCC 0.398 HSDL2 84263 broad.mit.edu 37 9 115166406 115166406 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:115166406T>G uc004bga.1 + 2 242 c.149T>G c.(148-150)CTT>CGT p.L50R HSDL2_uc011lwv.1_Intron|HSDL2_uc004bgb.1_5'UTR|HSDL2_uc004bgc.1_Missense_Mutation_p.L50R|HSDL2_uc011lww.1_5'UTR NM_032303 NP_115679 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 50 peroxisome oxidoreductase activity|sterol binding 0 CATCCAAAACTTCTAGGCACA 0.428 CDK5RAP2 55755 broad.mit.edu 37 9 123334315 123334315 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:123334315G>T uc004bkf.2 - 2 245 c.64C>A c.(64-66)CTT>ATT p.L22I CDK5RAP2_uc004bkg.2_Missense_Mutation_p.L22I|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.L22I NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 22 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 CTGGGAACAAGGCCACTAGGA 0.468 OR1Q1 158131 broad.mit.edu 37 9 125377600 125377600 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:125377600A>G uc011lyy.1 + 1 584 c.584A>G c.(583-585)AAC>AGC p.N195S NM_012364 NP_036496 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACCTACCTCAACACCCTTATG 0.502 OR1K1 392392 broad.mit.edu 37 9 125563309 125563309 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:125563309G>A uc011lze.1 + 1 908 c.908G>A c.(907-909)CGA>CAA p.R303Q NM_080859 NP_543135 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, 303 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGGGCACTCCGAGCCCTTCTC 0.582 CRB2 286204 broad.mit.edu 37 9 126132851 126132851 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:126132851C>A uc004bnx.1 + 7 1611 c.1519C>A c.(1519-1521)CTG>ATG p.L507M CRB2_uc004bnw.1_Missense_Mutation_p.L507M NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 507 Extracellular (Potential).|Laminin G-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 TGTGCTTGTCCTGAGACTGCC 0.597 NEK6 10783 broad.mit.edu 37 9 127089654 127089654 + Silent SNP C C T rs147517890 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:127089654C>T uc004bog.2 + 7 701 c.552C>T c.(550-552)GGC>GGT p.G184G NEK6_uc004bof.2_Silent_p.G202G|NEK6_uc004boh.2_Silent_p.G218G|NEK6_uc010mwj.2_Silent_p.G137G|NEK6_uc010mwk.2_Silent_p.G184G|NEK6_uc004boi.2_Silent_p.G184G NM_014397 NP_055212 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 isoform 2 184 Protein kinase. apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|kidney(1) 3 CAGCCACGGGCGTCGTGAAGC 0.632 GOLGA1 2800 broad.mit.edu 37 9 127650643 127650643 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:127650643G>A uc004bpc.2 - 19 2136 c.1794C>T c.(1792-1794)TTC>TTT p.F598F GOLGA1_uc010mws.2_RNA NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 598 Potential. Golgi cisterna membrane ovary(1) 1 TTGGAAGCTGGAACACAGGGT 0.552 ZBTB43 23099 broad.mit.edu 37 9 129595614 129595614 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:129595614G>A uc004bql.2 + 3 1099 c.826G>A c.(826-828)GTG>ATG p.V276M ZBTB43_uc010mxf.2_Missense_Mutation_p.V276M NM_014007 NP_054726 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CATCAACACCGTGCAGACAGA 0.572 SPTAN1 6709 broad.mit.edu 37 9 131395517 131395517 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:131395517C>T uc004bvl.3 + 56 7436 c.7323C>T c.(7321-7323)TGC>TGT p.C2441C SPTAN1_uc004bvm.3_Silent_p.C2446C|SPTAN1_uc004bvn.3_Silent_p.C2421C|SPTAN1_uc004bvo.3_Silent_p.C208C|SPTAN1_uc004bvp.3_Silent_p.C184C NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2441 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 CCGACTACTGCGTCTCCCACA 0.622 LRRC8A 56262 broad.mit.edu 37 9 131670897 131670897 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:131670897C>T uc004bwl.3 + 3 1708 c.1454C>T c.(1453-1455)GCG>GTG p.A485V LRRC8A_uc010myp.2_Missense_Mutation_p.A485V|LRRC8A_uc010myq.2_Missense_Mutation_p.A485V NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 485 LRR 5. pre-B cell differentiation integral to membrane 0 AAGATTGAAGCGCCCGCGCTG 0.612 BAT2L1 84726 broad.mit.edu 37 9 134340174 134340174 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:134340174C>T uc004can.3 + 11 1484 c.1429C>T c.(1429-1431)CGG>TGG p.R477W BAT2L1_uc010mzj.1_Missense_Mutation_p.R60W NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 477 protein binding 0 CAGCATGTTCCGGCAACAGTC 0.582 SETX 23064 broad.mit.edu 37 9 135139706 135139706 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:135139706G>T uc004cbk.2 - 26 8137 c.7954C>A c.(7954-7956)CAC>AAC p.H2652N SETX_uc004cbj.2_Missense_Mutation_p.H2300N|SETX_uc010mzt.2_Missense_Mutation_p.H2238N NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 2652 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CTCCTGGTGTGATGGGTCTCG 0.537 GTF3C4 9329 broad.mit.edu 37 9 135555180 135555180 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:135555180G>T uc010mzv.2 + 2 2432 c.2174G>T c.(2173-2175)AGA>ATA p.R725I GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 725 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) TATGATGACAGAACTGCACGG 0.408 CAMSAP1 157922 broad.mit.edu 37 9 138714112 138714112 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:138714112C>T uc004cgr.3 - 11 2395 c.2395G>A c.(2395-2397)GCC>ACC p.A799T CAMSAP1_uc004cgq.3_Missense_Mutation_p.A689T|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A521T NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 799 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) ATCTGAGAGGCTGTGCTCAGG 0.577 EDF1 8721 broad.mit.edu 37 9 139757844 139757844 + Missense_Mutation SNP G G A rs139723037 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:139757844G>A uc004cjt.1 - 3 215 c.187C>T c.(187-189)CGG>TGG p.R63W EDF1_uc004cju.1_Missense_Mutation_p.R63W NM_003792 NP_003783 O60869 EDF1_HUMAN endothelial differentiation-related factor 1 63 Interaction with NR5A2, PPARG and NR1H3. endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent cytoplasm|cytoplasm|nucleolus|nucleus calmodulin binding|protein binding|protein binding|sequence-specific DNA binding|transcription coactivator activity 0 all_cancers(76;0.0841)|all_epithelial(76;0.217) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TCTGTCTCCCGGTCCAGCTTG 0.572 CSF2RA 1438 broad.mit.edu 37 X 1401634 1401634 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:1401634T>C uc010nct.2 + 4 360 c.38T>C c.(37-39)TTA>TCA p.L13S CSF2RA_uc011mhb.1_Missense_Mutation_p.L13S|CSF2RA_uc004cpq.2_Missense_Mutation_p.L13S|CSF2RA_uc004cpn.2_Missense_Mutation_p.L13S|CSF2RA_uc004cpo.2_Missense_Mutation_p.L13S|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.L13S|CSF2RA_uc010ncv.2_Missense_Mutation_p.L13S|CSF2RA_uc004cpr.2_Missense_Mutation_p.L13S NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 13 extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CTCTGTGAGTTACCACACCCA 0.522 ZRSR2 8233 broad.mit.edu 37 X 15822297 15822297 + Nonsense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:15822297C>T uc004cxg.3 + 5 421 c.376C>T c.(376-378)CGA>TGA p.R126* NM_005089 NP_005080 Q15696 U2AFM_HUMAN U2 small nuclear RNA auxiliary factor 1-like 2 126 spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3) 3 Hepatocellular(33;0.183) ggagcagaaacgacaggagaa 0.209 USP9X 8239 broad.mit.edu 37 X 41029259 41029259 + Missense_Mutation SNP G G C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:41029259G>C uc004dfb.2 + 19 3281 c.2648G>C c.(2647-2649)GGT>GCT p.G883A USP9X_uc004dfc.2_Missense_Mutation_p.G883A NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 883 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 GCATTCCGCGGTAAACACCTC 0.413 DUSP21 63904 broad.mit.edu 37 X 44703423 44703423 + Silent SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:44703423G>A uc004dgd.2 + 1 175 c.45G>A c.(43-45)CAG>CAA p.Q15Q NM_022076 NP_071359 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 15 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1) 2 AGGGTGTCCAGCAGCCCTCCA 0.537 ARAF 369 broad.mit.edu 37 X 47424708 47424708 + Silent SNP G G A rs56202823 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:47424708G>A uc011mlq.1 + 6 649 c.516G>A c.(514-516)TCG>TCA p.S172S ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Silent_p.S38S|ARAF_uc011mlp.1_Silent_p.S172S|ARAF_uc004dic.1_5'UTR NM_001654 NP_001645 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene 172 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) AGGCTCCCTCGAACCGCCCCC 0.572 PPP1R3F 89801 broad.mit.edu 37 X 49143388 49143388 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:49143388G>A uc004dnh.1 + 4 2252 c.2236G>A c.(2236-2238)GCA>ACA p.A746T PPP1R3F_uc011mnd.1_Missense_Mutation_p.A417T|PPP1R3F_uc004dni.2_Missense_Mutation_p.A400T|PPP1R3F_uc004dnj.1_Missense_Mutation_p.A400T NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 746 Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) TCCCACCCTAGCAGTCCCTGC 0.612 ZDHHC15 158866 broad.mit.edu 37 X 74651314 74651314 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:74651314G>A uc004ecg.2 - 5 899 c.421C>T c.(421-423)CGC>TGC p.R141C ZDHHC15_uc004ech.2_Missense_Mutation_p.R132C|ZDHHC15_uc011mqo.1_RNA NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 isoform 1 141 DHHC-type. integral to membrane zinc ion binding ovary(2) 2 TGGTGGCAGCGGTCTGGCTTG 0.453 HDX 139324 broad.mit.edu 37 X 83616610 83616610 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:83616610C>T uc004eek.1 - 5 1425 c.1316G>A c.(1315-1317)CGC>CAC p.R439H HDX_uc011mqv.1_Missense_Mutation_p.R439H|HDX_uc004eel.1_Missense_Mutation_p.R381H NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 439 Homeobox 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 GAACTGAGTGCGGTCCTGTAG 0.378 KLHL4 56062 broad.mit.edu 37 X 86919768 86919768 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:86919768G>T uc004efb.2 + 10 2112 c.1930G>T c.(1930-1932)GAT>TAT p.D644Y KLHL4_uc004efa.2_Missense_Mutation_p.D644Y NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 644 Kelch 5. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TTTAAGGTATGATCCAAAAGG 0.403 PCDH11X 27328 broad.mit.edu 37 X 91132491 91132491 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:91132491C>A uc004efk.1 + 2 2097 c.1252C>A c.(1252-1254)CTG>ATG p.L418M PCDH11X_uc004efl.1_Missense_Mutation_p.L418M|PCDH11X_uc004efo.1_Missense_Mutation_p.L418M|PCDH11X_uc010nmv.1_Missense_Mutation_p.L418M|PCDH11X_uc004efm.1_Missense_Mutation_p.L418M|PCDH11X_uc004efn.1_Missense_Mutation_p.L418M|PCDH11X_uc004efh.1_Missense_Mutation_p.L418M|PCDH11X_uc004efj.1_Missense_Mutation_p.L418M NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 418 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TCAGTTCCTCCTGGAGACTGC 0.438 ZMAT1 84460 broad.mit.edu 37 X 101139336 101139336 + Nonsense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:101139336T>A uc004eim.2 - 2 4048 c.550A>T c.(550-552)AGA>TGA p.R184* ZMAT1_uc011mrl.1_Nonsense_Mutation_p.R355*|ZMAT1_uc004ein.2_Nonsense_Mutation_p.R184*|ZMAT1_uc011mrm.1_Nonsense_Mutation_p.R184* NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 184 nucleus zinc ion binding ovary(1) 1 TGTGAAAATCTTTGCTCACAC 0.448 GPRASP1 9737 broad.mit.edu 37 X 101911911 101911911 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:101911911G>A uc004ejj.3 + 5 3871 c.3070G>A c.