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 EIF2C1 26523 broad.mit.edu 37 1 36359356 36359356 + Silent SNP C C T TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr1:36359356C>T uc001bzl.2 + 5 807 c.594C>T c.(592-594)TTC>TTT p.F198F EIF2C1_uc001bzk.2_Silent_p.F123F|EIF2C1_uc009vuy.2_5'Flank NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 198 negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGGTCTGGTTCGGCTTTCACC 0.632 ADCY10 55811 broad.mit.edu 37 1 167839531 167839531 + Missense_Mutation SNP A A G TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr1:167839531A>G uc001ger.2 - 14 1878 c.1580T>C c.(1579-1581)ATG>ACG p.M527T ADCY10_uc009wvk.2_Missense_Mutation_p.M435T|ADCY10_uc010plj.1_Missense_Mutation_p.M374T|ADCY10_uc009wvl.2_Missense_Mutation_p.M526T NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 527 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 CTCAATTTTCATAAGTATCTG 0.368 CCDC3 83643 broad.mit.edu 37 10 12940586 12940586 + Missense_Mutation SNP G G A TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr10:12940586G>A uc001ilq.1 - 3 777 c.643C>T c.(643-645)CGG>TGG p.R215W CCDC3_uc009xjb.1_RNA|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_RNA NM_031455 NP_113643 Q9BQI4 CCDC3_HUMAN coiled-coil domain containing 3 precursor 215 Potential. endoplasmic reticulum|extracellular region ovary(1) 1 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) CGGAGCTGCCGGTTGCGCTTC 0.602 LYZL1 84569 broad.mit.edu 37 10 29581519 29581519 + Missense_Mutation SNP G G A TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr10:29581519G>A uc001iul.2 + 3 406 c.349G>A c.(349-351)GAC>AAC p.D117N NM_032517 NP_115906 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 71 By similarity. cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Breast(68;0.203) CGGCAGCATCGACTATGGCAT 0.577 PCDH15 65217 broad.mit.edu 37 10 55780164 55780164 + Missense_Mutation SNP C C A TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr10:55780164C>A uc001jju.1 - 20 2934 c.2539G>T c.(2539-2541)GAC>TAC p.D847Y PCDH15_uc010qhq.1_Missense_Mutation_p.D852Y|PCDH15_uc010qhr.1_Missense_Mutation_p.D847Y|PCDH15_uc010qhs.1_Missense_Mutation_p.D859Y|PCDH15_uc010qht.1_Missense_Mutation_p.D854Y|PCDH15_uc010qhu.1_Missense_Mutation_p.D847Y|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D847Y|PCDH15_uc010qhw.1_Missense_Mutation_p.D810Y|PCDH15_uc010qhx.1_Missense_Mutation_p.D776Y|PCDH15_uc010qhy.1_Missense_Mutation_p.D852Y|PCDH15_uc010qhz.1_Missense_Mutation_p.D847Y|PCDH15_uc010qia.1_Missense_Mutation_p.D825Y|PCDH15_uc010qib.1_Missense_Mutation_p.D825Y|PCDH15_uc001jjw.2_Missense_Mutation_p.D847Y NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 847 Extracellular (Potential).|Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GCTCCAAGGTCGACATCTTTG 0.403 HNSCC(58;0.16) ZNF365 22891 broad.mit.edu 37 10 64159467 64159467 + Silent SNP G G A TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr10:64159467G>A uc001jly.3 + 5 1250 c.1188G>A c.(1186-1188)GAG>GAA p.E396E ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Silent_p.E381E|ZNF365_uc001jma.3_RNA NM_014951 NP_055766 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform A Error:Variant_position_missing_in_Q70YC4_after_alignment ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) AGAAAGGGGAGCTCCTGGGGT 0.527 JMJD1C 221037 broad.mit.edu 37 10 64968251 64968251 + Missense_Mutation SNP T T C rs149833441 by1000genomes TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr10:64968251T