(3070-3072)GCC>ACC p.A1024T GPRASP1_uc004eji.3_Missense_Mutation_p.A1024T|GPRASP1_uc010nod.2_Missense_Mutation_p.A1024T NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 1024 OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 CGTGTTCAGGGCCATTTGCAG 0.542 MORC4 79710 broad.mit.edu 37 X 106185215 106185215 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:106185215C>T uc004emu.3 - 16 2856 c.2613G>A c.(2611-2613)CAG>CAA p.Q871Q MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Silent_p.Q871Q|MORC4_uc004emw.3_Silent_p.Q619Q NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 871 Potential. ATP binding|zinc ion binding ovary(1) 1 CCTGAGCCTTCTGCAGCATTT 0.453 CHRDL1 91851 broad.mit.edu 37 X 109931837 109931837 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:109931837C>T uc004eou.3 - 9 1322 c.973G>A c.(973-975)GGT>AGT p.G325S CHRDL1_uc004eov.2_Missense_Mutation_p.E319K|CHRDL1_uc004eow.2_Missense_Mutation_p.G324S|CHRDL1_uc010nps.2_Missense_Mutation_p.G324S|CHRDL1_uc004eot.2_Missense_Mutation_p.G245S|CHRDL1_uc011mss.1_Missense_Mutation_p.G239S NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 318 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 GCTTTTTTACCTGGACACACC 0.428 CHRDL1 91851 broad.mit.edu 37 X 110005996 110005996 + Missense_Mutation SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:110005996C>T uc004eou.3 - 3 483 c.134G>A c.(133-135)AGA>AAA p.R45K CHRDL1_uc004eov.2_Missense_Mutation_p.R39K|CHRDL1_uc004eow.2_Missense_Mutation_p.R45K|CHRDL1_uc010nps.2_Missense_Mutation_p.R45K|CHRDL1_uc004eot.2_Missense_Mutation_p.R45K|CHRDL1_uc011mss.1_Missense_Mutation_p.R39K|CHRDL1_uc004eox.3_Missense_Mutation_p.R39K NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 39 VWFC 1. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 CTCACCCACTCTGTACTTCTT 0.423 HTR2C 3358 broad.mit.edu 37 X 114141456 114141456 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:114141456C>T uc004epu.1 + 6 1583 c.855C>T c.(853-855)AAC>AAT p.N285N HTR2C_uc010nqc.1_Silent_p.N285N|HTR2C_uc004epv.1_3'UTR NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 285 Cytoplasmic (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) AAGACCAGAACGCACGCCGAA 0.498 ZCCHC12 170261 broad.mit.edu 37 X 117960020 117960020 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:117960020C>T uc004equ.2 + 4 1286 c.813C>T c.(811-813)GAC>GAT p.D271D NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 ATACCCTCGACGACTCCGATG 0.582 OCRL 4952 broad.mit.edu 37 X 128724180 128724180 + Missense_Mutation SNP C C A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:128724180C>A uc004euq.2 + 24 2804 c.2639C>A c.(2638-2640)ACT>AAT p.T880N OCRL_uc004eur.2_Missense_Mutation_p.T872N|OCRL_uc010nrb.2_RNA NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 880 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 GCAAGACAGACTCCAAGTGAC 0.483 RBMX2 51634 broad.mit.edu 37 X 129546425 129546425 + Missense_Mutation SNP G G A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:129546425G>A uc004evt.2 + 6 636 c.572G>A c.(571-573)CGC>CAC p.R191H NM_016024 NP_057108 Q9Y388 RBMX2_HUMAN RNA binding motif protein, X-linked 2 191 Lys-rich. nucleotide binding|RNA binding breast(3)|ovary(1) 4 TCACCCAGACGCAAGACAGTA 0.453 IGSF1 3547 broad.mit.edu 37 X 130408789 130408789 + Missense_Mutation SNP T T C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:130408789T>C uc004ewd.2 - 18 3773 c.3535A>G c.(3535-3537)ATC>GTC p.I1179V IGSF1_uc004ewe.3_Missense_Mutation_p.I1173V|IGSF1_uc004ewf.2_Missense_Mutation_p.I1159V NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1179 Extracellular (Potential).|Ig-like C2-type 12. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 TGAAGGGTGATGTCCTTCCCT 0.493 MAGEC1 9947 broad.mit.edu 37 X 140995387 140995387 + Missense_Mutation SNP G G T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:140995387G>T uc004fbt.2 + 4 2483 c.2197G>T c.(2197-2199)GGG>TGG p.G733W MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 733 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCCTCAGGGGGAGGACTT 0.547 HNSCC(15;0.026) SLITRK2 84631 broad.mit.edu 37 X 144904763 144904763 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:144904763A>G uc004fcd.2 + 5 1810 c.820A>G c.(820-822)AGG>GGG p.R274G SLITRK2_uc010nsp.2_Missense_Mutation_p.R274G|SLITRK2_uc010nso.2_Missense_Mutation_p.R274G|SLITRK2_uc011mwq.1_Missense_Mutation_p.R274G|SLITRK2_uc011mwr.1_Missense_Mutation_p.R274G|SLITRK2_uc011mws.1_Missense_Mutation_p.R274G|SLITRK2_uc004fcg.2_Missense_Mutation_p.R274G|SLITRK2_uc011mwt.1_Missense_Mutation_p.R274G NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 274 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TTCCAGTCAGAGGGGCAGCCA 0.557 GABRA3 2556 broad.mit.edu 37 X 151376568 151376568 + Missense_Mutation SNP T T G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:151376568T>G uc010ntk.1 - 7 923 c.683A>C c.(682-684)AAC>ACC p.N228T NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 228 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CACGGATTTGTTCTTTCCGAG 0.438 NSDHL 50814 broad.mit.edu 37 X 152037483 152037483 + Missense_Mutation SNP T T A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:152037483T>A uc004fgt.1 + 9 1206 c.945T>A c.(943-945)AGT>AGA p.S315R NSDHL_uc004fgs.1_Missense_Mutation_p.S315R NM_001129765 NP_001123237 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 315 Helical; (Potential). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity 0 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) TGGTGATCAGTCCTGTCATCC 0.587 DNASE1L1 1774 broad.mit.edu 37 X 153631964 153631964 + Splice_Site SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:153631964C>T uc004fks.1 - 5 503 c.312_splice c.e5-1 p.R104_splice RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_3'UTR|DNASE1L1_uc004fkt.1_Splice_Site_p.R104_splice|DNASE1L1_uc004fku.1_Splice_Site_p.R104_splice|DNASE1L1_uc004fkv.1_Splice_Site_p.R104_splice|DNASE1L1_uc004fkw.1_Splice_Site_p.R104_splice NM_006730 NP_006721 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 precursor DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters 0 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) TTTGTGTGACCTGGGAGGACA 0.567 IL9R 3581 broad.mit.edu 37 X 155232611 155232611 + Silent SNP C C T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:155232611C>T uc004fnv.1 + 2 248 c.69C>T c.(67-69)GGC>GGT p.G23G IL9R_uc010nvn.2_Silent_p.G2G|IL9R_uc004fnu.1_Silent_p.G70G NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 23 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GAGACATGGGCACCTGGCTCC 0.612 NLGN4Y 22829 broad.mit.edu 37 Y 16953056 16953056 + Missense_Mutation SNP A A G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrY:16953056A>G uc004ftg.2 + 6 2617 c.2365A>G c.(2365-2367)ATG>GTG p.M789V NLGN4Y_uc004fte.2_Missense_Mutation_p.M621V|NLGN4Y_uc011nas.1_Missense_Mutation_p.M809V|NLGN4Y_uc004ftf.2_Missense_Mutation_p.M482V|NLGN4Y_uc004fth.2_Missense_Mutation_p.M789V NM_014893 NP_055708 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked isoform 1 789 Cytoplasmic (Potential). brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity 0 ATTGATGGGGATGCAGCCTTT 0.483 TMEM143 55260 broad.mit.edu 37 19 48835272 48835272 + RNA DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:48835272delA uc002piw.1 - 6 c.2395delT Q96AN5 TM143_HUMAN Homo sapiens cDNA FLJ10922 fis, clone OVARC1000420. integral to membrane|mitochondrion 0 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) tctcaagaacaaaaaaaaaTC 0.229 CCNL2 81669 broad.mit.edu 37 1 1325840 1325840 + Splice_Site DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:1325839_1325839CT>C uc001afi.2 - 7 896 c.864_splice c.e7+1 p.K288_splice CCNL2_uc010nym.1_Splice_Site|CCNL2_uc001aff.1_Splice_Site_p.K66_splice|CCNL2_uc001afg.1_Splice_Site_p.K66_splice|CCNL2_uc001afj.2_Splice_Site_p.K66_splice NM_030937 NP_112199 Q96S94 CCNL2_HUMAN Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA. 288 RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) GCCGAAGAACCTTTTTCCGAG 0.433 TNFRSF9 3604 broad.mit.edu 37 1 7998254 7998254 + Splice_Site DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:7998253_7998253CT>C uc001aot.3 - 5 607 c.346_splice c.e5+1 p.G116_splice NM_001561 NP_001552 Q07011 TNR9_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA. 116 induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity p.G116S(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) GCAAACGTACCTTTTTTTGTC 0.408 AKNAD1 254268 broad.mit.edu 37 1 109369927 109369927 + Splice_Site DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:109369926_109369926TA>T uc001dwa.3 - 11 2108 c.1839_splice c.e11-1 p.W613_splice AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA. 613 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TTTTGCTTCCTAAAAAAAGGT 0.378 PSME4 23198 broad.mit.edu 37 2 54167140 54167140 + Splice_Site DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:54167139_54167139TG>T uc002rxp.2 - 4 557 c.501_splice c.e4-1 p.N167_splice PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA. 167 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCTACAGAACTGGGGGGGGAA 0.348 SLC17A1 6568 broad.mit.edu 37 6 25830753 25830754 + Splice_Site INS - - T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:25830752_25830753C>CT uc003nfh.4 - 2 150 c.34_splice c.e2+1 p.V12_splice SLC17A1_uc011djy.2_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.V12_splice|SLC17A1_uc010jqc.1_Splice_Site_p.V10_splice NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 12 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity p.K11K(1)|p.V12L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AAAGTGCTACCTTTTTTGGGAG 0.401 MYOF 26509 broad.mit.edu 37 10 95113648 95113648 + Splice_Site DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:95113647_95113647TA>T uc001kin.3 - 32 3527 c.3404_splice c.e32-1 p.R1135_splice MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA. 1135 C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGTAGACTCCTAAAAAAACAG 0.343 MCRS1 10445 broad.mit.edu 37 12 49959312 49959314 + Splice_Site DEL CTT CTT - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:49959311_49959313CCTT>C uc001rui.1 - 3 327 c.327_splice c.e3+1 p.K109_splice MCRS1_uc001ruj.2_Splice_Site_p.K83_splice|MCRS1_uc001ruk.1_Splice_Site_p.K96_splice|MCRS1_uc009zlj.1_Splice_Site NM_001012300 NP_001012300 Q96EZ8 MCRS1_HUMAN Homo sapiens microspherule protein 1 (MCRS1), transcript variant 2, mRNA. 96 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex|cytoplasm|nucleolus protein binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11) 23 CAATTCCTCACCTTCTTCTTCTC 0.581 ERN2 10595 broad.mit.edu 37 16 23702513 23702524 + Splice_Site DEL CAGATCTGTGGA CAGATCTGTGGA - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:23702512_23702523TCAGATCTGTGGA>T uc002dma.4 - 21 2814 c.2645_splice c.e21-1 p.D882_splice ERN2_uc010bxp.3_Splice_Site_p.D830_splice NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 834 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CGGAACTTTCTCAGATCTGTGGACAGGGAATT 0.608 NDRG3 57446 broad.mit.edu 37 20 35284817 35284817 + Splice_Site DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:35284816_35284816TG>T uc002xfw.3 - 15 1037 c.895_splice c.e15-1 p.P299_splice NDRG3_uc002xfx.3_Splice_Site_p.P287_splice|NDRG3_uc010zvq.2_Splice_Site_p.P204_splice|NDRG3_uc010zvr.2_Splice_Site_p.P187_splice NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA. 299 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) CTTCCCAGGCTGGGGGGATAA 0.423 ZC3H4 23211 broad.mit.edu 37 19 47570462 47570462 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:47570462delG uc002pga.3 - 15 3101 c.3063delC c.(3061-3063)CCCfs p.P1021fs ZC3H4_uc002pgb.1_RNA NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1021 nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GCCGGGCGTTGGGGGGCCCTG 0.701 GCM2 9247 broad.mit.edu 37 6 10876680 10876681 + Frame_Shift_Ins INS - - A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:10876680_10876681insA uc003mzn.3 - 3 525_526 c.453_454insT c.(451-456)TTTCAGfs p.F151fs SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN glial cells missing homolog 2 151_152 GCM. cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TGACCTACCTGAAAAAAGATCG 0.500 CCNL2 81669 broad.mit.edu 37 1 1325840 1325840 + Splice_Site DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:1325839_1325839CT>C uc001afi.2 - 7 896 c.864_splice c.e7+1 p.K288_splice CCNL2_uc010nym.1_Splice_Site|CCNL2_uc001aff.1_Splice_Site_p.K66_splice|CCNL2_uc001afg.1_Splice_Site_p.K66_splice|CCNL2_uc001afj.2_Splice_Site_p.K66_splice NM_030937 NP_112199 Q96S94 CCNL2_HUMAN Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA. 288 RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) GCCGAAGAACCTTTTTCCGAG 0.433 TNFRSF9 3604 broad.mit.edu 37 1 7998254 7998254 + Splice_Site DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:7998253_7998253CT>C uc001aot.3 - 5 607 c.346_splice c.e5+1 p.G116_splice NM_001561 NP_001552 Q07011 TNR9_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA. 116 induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity p.G116S(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) GCAAACGTACCTTTTTTTGTC 0.408 UBR4 23352 broad.mit.edu 37 1 19433102 19433103 + Frame_Shift_Ins INS - - G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:19433101_19433102A>AG uc001bbi.3 - 82 12358_12359 c.12354_12355T>CT c.(12352-12357)cccttgfs p.P4118fs UBR4_uc001bbg.3_5'Flank|UBR4_uc001bbh.3_5'Flank NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 4118 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTGAGATCCAAGGGGGAGGTCC 0.554 ARID1A 8289 broad.mit.edu 37 1 27100176 27100176 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:27100175_27100175AC>A uc001bmv.1 + 15 4344 c.3971_3971AC>A c.(3970-3972)tacfs p.Y1324fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1324 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.Y1324fs*1(2)|p.Y1324*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTAGCCGCTACCCCCCgcag 0.602 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" ARID1A 8289 broad.mit.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:27105930_27105930TG>T uc001bmv.1 + 19 5914 c.5541_5541TG>T c.(5539-5541)ggtfs p.G1847fs ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1847 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.G1848fs*6(3)|p.G1847fs*36(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCGGATTGGTGGGGGGGACA 0.582 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" MAP7D1 55700 broad.mit.edu 37 1 36636764 36636765 + Frame_Shift_Ins INS - - C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:36636763_36636764G>GC uc001bzz.3 + 1 454_455 c.238_239G>GC c.(238-240)gccfs p.A80fs MAP7D1_uc001caa.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cab.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cac.3_5'Flank NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA. 80 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GCCTAGGCCAGCCCCCCCGCAG 0.653 PIK3R3 8503 broad.mit.edu 37 1 46521525 46521525 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:46521524_46521524AT>A uc010olw.2 - 6 1039 c.1022_1022AT>T c.(1021-1023)atgfs p.M341fs PIK3R3_uc001cpb.4_Frame_Shift_Del_p.M295fs|PIK3R3_uc009vyb.3_Intron|PIK3R3_uc009vyc.3_Frame_Shift_Del_p.M312fs|PIK3R3_uc001cpc.4_Frame_Shift_Del_p.M295fs|PIK3R3_uc010olv.2_Frame_Shift_Del_p.M85fs NM_003629 NP_003620 Q92569 P55G_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA. 295 T cell costimulation|insulin receptor signaling pathway|platelet activation 1-phosphatidylinositol-3-kinase activity|protein binding p.M295T(2) endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) GATGCTATTCATTTTTTTATC 0.428 FAAH 2166 broad.mit.edu 37 1 46871336 46871336 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:46871335_46871335AG>A uc001cpu.2 + 4 736 c.654_654AG>A c.(652-654)tcafs p.S218fs FAAH_uc001cpv.2_Non-coding_Transcript NM_001441 NP_001432 O00519 FAAH1_HUMAN Homo sapiens fatty acid amide hydrolase (FAAH), mRNA. 218 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity p.S218S(2) breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) GGGGCTCCTCAGGGGGTGAAG 0.622 WLS 79971 broad.mit.edu 37 1 68603558 68603558 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:68603557_68603557GA>G uc001dee.3 - 10 1718 c.1416_1416TC>C c.(1414-1416)ttcfs p.F472fs GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Frame_Shift_Del_p.F474fs|WLS_uc001deg.2_Frame_Shift_Del_p.F383fs|WLS_uc009wbf.1_Frame_Shift_Del_p.F429fs NM_001002292 NP_001002292 Q5T9L3 WLS_HUMAN Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA. 474 Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway Golgi membrane|cytoplasmic vesicle membrane|integral to membrane signal transducer activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1) 20 AGATGCCTGTGAAAAAGGCAC 0.458 HIAT1 64645 broad.mit.edu 37 1 100534034 100534034 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:100534033_100534033TA>T uc001dst.3 + 6 710 c.710_710TA>T c.(709-711)ttafs p.L237fs NM_033055 NP_149044 Q96MC6 HIAT1_HUMAN Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA. 237 transmembrane transport integral to membrane|plasma membrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) TTCTAGTCCTTAAAAAAAGTC 0.388 NTNG1 22854 broad.mit.edu 37 1 107937876 107937878 + In_Frame_Del DEL AAG AAG - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:107937875_107937877CAAG>C uc001dvh.4 + 3 1705_1707 c.987_989CAAG>C c.(985-990)tgcaag>tgCg p.K331del NTNG1_uc001dvc.4_In_Frame_Del_p.K331del|NTNG1_uc010out.2_In_Frame_Del_p.K331del|NTNG1_uc001dvf.4_In_Frame_Del_p.K331del|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_In_Frame_Del_p.Q2del|NTNG1_uc001dvd.1_In_Frame_Del_p.K331del NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA. 331 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GTGGGAAATGCAAGAAGAATTAT 0.473 ADCY10 55811 broad.mit.edu 37 1 167778958 167778959 + Frame_Shift_Ins INS - - T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:167778957_167778958G>GT uc001ger.3 - 32 5088_5089 c.4790_4791C>AC c.(4789-4791)aacfs p.N1597fs ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Frame_Shift_Ins_p.N1444fs|ADCY10_uc009wvk.3_Frame_Shift_Ins_p.N1505fs NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 1597 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TCAGGAATTTGTTTTTTTGAAG 0.351 C1orf114 57821 broad.mit.edu 37 1 169388360 169388360 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:169388359_169388359CT>C uc001gga.1 - 3 1275 c.1107_1107AG>G c.(1105-1107)aagfs p.K369fs C1orf114_uc001gfz.1_Frame_Shift_Del_p.K369fs|C1orf114_uc009wvq.1_Frame_Shift_Del_p.K369fs|C1orf114_uc001ggb.3_Frame_Shift_Del_p.K369fs NM_021179 NP_067002 Q5TID7 CA114_HUMAN Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA. 369 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3) 22 all_hematologic(923;0.208) CATTCTCTCTCTTTTTTTCTT 0.328 NCF2 4688 broad.mit.edu 37 1 183559359 183559359 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:183559358_183559358TG>T uc001gqj.4 - 0 382 c.107_107CA>A c.(106-108)cacfs p.H36fs NCF2_uc010pod.2_Frame_Shift_Del_p.H36fs|NCF2_uc010poe.2_Frame_Shift_Del_p.H36fs|NCF2_uc001gqk.4_Frame_Shift_Del_p.H36fs NM_000433 NP_001121123 P19878 NCF2_HUMAN Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA. 36 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 AATCCGGGAGTGGGGGTCCTG 0.577 ZBTB41 360023 broad.mit.edu 37 1 197144238 197144238 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr1:197144237_197144237CT>C uc001gtx.1 - 7 1957 c.1888_1888AG>G c.(1888-1890)gctfs p.A630fs ZBTB41_uc009wyz.1_Non-coding_Transcript NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA. 630 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 CACTGATGAGCTTTTTCACCT 0.348 GGCX 2677 broad.mit.edu 37 2 85780609 85780611 + In_Frame_Del DEL AGG AGG - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:85780608_85780610TAGG>T uc002sps.3 - 7 1006_1008 c.900_902CCTA>A c.(898-903)tcctac>tcAc p.Y301del GGCX_uc010yss.2_In_Frame_Del_p.Y140del|GGCX_uc010yst.2_In_Frame_Del_p.Y244del NM_000821 NP_000812 P38435 VKGC_HUMAN Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA. 301 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) CAGCATGACGTAGGAGAACATAC 0.552 ANKRD23 200539 broad.mit.edu 37 2 97507821 97507822 + Frame_Shift_Ins INS - - G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:97507820_97507821T>TG uc002sxa.3 - 2 305_306 c.276_277A>CA c.(274-279)cccaggfs p.P92fs ANKRD23_uc002sxb.3_Non-coding_Transcript|ANKRD23_uc002sxc.3_Frame_Shift_Ins_p.P92fs NM_144994 NP_659431 Q86SG2 ANR23_HUMAN Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA. 92 nucleus endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1) 9 TCAGGTTTCCTGGGGGGGACTC 0.530 TMEM131 23505 broad.mit.edu 37 2 98475776 98475777 + Frame_Shift_Ins INS - - A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:98475775_98475776G>GA uc002syh.4 - 4 703_704 c.474_475C>TC c.(472-477)tttcaafs p.F158fs TMEM131_uc010yvg.1_Non-coding_Transcript NM_015348 NP_056163 Q92545 TM131_HUMAN Homo sapiens transmembrane protein 131 (TMEM131), mRNA. 158 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 ACCCTATTTTGAAAAAATGATG 0.297 MKI67IP 84365 broad.mit.edu 37 2 122494356 122494356 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:122494355_122494355CT>C uc002tnk.3 - 0 149 c.72_72AG>G c.(70-72)aagfs p.K24fs MKI67IP_uc010fls.3_Frame_Shift_Del_p.K24fs NM_032390 NP_115766 Q9BYG3 MK67I_HUMAN Homo sapiens MKI67 (FHA domain) interacting nucleolar phosphoprotein (MKI67IP), mRNA. 24 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm RNA binding|nucleotide binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 GCGCCACCTCCTTTTGAAACT 0.627 LRP2 4036 broad.mit.edu 37 2 170127462 170127462 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:170127461_170127461GA>G uc002ues.3 - 15 2486 c.2273_2273TC>C c.(2272-2274)tcafs p.S758fs LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 758 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGACATATCTGAAAAAAAGAT 0.418 CYP20A1 57404 broad.mit.edu 37 2 204150380 204150380 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:204150379_204150379CA>C uc010zif.2 + 8 1541 c.919_919CA>C c.(919-921)caafs p.Q307fs CYP20A1_uc002uzv.4_Frame_Shift_Del_p.Q299fs|CYP20A1_uc002uzx.4_Frame_Shift_Del_p.Q197fs|CYP20A1_uc002uzy.4_Frame_Shift_Del_p.Q197fs|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_Frame_Shift_Del_p.Q29fs NM_177538 NP_803882 Q6UW02 CP20A_HUMAN Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA. 299 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 TGAAGAAGTTCAAAAAAAATT 0.348 ERBB4 2066 broad.mit.edu 37 2 213403254 213403254 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:213403253_213403253AT>A uc002veg.1 - 0 100 c.2_2AT>T c.(1-3)atgfs p.M1fs ERBB4_uc002veh.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010fut.1_Frame_Shift_Del_p.M1fs NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 1 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CGCCGGCTTCATTTTTTGGAA 0.612 TSP Lung(8;0.080) IRS1 3667 broad.mit.edu 37 2 227661341 227661341 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:227661340_227661340GC>G uc021vxn.1 - 0 2115 c.2115_2115GC>C c.(2113-2115)ggcfs p.G705fs IRS1_uc002voh.4_Frame_Shift_Del_p.G705fs NM_005544 NP_005535 P35568 IRS1_HUMAN Homo sapiens insulin receptor substrate 1 (IRS1), mRNA. 705 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity p.G704R(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GAGAGTGGTGGCCCCCTACCC 0.597 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TRIP12 9320 broad.mit.edu 37 2 230724116 230724117 + Frame_Shift_Ins INS - - T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:230724115_230724116G>GT uc002vpx.1 - 3 508_509 c.399_400C>AC c.(397-402)aaaccafs p.K133fs TRIP12_uc021vxw.1_Frame_Shift_Ins_p.K91fs|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Frame_Shift_Ins_p.K91fs|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Frame_Shift_Ins_p.K91fs NM_004238 NP_004229 Q14669 TRIPC_HUMAN Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA. 91 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AGTGCTTTTGGTTTTTTTGCAG 0.436 HDLBP 3069 broad.mit.edu 37 2 242179467 242179467 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr2:242179466_242179466GC>G uc002waz.3 - 17 2414 c.2241_2241GC>C c.(2239-2241)ggcfs p.G747fs HDLBP_uc002wba.3_Frame_Shift_Del_p.G747fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.G714fs NM_203346 NP_976221 Q00341 VIGLN_HUMAN Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA. 747 KH 9. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane RNA binding|lipid binding|protein binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GAATTTTGCCGCCCCCCTTGC 0.547 TATDN2 9797 broad.mit.edu 37 3 10312539 10312539 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:10312538_10312538TG>T uc011atr.2 + 3 2253 c.1672_1672TG>T c.(1672-1674)tggfs p.W558fs TATDN2_uc003bvg.2_Frame_Shift_Del_p.W558fs|TATDN2_uc003bvf.3_Frame_Shift_Del_p.W558fs|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript NM_014760 NP_055575 Q93075 TATD2_HUMAN Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA. 558 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GGATCTGGTCTGGGGGGCCTT 0.507 TMEM43 79188 broad.mit.edu 37 3 14175292 14175293 + Frame_Shift_Ins INS - - G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:14175291_14175292A>AG uc003byk.2 + 6 819_820 c.565_566A>AG c.(565-567)aggfs p.R189fs TMEM43_uc003byl.1_Frame_Shift_Ins_p.R69fs NM_024334 NP_077310 Q9BTV4 TMM43_HUMAN Homo sapiens transmembrane protein 43 (TMEM43), mRNA. 189 Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2) 19 CCAAATTGGCAGGTTTTTCCTC 0.589 KCNH8 131096 broad.mit.edu 37 3 19492702 19492704 + In_Frame_Del DEL AGG AGG - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:19492701_19492703AAGG>A uc003cbk.1 + 9 1825_1827 c.1630_1632AAGG>A c.(1630-1632)aag>A p.K544del KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_In_Frame_Del_p.K5del|KCNH8_uc011awf.1_3'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA. 544 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 GCACTTGAACAAGGAGATCTTAC 0.463 EOMES 8320 broad.mit.edu 37 3 27761703 27761703 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:27761702_27761702GC>G uc003cdy.3 - 1 996 c.996_996GC>C c.(994-996)ggcfs p.G332fs EOMES_uc003cdx.3_Frame_Shift_Del_p.G332fs|EOMES_uc010hfn.2_Frame_Shift_Del_p.G332fs|EOMES_uc011axc.1_Frame_Shift_Del_p.G37fs NM_005442 NP_005433 O95936 EOMES_HUMAN Homo sapiens eomesodermin (EOMES), mRNA. 332 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 breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 TCACCCATTTGCCCCCCTGGA 0.577 TTC21A 199223 broad.mit.edu 37 3 39177852 39177852 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:39177851_39177851AT>A uc003cjc.2 + 22 3146 c.2969_2969AT>A c.(2968-2970)aatfs p.N990fs TTC21A_uc011ayx.1_Frame_Shift_Del_p.N942fs|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc003cjf.2_Frame_Shift_Del_p.N111fs NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA. 990 binding p.P989T(1)|p.P989Q(1)|p.P989K(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) ATTTTAGACAATTTTTTGGTA 0.438 ROBO2 6092 broad.mit.edu 37 3 77684125 77684125 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:77684124_77684124TA>T uc011bgk.2 + 24 4519 c.3876_3876TA>T c.(3874-3876)actfs p.T1292fs ROBO2_uc021xat.1_Frame_Shift_Del_p.T1304fs|ROBO2_uc003dpy.4_Frame_Shift_Del_p.T1288fs|ROBO2_uc003dpz.3_Frame_Shift_Del_p.T1353fs|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 1288 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CTCGGCCCACTAAAAAACACA 0.502 DHX36 170506 broad.mit.edu 37 3 154010357 154010358 + Frame_Shift_Del DEL TC TC - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:154010356_154010357TTC>T uc003ezy.4 - 14 1878_1879 c.1797_1798GAA>A c.(1795-1800)agaaaafs p.R599fs DHX36_uc010hvq.3_Frame_Shift_Del_p.R585fs|DHX36_uc003ezz.4_Frame_Shift_Del_p.R599fs NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA. 599 Helicase C-terminal. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GCTCGACCTTTTCTCTGTTTGG 0.366 LRRC31 79782 broad.mit.edu 37 3 169557805 169557805 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr3:169557804_169557804CT>C uc003fgc.1 - 8 1690 c.1625_1625AG>G c.(1624-1626)agafs p.R542fs LRRC31_uc010hwp.1_Frame_Shift_Del_p.R486fs NM_024727 NP_079003 Q6UY01 LRC31_HUMAN Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA. 542 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) GTGAATGCTTCTTTTTTTATC 0.408 SLC30A9 10463 broad.mit.edu 37 4 42037307 42037307 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:42037306_42037306CA>C uc003gwl.3 + 6 771 c.625_625CA>C c.(625-627)caafs p.Q209fs SLC30A9_uc011byx.2_5'UTR NM_006345 NP_006336 Q6PML9 ZNT9_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA. 209 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATTTAGAAACCAAAAAATATT 0.303 SRD5A3 79644 broad.mit.edu 37 4 56225516 56225516 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:56225515_56225515AT>A uc003hau.3 + 1 340 c.224_224AT>A c.(223-225)tatfs p.Y75fs NM_024592 NP_078868 Q9H8P0 PORED_HUMAN Homo sapiens steroid 5 alpha-reductase 3 (SRD5A3), mRNA. 75 androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) TTTTGCAGATATTTTTCCCAC 0.433 SRP72 6731 broad.mit.edu 37 4 57340350 57340350 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:57340349_57340349GA>G uc003hbv.3 + 3 524 c.484_484GA>G c.(484-486)gaafs p.E162fs SRP72_uc010ihe.3_Frame_Shift_Del_p.E162fs NM_006947 NP_008878 O76094 SRP72_HUMAN Homo sapiens signal recognition particle 72kDa (SRP72), mRNA. 162 SRP-dependent cotranslational protein targeting to membrane|response to drug cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) AAGCAATTGGGAAAAAGTGGT 0.398 TRAM1L1 133022 broad.mit.edu 37 4 118005517 118005518 + Frame_Shift_Ins INS - - T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:118005516_118005517C>CT uc003ibv.4 - 0 1220_1221 c.1033_1034G>AG c.(1033-1035)agafs p.R345fs NM_152402 NP_689615 Q8N609 TR1L1_HUMAN Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA. 345 protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 GTTTTCTGTTCTTTTTTTAGAA 0.386 MAD2L1 4085 broad.mit.edu 37 4 120981393 120981393 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:120981392_120981392AT>A uc003idl.2 - 4 623 c.499_499AT>T c.(499-501)tggfs p.W167fs MAD2L1_uc003idm.2_3'UTR NM_002358 NP_002349 Q13257 MD2L1_HUMAN Homo sapiens MAD2 mitotic arrest deficient-like 1 (yeast) (MAD2L1), mRNA. 167 HORMA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity p.W167L(1) breast(2)|kidney(2)|large_intestine(2)|lung(3) 9 GACTCTTCCCATTTTTCAGGT 0.358 HMGB2 3148 broad.mit.edu 37 4 174254712 174254714 + In_Frame_Del DEL TTC TTC - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:174254711_174254713TTTC>T uc011ckc.1 - 0 208_210 c.88_90GAAA>A c.(88-90)aaa>A p.K30del HMGB2_uc003ita.3_In_Frame_Del_p.K30del|HMGB2_uc003itb.2_In_Frame_Del_p.K30del NM_001130689 NP_002120 P26583 HMGB2_HUMAN Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA. 30 DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) AGTCCGGGTGTTTCTTCTTGTGC 0.567 TLR3 7098 broad.mit.edu 37 4 186997805 186997806 + Frame_Shift_Ins INS - - G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr4:186997804_186997805T>TG uc003iyq.3 + 1 132_133 c.31_32T>TG c.(31-33)tggfs p.W11fs NM_003265 NP_003256 O15455 TLR3_HUMAN Homo sapiens toll-like receptor 3 (TLR3), mRNA. 11 I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TATCTACTTTTGGGGGGGCCTT 0.446 ZNF608 57507 broad.mit.edu 37 5 123984684 123984684 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:123984683_123984683GC>G uc003ktq.1 - 3 1577 c.1394_1394GC>C c.(1393-1395)gccfs p.A465fs ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.A465fs NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN Homo sapiens zinc finger protein 608 (ZNF608), mRNA. 465 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TTTCCCATTGGCCCCCCCTCT 0.627 SPINK5 11005 broad.mit.edu 37 5 147478860 147478860 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:147478859_147478859GA>G uc003lox.2 + 11 1146 c.1073_1073GA>G c.(1072-1074)ggafs p.G358fs SPINK5_uc010jgs.1_Frame_Shift_Del_p.G330fs|SPINK5_uc010jgr.2_Frame_Shift_Del_p.G339fs|SPINK5_uc003low.2_Frame_Shift_Del_p.G358fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.G358fs NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 358 anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGAATCTGGAAAAGCAACC 0.378 SLC26A2 1836 broad.mit.edu 37 5 149357647 149357647 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:149357646_149357646CT>C uc003lrh.3 + 1 699 c.431_431CT>C c.(430-432)tctfs p.S144fs NM_000112 NP_000103 P50443 S26A2_HUMAN Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA. 144 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CTGTACACATCTTTTTTTGCC 0.463 WWC1 23286 broad.mit.edu 37 5 167895969 167895969 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr5:167895968_167895968AT>A uc003lzu.3 + 22 3381 c.3288_3288AT>A c.(3286-3288)gcafs p.A1096fs WWC1_uc003lzv.3_Frame_Shift_Del_p.A1101fs|WWC1_uc011den.2_Frame_Shift_Del_p.A1102fs|WWC1_uc003lzw.3_Frame_Shift_Del_p.A894fs NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA. 1096 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AGAAGATGGCATTTTTCACCC 0.488 GCM2 9247 broad.mit.edu 37 6 10876681 10876682 + Frame_Shift_Ins INS - - A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:10876680_10876681G>GA uc003mzn.4 - 2 525_526 c.453_454C>TC c.(451-456)tttcagfs p.F151fs SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA. 151 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TGACCTACCTGAAAAAAGATCG 0.500 KIF13A 63971 broad.mit.edu 37 6 17788023 17788023 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:17788022_17788022CT>C uc003ncg.4 - 26 3506 c.3346_3346AG>G c.(3346-3348)gtcfs p.V1116fs KIF13A_uc003ncf.3_Frame_Shift_Del_p.V1103fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.V1116fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.V1103fs NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. 1116 Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTATTGCTGACTTTTTTTATC 0.418 SLC17A1 6568 broad.mit.edu 37 6 25830753 25830754 + Splice_Site INS - - T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:25830752_25830753C>CT uc003nfh.4 - 2 150 c.34_splice c.e2+1 p.V12_splice SLC17A1_uc011djy.2_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.V12_splice|SLC17A1_uc010jqc.1_Splice_Site_p.V10_splice NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 12 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity p.K11K(1)|p.V12L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AAAGTGCTACCTTTTTTGGGAG 0.401 DDX43 55510 broad.mit.edu 37 6 74117732 74117732 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:74117731_74117731TA>T uc003pgw.3 + 8 1430 c.1086_1086TA>T c.(1084-1086)cttfs p.L362fs DDX43_uc011dyn.1_Non-coding_Transcript NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA. 362 Helicase ATP-binding. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TAGAAGAGCTTAAAAAAGGTG 0.323 KIAA0408 9729 broad.mit.edu 37 6 127767596 127767597 + Frame_Shift_Ins INS - - C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:127767595_127767596T>TC uc011ebs.2 - 4 2204_2205 c.1868_1869A>GA c.(1867-1869)ggafs p.G623fs KIAA0408_uc003qbc.3_Frame_Shift_Ins_p.G623fs|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Intron|KIAA0408_uc003qbb.3_Frame_Shift_Ins_p.G506fs NM_014702 NP_055517 Q6ZU52 K0408_HUMAN Homo sapiens KIAA0408 (KIAA0408), mRNA. 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TCACTTCCTGTCCCCCCCACAC 0.401 IFNGR1 3459 broad.mit.edu 37 6 137527319 137527320 + Frame_Shift_Ins INS - - T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:137527318_137527319C>CT uc003qho.2 - 2 430_431 c.327_328G>AG c.(325-330)aaagaafs p.K109fs IFNGR1_uc011edm.1_Frame_Shift_Ins_p.K81fs|IFNGR1_uc011edn.1_Frame_Shift_Ins_p.K99fs NM_000416 NP_000407 P15260 INGR1_HUMAN Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA. 109 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) TAGGCAGATTCTTTTTGTCCAA 0.347 TNFAIP3 7128 broad.mit.edu 37 6 138199674 138199675 + Frame_Shift_Del DEL GA GA - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr6:138199673_138199674GGA>G uc003qhr.3 + 6 1157_1158 c.1091_1092GGA>G c.(1090-1092)aggfs p.R364fs TNFAIP3_uc003qhs.3_Frame_Shift_Del_p.R364fs|TNFAIP3_uc021zfv.1_5'UTR NM_006290 NP_006281 P21580 TNAP3_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA. 364 B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.R364G(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) GAGCAGGGGAGGAGAGAGGGGC 0.475 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" AHR 196 broad.mit.edu 37 7 17379636 17379636 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:17379635_17379635AC>A uc011jxz.1 + 9 2799 c.2186_2186AC>A c.(2185-2187)tacfs p.Y729fs NM_001621 NP_001612 P35869 AHR_HUMAN Homo sapiens aryl hydrocarbon receptor (AHR), mRNA. 729 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) CCATCCCCATACCCCACTACT 0.393 RAPGEF5 9771 broad.mit.edu 37 7 22175700 22175700 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:22175699_22175699CT>C uc003svg.3 - 22 2227 c.1914_1914AG>G c.(1912-1914)aagfs p.K638fs RAPGEF5_uc011jyl.1_Frame_Shift_Del_p.K319fs NM_012294 NP_036426 Q92565 RPGF5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA. 488 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 GTGGCTTCATCTTTTTGAATG 0.338 SUN3 256979 broad.mit.edu 37 7 48068494 48068494 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:48068493_48068493TA>T uc003tof.3 - 1 140 c.43_43TA>A c.(43-45)agafs p.R15fs SUN3_uc003tog.3_Frame_Shift_Del_p.R15fs|SUN3_uc011kcf.2_5'UTR NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA. 15 integral to membrane central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAGCAACGTCTAAAAAACATG 0.473 PCLO 27445 broad.mit.edu 37 7 82578856 82578857 + Frame_Shift_Ins INS - - T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:82578855_82578856C>CT uc003uhx.2 - 5 11337_11338 c.11048_11049G>AG c.(11047-11049)aagfs p.K3683fs PCLO_uc003uhv.2_Frame_Shift_Ins_p.K3683fs|PCLO_uc010lec.3_Frame_Shift_Ins_p.K648fs NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3614 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GACTCAGAGGCTTGGGGTCAGA 0.475 CBLL1 79872 broad.mit.edu 37 7 107399402 107399402 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:107399401_107399401AC>A uc003veq.3 + 5 1584 c.1254_1254AC>A c.(1252-1254)gcafs p.A418fs CBLL1_uc011kme.2_Frame_Shift_Del_p.A297fs|CBLL1_uc011kmf.2_Frame_Shift_Del_p.A417fs NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA. 418 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 CTGTAACTGCACCCCCTCCTC 0.517 CNOT4 4850 broad.mit.edu 37 7 135106951 135106951 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:135106950_135106950GT>G uc003vsv.2 - 2 658 c.327_327AC>C c.(325-327)aacfs p.N109fs CNOT4_uc011kpy.2_Frame_Shift_Del_p.N109fs|CNOT4_uc011kpz.2_Frame_Shift_Del_p.N109fs|CNOT4_uc003vst.3_Frame_Shift_Del_p.N109fs|CNOT4_uc003vss.3_Frame_Shift_Del_p.N109fs|CNOT4_uc003vsu.2_Frame_Shift_Del_p.N109fs NM_001190848 NP_001177777 O95628 CNOT4_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA. 109 RRM. nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 CAAAGACGAGGTTTTTTTGTA 0.353 NUP205 23165 broad.mit.edu 37 7 135291627 135291628 + Frame_Shift_Ins INS - - A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:135291626_135291627G>GA uc003vsw.3 + 20 3064_3065 c.3033_3034G>GA c.(3031-3036)ttgaaafs p.L1011fs NM_015135 NP_055950 Q92621 NU205_HUMAN Homo sapiens nucleoporin 205kDa (NUP205), mRNA. 1011 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GCTTTGAATTGAAAAAACCTGT 0.401 ZNF282 8427 broad.mit.edu 37 7 148895815 148895815 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr7:148895814_148895814GC>G uc003wfm.3 + 1 660 c.555_555GC>G c.(553-555)ctgfs p.L185fs ZNF282_uc011kun.1_Frame_Shift_Del_p.L185fs|ZNF282_uc003wfn.3_Frame_Shift_Del_p.L125fs|ZNF282_uc003wfo.3_Frame_Shift_Del_p.L125fs NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN Homo sapiens zinc finger protein 282 (ZNF282), mRNA. 185 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) TCCTGCGGCTGCCCCCGGGCA 0.612 ZFHX4 79776 broad.mit.edu 37 8 77617547 77617548 + Frame_Shift_Ins INS - - G rs13252403 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr8:77617546_77617547T>TG uc003yau.2 + 1 1610_1611 c.1223_1224T>TG c.(1222-1224)ctgfs p.L408fs ZFHX4_uc003yat.1_Frame_Shift_Ins_p.L408fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.L408fs NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 408 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAAGTGAATCTGGGGGGGCTGT 0.535 HNSCC(33;0.089) C9orf131 138724 broad.mit.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:35043649_35043649AC>A uc003zvw.3 + 1 1052 c.1023_1023AC>A c.(1021-1023)ccafs p.P341fs C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs NM_203299 NP_976044 Q5VYM1 CI131_HUMAN Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA. 341 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CTCCGATGCCACCCCCCTGCC 0.527 FANCG 2189 broad.mit.edu 37 9 35075485 35075485 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:35075484_35075484CT>C uc003zwb.1 - 9 1903 c.1411_1411AG>G c.(1411-1413)gtgfs p.V471fs VCP_uc003zvy.2_5'Flank|VCP_uc010mkh.1_5'Flank|FANCG_uc010mkj.1_Frame_Shift_Del_p.V213fs|FANCG_uc011lot.1_Frame_Shift_Del_p.V471fs NM_004629 NP_004620 O15287 FANCG_HUMAN Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA. 471 DNA repair|cell cycle checkpoint|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding p.V471E(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTAATTGCCACTTTTTGGGCA 0.557 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks NOL8 55035 broad.mit.edu 37 9 95069255 95069255 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:95069254_95069254CT>C uc022bjx.1 - 10 3076 c.2739_2739AG>G c.(2737-2739)aagfs p.K913fs NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Frame_Shift_Del_p.K845fs NM_017948 NP_060418 Q76FK4 NOL8_HUMAN Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA. 913 DNA replication|positive regulation of cell growth nucleolus RNA binding|nucleotide binding|protein binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 TCAGGGCTTTCTTTTTTTCTT 0.343 ABCA1 19 broad.mit.edu 37 9 107593323 107593324 + Frame_Shift_Ins INS - - C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:107593322_107593323G>GC uc004bcl.3 - 13 2179_2180 c.1775_1776C>GC c.(1774-1776)ggcfs p.G592fs NM_005502 NP_005493 O95477 ABCA1_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA. 592 Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTAGGCGAAGCCCCCCCAGAC 0.540 GPR107 57720 broad.mit.edu 37 9 132862925 132862927 + In_Frame_Del DEL CTC CTC - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:132862924_132862926TCTC>T uc004bze.2 + 10 1183_1185 c.956_958TCTC>T c.(955-960)atctcc>aTcc p.S321del GPR107_uc004bzb.2_In_Frame_Del_p.S132del|GPR107_uc011mbx.1_In_Frame_Del_p.S321del|GPR107_uc004bzd.2_In_Frame_Del_p.S321del NM_001136557 NP_001130029 Q5VW38 GP107_HUMAN Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA. 321 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) TACCACTACATCTCCTCCCAGGG 0.419 NUP214 8021 broad.mit.edu 37 9 134073110 134073110 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:134073109_134073109GT>G uc004cag.3 + 28 4339 c.4228_4228GT>G c.(4228-4230)gttfs p.V1410fs NUP214_uc004cah.3_Frame_Shift_Del_p.V1400fs|NUP214_uc004cai.3_Frame_Shift_Del_p.V840fs|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Frame_Shift_Del_p.V236fs|NUP214_uc011mcf.1_Frame_Shift_Del_p.V187fs|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 1410 11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CTCAACTGCCGTTTTTGGCAG 0.557 T """DEK, SET, ABL1""" """AML, T-ALL""" WDR5 11091 broad.mit.edu 37 9 137019598 137019598 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr9:137019597_137019597AC>A uc004cey.3 + 9 812 c.641_641AC>A c.(640-642)aacfs p.N214fs WDR5_uc004cez.3_Frame_Shift_Del_p.N214fs NM_017588 NP_438172 P61964 WDR5_HUMAN Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA. 214 histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) GATGACGACAACCCCCCCGTG 0.627 FRMD4A 55691 broad.mit.edu 37 10 13708227 13708227 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:13708226_13708226GT>G uc001ims.3 - 17 1826 c.1474_1474AC>C c.(1474-1476)ctgfs p.L492fs FRMD4A_uc009xjf.1_Frame_Shift_Del_p.L492fs|FRMD4A_uc001imt.1_Frame_Shift_Del_p.L525fs NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN Homo sapiens FERM domain containing 4A (FRMD4A), mRNA. 492 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 TGTTTCTTCAGTTTTTTGCTG 0.502 NSUN6 221078 broad.mit.edu 37 10 18834895 18834895 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:18834894_18834894TA>T uc010qcp.1 - 10 1796 c.1378_1378TA>A c.(1378-1380)attfs p.I460fs NSUN6_uc001iqb.3_5'Flank NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA. 460 RNA binding|methyltransferase activity endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 AATTTTGCAATAAAAAAACCT 0.393 TET1 80312 broad.mit.edu 37 10 70332273 70332273 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:70332272_70332272GA>G uc001jok.4 + 1 682 c.177_177GA>G c.(175-177)aagfs p.K59fs NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 59 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 GAGATGTTAAGAAAAAAACAG 0.413 PTEN 5728 broad.mit.edu 37 10 89693003 89693003 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:89693002_89693002CA>C uc001kfb.3 + 4 1518 c.486_486CA>C c.(484-486)gacfs p.D162fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 162 Phosphatase tensin-type. T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.R161I(2)|p.Y27fs*1(2)|p.R161K(2)|p.Y27_N212>Y(2)|p.D162fs*8(2)|p.R161G(1)|p.D162H(1)|p.D162V(1)|p.F56fs*2(1)|p.D162G(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGACCAGAGACAAAAAGGTAA 0.353 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) MYOF 26509 broad.mit.edu 37 10 95113648 95113648 + Splice_Site DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:95113647_95113647TA>T uc001kin.3 - 32 3527 c.3404_splice c.e32-1 p.R1135_splice MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA. 1135 C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGTAGACTCCTAAAAAAACAG 0.343 ZDHHC6 64429 broad.mit.edu 37 10 114200298 114200298 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr10:114200297_114200297TA>T uc001kzv.3 - 4 1100 c.676_676TA>A c.(676-678)atcfs p.I226fs ZDHHC6_uc001kzw.3_Frame_Shift_Del_p.I222fs|ZDHHC6_uc009xya.1_Frame_Shift_Del_p.I226fs NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA. 226 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) CTTACCTGGATAAAAAACAAC 0.398 OR52N2 390077 broad.mit.edu 37 11 5842336 5842336 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:5842335_5842335CT>C uc010qzp.2 + 0 770 c.770_770CT>C c.(769-771)gctfs p.A257fs TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA. 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A256A(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATGTTGCTGCTTTTTTCACT 0.453 GANAB 23193 broad.mit.edu 37 11 62407174 62407174 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:62407173_62407173TA>T uc001nua.3 - 1 102 c.69_69TA>A c.(67-69)ttafs p.L23fs GANAB_uc001nub.3_Frame_Shift_Del_p.L23fs|GANAB_uc001nuc.3_5'UTR|GANAB_uc010rma.2_Intron|GANAB_uc010rmb.2_Intron NM_198335 NP_938149 Q14697 GANAB_HUMAN Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA. 23 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding Golgi apparatus|endoplasmic reticulum lumen|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 GGCAGACCCCTAAAAAAGCCA 0.478 APOA1 335 broad.mit.edu 37 11 116707832 116707832 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:116707831_116707831TG>T uc001ppv.1 - 2 124 c.86_86CA>A c.(85-87)cagfs p.Q29fs NM_000039 NP_000030 P02647 APOA1_HUMAN Homo sapiens apolipoprotein A-I (APOA1), mRNA. 29 Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|cholesterol import|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2) 9 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CCAGGGGCTCTGGGGGGGTTC 0.607 IL10RA 3587 broad.mit.edu 37 11 117864040 117864040 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:117864039_117864039GC>G uc001prv.3 + 3 528 c.451_451GC>G c.(451-453)gccfs p.A151fs IL10RA_uc010rxl.2_Frame_Shift_Del_p.A131fs|IL10RA_uc010rxm.2_Frame_Shift_Del_p.A131fs|IL10RA_uc010rxn.2_Frame_Shift_Del_p.A2fs|IL10RA_uc001prw.3_Frame_Shift_Del_p.A2fs NM_001558 NP_001549 Q13651 I10R1_HUMAN Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA. 151 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) GCCCAAGATGGCCCCCGCAAA 0.517 C11orf63 79864 broad.mit.edu 37 11 122817463 122817463 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr11:122817462_122817462GA>G uc001pym.3 + 5 2188 c.1891_1891GA>G c.(1891-1893)gaafs p.E631fs NM_024806 NP_079082 Q6NUN7 CK063_HUMAN Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA. 631 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GTTTCAACTGGAAAAGGGAAA 0.388 DYRK4 8798 broad.mit.edu 37 12 4719362 4719362 + Frame_Shift_Del DEL A A - rs80196697 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:4719361_4719361GA>G uc009zeh.1 + 12 1443 c.1401_1401GA>G c.(1399-1401)gggfs p.G467fs DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA. 352 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G754G(1) central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) ACAACAGGGGGAAAAAAAGAT 0.393 CMAS 55907 broad.mit.edu 37 12 22214223 22214224 + Frame_Shift_Ins INS - - A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:22214222_22214223T>TA uc001rfm.3 + 5 875_876 c.796_797T>TA c.(796-798)tatfs p.Y266fs CMAS_uc001rfn.3_Intron NM_018686 NP_061156 Q8NFW8 NEUA_HUMAN Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA. 266 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 TAGATATGGCTATTTTGGCAAA 0.371 MCRS1 10445 broad.mit.edu 37 12 49959312 49959314 + Splice_Site DEL CTT CTT - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:49959311_49959313CCTT>C uc001rui.1 - 3 327 c.327_splice c.e3+1 p.K109_splice MCRS1_uc001ruj.2_Splice_Site_p.K83_splice|MCRS1_uc001ruk.1_Splice_Site_p.K96_splice|MCRS1_uc009zlj.1_Splice_Site NM_001012300 NP_001012300 Q96EZ8 MCRS1_HUMAN Homo sapiens microspherule protein 1 (MCRS1), transcript variant 2, mRNA. 96 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex|cytoplasm|nucleolus protein binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11) 23 CAATTCCTCACCTTCTTCTTCTC 0.581 INHBE 83729 broad.mit.edu 37 12 57850545 57850546 + Frame_Shift_Del DEL CT CT - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:57850544_57850545CCT>C uc001snw.3 + 1 1190_1191 c.966_967CCT>C c.(964-969)cccctcfs p.P322fs NM_031479 NP_113667 P58166 INHBE_HUMAN Homo sapiens inhibin, beta E (INHBE), mRNA. 322 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 CCCGAAGGCCCCTCTCTCTCCT 0.564 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GLI1 2735 broad.mit.edu 37 12 57860075 57860075 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:57860074_57860074TG>T uc001snx.3 + 7 908 c.814_814TG>T c.(814-816)tggfs p.W272fs GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs NM_005269 NP_001153517 P08151 GLI1_HUMAN Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. 272 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CGTGTGCCACTGGGGGGGCTG 0.597 MON2 23041 broad.mit.edu 37 12 62960172 62960172 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:62960171_62960171CA>C uc001sre.3 + 28 4655 c.4264_4264CA>C c.(4264-4266)caafs p.Q1422fs MON2_uc010ssn.2_Frame_Shift_Del_p.Q1416fs|MON2_uc009zqj.3_Frame_Shift_Del_p.Q1422fs|MON2_uc010ssl.2_Frame_Shift_Del_p.Q1350fs|MON2_uc010ssm.2_Frame_Shift_Del_p.Q1393fs|MON2_uc001srf.3_Frame_Shift_Del_p.Q1185fs|MON2_uc001srg.3_Frame_Shift_Del_p.Q291fs NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA. 1423 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) GGATTTATACCAAAAAACAGC 0.358 C12orf51 283450 broad.mit.edu 37 12 112600860 112600861 + Frame_Shift_Ins INS - - G TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:112600859_112600860T>TG uc021reb.1 - 74 13100_13101 c.12704_12705A>CA c.(12703-12705)ccafs p.P4235fs NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 CTGTGCCATCTGGGGGGGCGAT 0.629 FBXO21 23014 broad.mit.edu 37 12 117624320 117624320 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr12:117624319_117624319CA>C uc001twk.3 - 2 472 c.433_433TG>G c.(433-435)gagfs p.E145fs FBXO21_uc001twj.3_Frame_Shift_Del_p.E145fs|FBXO21_uc009zwq.3_Frame_Shift_Del_p.E145fs NM_033624 NP_296373 O94952 FBX21_HUMAN Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA. 145 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity p.F144fs*9(1) breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) AGTTCATCCTCAAAAAAAATC 0.368 SACS 26278 broad.mit.edu 37 13 23906662 23906662 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:23906661_23906661CT>C uc001uon.2 - 9 11943 c.11354_11354AG>G c.(11353-11355)aggfs p.R3785fs SACS_uc001uoo.2_Frame_Shift_Del_p.R3638fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 3785 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ACGAAATTCCCTTTTTTCTGC 0.388 SACS 26278 broad.mit.edu 37 13 23915477 23915477 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:23915476_23915476GT>G uc001uon.2 - 9 3128 c.2539_2539AC>C c.(2539-2541)cttfs p.L847fs SACS_uc001uoo.2_Frame_Shift_Del_p.L700fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 847 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACCCTCCAAGTTTTTGTACA 0.343 PABPC3 5042 broad.mit.edu 37 13 25670802 25670802 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:25670801_25670801TA>T uc001upy.3 + 0 526 c.465_465TA>T c.(463-465)attfs p.I155fs NM_030979 NP_112241 Q9H361 PABP3_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA. 155 RRM 2. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAAGAGCTATTAAAAAAATGA 0.398 NUFIP1 26747 broad.mit.edu 37 13 45554925 45554925 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:45554924_45554924CA>C uc001uzp.2 - 2 569 c.527_527TG>G c.(526-528)tgtfs p.C176fs NM_012345 NP_036477 Q9UHK0 NUFP1_HUMAN Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA. 176 RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) ACAGGTATCACAAAAAAAGTG 0.308 RNF219 79596 broad.mit.edu 37 13 79190057 79190057 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:79190056_79190056GA>G uc001vkw.1 - 5 1899 c.1840_1840TC>C c.(1840-1842)ctcfs p.L614fs BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Frame_Shift_Del_p.L424fs NM_024546 NP_078822 Q5W0B1 RN219_HUMAN Homo sapiens ring finger protein 219 (RNF219), mRNA. 614 Ser-rich. zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GGAGAGAGGAGAAAAAAAGAA 0.368 SLITRK6 84189 broad.mit.edu 37 13 86368997 86368997 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:86368996_86368996CG>C uc001vll.1 - 1 2107 c.1648_1648CG>G c.(1648-1650)gggfs p.G550fs SLITRK6_uc021rla.1_Frame_Shift_Del_p.G550fs NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 550 LRRCT 2. integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TCGAGATGCCCGGGGGAAGTG 0.453 RNF113B 140432 broad.mit.edu 37 13 98828697 98828697 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:98828696_98828696GT>G uc001vnk.3 - 0 826 c.795_795AC>C c.(793-795)aacfs p.N265fs FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN Homo sapiens ring finger protein 113B (RNF113B), mRNA. 265 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) TGACGACTGGGTTTTGGAAGG 0.567 NALCN 259232 broad.mit.edu 37 13 101742086 101742086 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:101742085_101742085CA>C uc001vox.1 - 29 3607 c.3418_3418TG>G c.(3418-3420)gtafs p.V1140fs NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 1140 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCCAGGAATACAAAAACATGA 0.353 FAM70B 348013 broad.mit.edu 37 13 114514859 114514859 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:114514858_114514858AC>A uc001vuh.3 + 8 990 c.963_963AC>A c.(961-963)ccafs p.P321fs NM_182614 NP_872420 Q8WV15 FA70B_HUMAN Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA. 321 Pro-rich. integral to membrane upper_aerodigestive_tract(1) 1 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) GGGAGAAGCCACCCCCCTACG 0.557 RASA3 22821 broad.mit.edu 37 13 114751195 114751195 + Frame_Shift_Del DEL G G - rs145099620 byFrequency TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr13:114751194_114751194TG>T uc001vui.3 - 22 2452 c.2321_2321CA>A c.(2320-2322)cagfs p.Q774fs RASA3_uc010tkk.2_Frame_Shift_Del_p.Q742fs|RASA3_uc001vuj.3_Frame_Shift_Del_p.Q391fs NM_007368 NP_031394 Q14644 RASA3_HUMAN Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA. 774 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|calcium-release channel activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) GTAGGTCTCCTGGGGGTCGTC 0.567 SOS2 6655 broad.mit.edu 37 14 50585272 50585274 + In_Frame_Del DEL AGG AGG - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:50585271_50585273TAGG>T uc001wxs.4 - 22 3886_3888 c.3788_3790CCTA>A c.(3787-3792)cctagc>cAgc p.1263_1264PS>Q SOS2_uc010ans.3_In_Frame_Del_p.98_99PS>Q|SOS2_uc010tql.2_In_Frame_Del_p.1230_1231PS>Q|METTL21D_uc001wxn.1_5'Flank|METTL21D_uc001wxp.1_5'Flank|METTL21D_uc001wxq.1_5'Flank|METTL21D_uc001wxo.1_5'Flank NM_006939 NP_008870 Q07890 SOS2_HUMAN Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA. 1263 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding p.S1264N(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) GAGGGTGTGCTAGGAGGAGTGCT 0.512 ENTPD5 957 broad.mit.edu 37 14 74449797 74449797 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:74449796_74449796CT>C uc010tuo.2 - 5 677 c.366_366AG>G c.(364-366)aagfs p.K122fs ENTPD5_uc001xpi.3_Frame_Shift_Del_p.K122fs NM_001249 NP_001240 O75356 ENTP5_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA. 122 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(234;0.00394) CCACTGGGGTCTTTTTCCAGT 0.483 YLPM1 56252 broad.mit.edu 37 14 75230817 75230819 + In_Frame_Del DEL TCC TCC - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:75230816_75230818ATCC>A uc001xqj.4 + 0 748_750 c.624_626ATCC>A c.(622-627)tcatcc>tcAc p.208_209SS>S NM_019589 NP_062535 P49750 YLPM1_HUMAN Homo sapiens YLP motif containing 1 (YLPM1), mRNA. 48 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CTTCTTACTCATCCTCCTCCTCT 0.601 SERPINA1 5265 broad.mit.edu 37 14 94844885 94844885 + Frame_Shift_Del DEL G G - rs121912712 TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:94844884_94844884CG>C uc001ycy.4 - 6 1713 c.1159_1159CG>G c.(1159-1161)gagfs p.E387fs SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auy.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ycz.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auz.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc010ava.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ydb.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010avb.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ydc.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auw.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc010aux.3_Frame_Shift_Del_p.E387fs NM_001002236 NP_001121179 P01009 A1AT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA. 387 RCL. E -> K (in Christchurch). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) AACTTGACCTCGGGGGGGATA 0.488 BDKRB1 623 broad.mit.edu 37 14 96731011 96731012 + Frame_Shift_Ins INS - - C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:96731010_96731011A>AC uc021sbj.1 + 0 991_992 c.991_992A>AC c.(991-993)accfs p.T331fs BDKRB1_uc001yfh.3_Frame_Shift_Ins_p.T331fs NM_000710 NP_000701 P46663 BKRB1_HUMAN Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA. 331 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) TAAACAATGCACCCCTAAAAGT 0.426 BRF1 2972 broad.mit.edu 37 14 105692604 105692604 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr14:105692603_105692603GT>G uc001yqp.2 - 8 1303 c.940_940AC>C c.(940-942)ctgfs p.L314fs BRF1_uc010tyo.1_Frame_Shift_Del_p.L199fs|BRF1_uc010typ.1_Frame_Shift_Del_p.L199fs|BRF1_uc001yql.2_Frame_Shift_Del_p.L110fs|BRF1_uc001yqo.2_Frame_Shift_Del_p.L76fs|BRF1_uc010axg.1_Frame_Shift_Del_p.L287fs|BRF1_uc001yqn.2_Non-coding_Transcript|BRF1_uc010axh.1_Non-coding_Transcript NM_001519 NP_663718 Q92994 TF3B_HUMAN Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA. 314 positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) ACCTCCTCCAGTTTTTTTGAC 0.478 ZFP106 64397 broad.mit.edu 37 15 42742969 42742970 + Frame_Shift_Ins INS - - T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:42742968_42742969G>GT uc001zpw.3 - 1 1759_1760 c.1432_1433C>AC c.(1432-1434)acafs p.T478fs ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Frame_Shift_Ins_p.T261fs|ZFP106_uc001zpy.1_Frame_Shift_Ins_p.T501fs NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA. 478 nucleolus zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) AAAAAAATTTGTTTTGGTGTTT 0.396 SLC12A1 6557 broad.mit.edu 37 15 48577440 48577440 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:48577439_48577439TA>T uc001zwn.4 + 20 2838 c.2622_2622TA>T c.(2620-2622)cctfs p.P874fs SLC12A1_uc010uew.1_Frame_Shift_Del_p.P680fs|SLC12A1_uc010bem.3_Frame_Shift_Del_p.P874fs|SLC12A1_uc001zwq.4_Frame_Shift_Del_p.P645fs|SLC12A1_uc001zwr.4_Frame_Shift_Del_p.P601fs NM_000338 NP_000329 Q13621 S12A1_HUMAN Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA. 874 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) AGACAACGCCTAAAAAAGGTA 0.373 DMXL2 23312 broad.mit.edu 37 15 51780825 51780826 + Frame_Shift_Ins INS - - A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:51780824_51780825G>GA uc010ufy.2 - 20 5196_5197 c.4971_4972C>TC c.(4969-4974)tttcaafs p.F1657fs DMXL2_uc002abf.3_Frame_Shift_Ins_p.F1657fs|DMXL2_uc010bfa.3_Frame_Shift_Ins_p.F1021fs NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 1657 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TTGTTCCTTTGAAAAGAAGCTT 0.332 KIAA1199 57214 broad.mit.edu 37 15 81173394 81173394 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr15:81173393_81173393AT>A uc002bfw.1 + 4 793 c.533_533AT>A c.(532-534)tatfs p.Y178fs KIAA1199_uc010unn.1_Frame_Shift_Del_p.Y178fs NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 178 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GAAGGAGGCTATTTTTTTGAA 0.498 KIAA0430 9665 broad.mit.edu 37 16 15690614 15690614 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:15690613_15690613CT>C uc002ddr.3 - 26 5373 c.5166_5166AG>G c.(5164-5166)aagfs p.K1722fs KIAA0430_uc002ddq.3_Frame_Shift_Del_p.K1556fs|KIAA0430_uc010uzv.2_Frame_Shift_Del_p.K1719fs|KIAA0430_uc010uzw.2_Frame_Shift_Del_p.K1722fs NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA. 1721 peroxisome RNA binding|nucleotide binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TTTTGGGTTGCTTTTTGGCCG 0.512 ERN2 10595 broad.mit.edu 37 16 23702513 23702524 + Splice_Site DEL CAGATCTGTGGA CAGATCTGTGGA - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:23702512_23702523TCAGATCTGTGGA>T uc002dma.4 - 21 2814 c.2645_splice c.e21-1 p.D882_splice ERN2_uc010bxp.3_Splice_Site_p.D830_splice NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 834 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CGGAACTTTCTCAGATCTGTGGACAGGGAATT 0.608 CA7 766 broad.mit.edu 37 16 66885451 66885452 + Frame_Shift_Ins INS - - T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:66885450_66885451G>GT uc002eqi.3 + 3 551_552 c.442_443G>GT c.(442-444)gttfs p.V148fs AF086125_uc002eqh.3_Intron|CA7_uc002eqj.3_Frame_Shift_Ins_p.V92fs NM_005182 NP_001014435 P43166 CAH7_HUMAN Homo sapiens carbonic anhydrase VII (CA7), transcript variant 1, mRNA. 148 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) TGTGGTTGGTGTTTTTTTGGAG 0.579 CTCF 10664 broad.mit.edu 37 16 67645339 67645339 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:67645338_67645338CA>C uc002etl.3 + 2 1047 c.603_603CA>C c.(601-603)gccfs p.A201fs CTCF_uc010cek.3_Intron NM_006565 NP_001177951 P49711 CTCF_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA. 201 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) AGCCACCAGCCAAAAAAACAA 0.473 ZNF23 7571 broad.mit.edu 37 16 71483562 71483562 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr16:71483561_71483561TA>T uc002faf.3 - 5 1181 c.367_367TA>A c.(367-369)agtfs p.S123fs ZNF23_uc002fah.3_Frame_Shift_Del_p.S123fs|ZNF23_uc002fad.3_Frame_Shift_Del_p.S65fs|ZNF23_uc010vmf.2_Frame_Shift_Del_p.S65fs|ZNF23_uc002fag.3_Frame_Shift_Del_p.S65fs|ZNF23_uc002fai.3_Frame_Shift_Del_p.S162fs NM_145911 NP_666016 P17027 ZNF23_HUMAN Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA. 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) GAACTTTGACTAAAAAAACAC 0.443 TSR1 55720 broad.mit.edu 37 17 2239337 2239339 + In_Frame_Del DEL CTT CTT - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:2239336_2239338CCTT>C uc002fuj.3 - 1 1151_1153 c.194_196AAGG>G c.(193-198)aaggag>aGag p.65_66KE>R SGSM2_uc002fum.4_5'Flank|SGSM2_uc002fun.4_5'Flank|SGSM2_uc010vqw.2_5'Flank NM_018128 NP_060598 Q2NL82 TSR1_HUMAN Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA. 65 ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 CTCACCGCCTCCTTCTTCTGCTT 0.567 RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:56435160_56435160AC>A uc002iwf.3 - 7 3933 c.1977_1977GT>T c.(1975-1977)ggtfs p.G659fs RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCC 0.597 TMEM104 54868 broad.mit.edu 37 17 72832361 72832362 + Frame_Shift_Ins INS - - CG TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:72832360_72832361T>TCG uc002jls.4 + 9 1187_1188 c.1025_1026T>TCG c.(1024-1026)ttcfs p.F342fs TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Frame_Shift_Ins_p.F342fs NM_017728 NP_060198 Q8NE00 TM104_HUMAN Homo sapiens transmembrane protein 104 (TMEM104), mRNA. 342 integral to membrane p.F342F(2) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) ACCCTCAACTTCGCGCGCTGTG 0.614 FOXK2 3607 broad.mit.edu 37 17 80545092 80545092 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr17:80545091_80545091CA>C uc002kfn.3 + 7 1900 c.1729_1729CA>C c.(1729-1731)caafs p.Q577fs FOXK2_uc002kfm.1_Frame_Shift_Del_p.Q577fs|FOXK2_uc010diu.3_Intron NM_004514 NP_004505 Q01167 FOXK2_HUMAN Homo sapiens forkhead box K2 (FOXK2), mRNA. 577 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) AACTGTAACACAAAACGGCAC 0.567 CTAGE1 64693 broad.mit.edu 37 18 19995706 19995706 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:19995705_19995705TG>T uc002ktv.1 - 0 2174 c.2070_2070CA>A c.(2068-2070)ccafs p.P690fs NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. 690 Pro-rich. integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) CTGGAGGAGGTGGGGGGAAAG 0.498 FHOD3 80206 broad.mit.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:34205515_34205515AC>A uc021uiv.1 + 9 1096 c.999_999AC>A c.(997-999)ccafs p.P333fs FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA. 333 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CCACGGAGCCACCCCCCAGTG 0.677 WDR7 23335 broad.mit.edu 37 18 54424020 54424020 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr18:54424019_54424019CT>C uc002lgk.1 + 14 2406 c.2195_2195CT>C c.(2194-2196)tctfs p.S732fs WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.S732fs NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA. 732 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) AAAGGGGGCTCTTTTTTAACT 0.428 PDE4C 5143 broad.mit.edu 37 19 18329753 18329753 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:18329752_18329752GA>G uc010xqc.2 - 8 1543 c.1063_1063TC>C c.(1063-1065)cagfs p.Q355fs PDE4C_uc002nik.4_Frame_Shift_Del_p.Q355fs|PDE4C_uc002nil.4_Frame_Shift_Del_p.Q355fs|PDE4C_uc002nig.4_Frame_Shift_Del_p.Q125fs|PDE4C_uc002nih.4_Frame_Shift_Del_p.Q125fs|PDE4C_uc010ebk.3_Frame_Shift_Del_p.Q249fs|PDE4C_uc002nii.4_Frame_Shift_Del_p.Q323fs|PDE4C_uc002nif.4_Frame_Shift_Del_p.Q124fs|PDE4C_uc010ebl.3_Frame_Shift_Del_p.Q69fs NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA. 355 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GTAGGTACCTGAAAAATGCTG 0.507 ZNF626 199777 broad.mit.edu 37 19 20808338 20808338 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:20808337_20808337CT>C uc002npb.1 - 3 496 c.346_346AG>G c.(346-348)ggafs p.G116fs ZNF626_uc002npc.1_Frame_Shift_Del_p.G40fs NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA. 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 CTTATACATCCTTTTTTTAAC 0.348 ZNF43 7594 broad.mit.edu 37 19 21992491 21992491 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:21992490_21992490CT>C uc002nqj.3 - 3 479 c.349_349AG>G c.(349-351)gacfs p.D117fs ZNF43_uc002nql.3_Frame_Shift_Del_p.D111fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.D111fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.D111fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.D47fs NM_003423 NP_003414 P17038 ZNF43_HUMAN Homo sapiens zinc finger protein 43 (ZNF43), mRNA. 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CTTTTATGGTCTTTTTTTAAA 0.348 RYR1 6261 broad.mit.edu 37 19 38939333 38939334 + Frame_Shift_Ins INS - - C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:38939332_38939333G>GC uc002oit.3 + 10 1131_1132 c.1001_1002G>GC c.(1000-1002)ggcfs p.G334fs RYR1_uc002oiu.3_Frame_Shift_Ins_p.G334fs NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 334 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAGGGCATGGGCCCCCCTGAGA 0.639 MAP3K10 4294 broad.mit.edu 37 19 40715080 40715080 + Frame_Shift_Del DEL C C - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:40715079_40715079GC>G uc002ona.3 + 5 1793 c.1505_1505GC>G c.(1504-1506)agcfs p.S502fs NM_002446 NP_002437 Q02779 M3K10_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA. 502 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GATGGGGCCAGCCCCCCTGCA 0.547 C19orf47 126526 broad.mit.edu 37 19 40834399 40834399 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:40834398_40834398TG>T uc002oni.4 - 5 473 c.472_472CA>A c.(472-474)aggfs p.R158fs C19orf47_uc002ong.3_Frame_Shift_Del_p.R17fs|C19orf47_uc002onh.3_Frame_Shift_Del_p.R91fs NM_178830 NP_849152 Q8N9M1 CS047_HUMAN Homo sapiens chromosome 19 open reading frame 47 (C19orf47), mRNA. 158 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) TCCGGGCGCCTGGGGGGTGTG 0.617 CIC 23152 broad.mit.edu 37 19 42796883 42796884 + Frame_Shift_Ins INS - - C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:42796882_42796883G>GC uc002otf.1 + 13 3380_3381 c.3340_3341G>GC c.(3340-3342)gccfs p.A1114fs NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 1114 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.S1117fs*34(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GCCATCCCAGGCCCCCCCAAGC 0.683 """Mis, F, S""" oligodendroglioma IRGQ 126298 broad.mit.edu 37 19 44096194 44096194 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:44096193_44096193AG>A uc002oww.2 - 1 1975 c.1857_1857CT>T c.(1855-1857)cctfs p.P619fs IRGQ_uc010eiv.2_Frame_Shift_Del_p.P619fs NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA. 619 protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) GGGCAGGCTCAGGGGGTGCCA 0.652 CD3EAP 10849 broad.mit.edu 37 19 45911872 45911872 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:45911871_45911871GA>G uc002pbr.1 + 2 657 c.651_651GA>G c.(649-651)aagfs p.K217fs PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_Frame_Shift_Del_p.K215fs|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR NM_012099 NP_036231 O15446 RPA34_HUMAN Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA. 215 Poly-Lys. rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway RNA polymerase I transcription factor complex|chromosome DNA-directed RNA polymerase activity p.K215N(1) breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) AGAAGAAGAAGAAAAAAAATC 0.587 LENG1 79165 broad.mit.edu 37 19 54660581 54660582 + Frame_Shift_Ins INS - - C TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:54660580_54660581T>TC uc002qdm.3 - 2 508_509 c.495_496A>GA c.(493-498)gggaagfs p.G165fs NM_024316 NP_077292 Q96BZ8 LENG1_HUMAN Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA. 165 breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TGTCTCTTCTTCCCCAGATGCT 0.634 PTPRH 5794 broad.mit.edu 37 19 55708650 55708650 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:55708649_55708649CG>C uc002qjq.3 - 8 1899 c.1826_1826CG>G c.(1825-1827)cggfs p.R609fs PTPRH_uc010esv.3_Frame_Shift_Del_p.R431fs|PTPRH_uc002qjs.2_Frame_Shift_Del_p.R616fs NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA. 609 Fibronectin type-III 7. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TTGCCCCCTCCGGGGATGTCC 0.577 ZNF551 90233 broad.mit.edu 37 19 58264857 58264858 + Frame_Shift_Ins INS - - A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr19:58264856_58264857G>GA uc002qpx.3 + 2 581_582 c.358_359G>GA c.(358-360)gaafs p.E120fs ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Frame_Shift_Ins_p.E120fs NM_173632 NP_775903 Q7Z340 ZN551_HUMAN Homo sapiens zinc finger protein 776 (ZNF776), mRNA. 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 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) TGGGGCATATGAAAAAAAATTG 0.446 NDRG3 57446 broad.mit.edu 37 20 35284817 35284817 + Splice_Site DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:35284816_35284816TG>T uc002xfw.3 - 15 1037 c.895_splice c.e15-1 p.P299_splice NDRG3_uc002xfx.3_Splice_Site_p.P287_splice|NDRG3_uc010zvq.2_Splice_Site_p.P204_splice|NDRG3_uc010zvr.2_Splice_Site_p.P187_splice NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA. 299 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) CTTCCCAGGCTGGGGGGATAA 0.423 RALGAPB 57148 broad.mit.edu 37 20 37182676 37182676 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr20:37182675_37182675CT>C uc002xiw.3 + 21 3585 c.3328_3328CT>C c.(3328-3330)cttfs p.L1110fs RALGAPB_uc002xix.3_Frame_Shift_Del_p.L1106fs|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.L888fs NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA. 1110 activation of Ral GTPase activity intracellular Ral GTPase activator activity|protein heterodimerization activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AACAGCCCGCCTTTTTCTCTC 0.428 NRIP1 8204 broad.mit.edu 37 21 16339438 16339438 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr21:16339437_16339437AT>A uc021whl.1 - 0 1077 c.1077_1077AT>T c.(1075-1077)aatfs p.N359fs NRIP1_uc002yjx.2_Frame_Shift_Del_p.N359fs NM_003489 NP_003480 P48552 NRIP1_HUMAN Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA. 359 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TATAACCTGCATTTTTAGGGG 0.368 SEZ6L 23544 broad.mit.edu 37 22 26776238 26776239 + Frame_Shift_Del DEL AG AG - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:26776237_26776238CAG>C uc003acb.3 + 16 3247_3248 c.3051_3052CAG>C c.(3049-3054)accagafs p.T1017fs SEZ6L_uc003acd.3_Frame_Shift_Del_p.T942fs|SEZ6L_uc011akd.2_Frame_Shift_Del_p.T1004fs|SEZ6L_uc003ace.3_Frame_Shift_Del_p.T941fs|SEZ6L_uc011akc.2_Frame_Shift_Del_p.T1006fs|SEZ6L_uc003acc.3_Frame_Shift_Del_p.T1016fs|SEZ6L_uc011ake.2_Non-coding_Transcript NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 1017 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TGCAGGAAACCAGAGAGTATGA 0.465 TMPRSS6 164656 broad.mit.edu 37 22 37499436 37499436 + Frame_Shift_Del DEL G G - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chr22:37499435_37499435TG>T uc003aqt.1 - 1 85 c.23_23CA>A c.(22-24)cagfs p.Q8fs TMPRSS6_uc003aqs.1_Frame_Shift_Del_p.Q17fs|TMPRSS6_uc003aqu.3_Frame_Shift_Del_p.Q8fs NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA. 17 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 GCCAGCCACCTGGGGGGCCTC 0.657 TLR8 51311 broad.mit.edu 37 X 12939191 12939191 + Frame_Shift_Del DEL T T - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:12939190_12939190GT>G uc004cvd.3 + 2 2255 c.2085_2085GT>G c.(2083-2085)aagfs p.K695fs TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Frame_Shift_Del_p.K677fs NM_138636 NP_619542 Q9NR97 TLR8_HUMAN Homo sapiens toll-like receptor 8 (TLR8), mRNA. 677 I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 ATATGTTAAAGTTTTTTAACT 0.368 HEPH 9843 broad.mit.edu 37 X 65418738 65418741 + Frame_Shift_Del DEL TTCT TTCT - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:65418737_65418740ATTCT>A uc011moz.2 + 10 2030_2033 c.1893_1896ATTCT>A c.(1891-1896)gaattcfs p.E631fs HEPH_uc004dwn.3_Frame_Shift_Del_p.E580fs|HEPH_uc004dwo.3_Frame_Shift_Del_p.E310fs|HEPH_uc010nkr.3_Intron|HEPH_uc011mpa.2_Frame_Shift_Del_p.E580fs NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 577 Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.P632S(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TGGATAAAGAATTCTTTCTTCTCT 0.426 SLC6A14 11254 broad.mit.edu 37 X 115582770 115582771 + Frame_Shift_Ins INS - - T TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:115582769_115582770A>AT uc004eqi.3 + 7 1224_1225 c.1093_1094A>AT c.(1093-1095)attfs p.I365fs NM_007231 NP_009162 Q9UN76 S6A14_HUMAN Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA. 365 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TGGATTTGCTATTTTTTCTATA 0.332 USP26 83844 broad.mit.edu 37 X 132160788 132160789 + Frame_Shift_Ins INS - - A TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:132160787_132160788C>CA uc011mvf.2 - 0 1513_1514 c.1461_1462G>TG c.(1459-1464)tttggafs p.F487fs USP26_uc010nrm.1_Frame_Shift_Ins_p.F487fs NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 487 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.G488fs*6(4)|p.F487fs*7(2) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TCTTCTGCTCCAAAAAAAAGAT 0.381 SAGE1 55511 broad.mit.edu 37 X 134988609 134988609 + Frame_Shift_Del DEL A A - TCGA-BR-4256-01A-01D-1126-08 TCGA-BR-4256-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 314e2003-3112-476a-b7c9-ecee8014938a 3537ea7a-6b33-4bdc-9e90-bfd976cdd753 g.chrX:134988608_134988608GA>G uc004ezh.3 + 6 801 c.634_634GA>G c.(634-636)gaafs p.E212fs SAGE1_uc010nry.1_Frame_Shift_Del_p.E181fs|SAGE1_uc011mvv.2_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 212 p.E212G(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) ACAGAAGATGGAAAATGTCCA 0.448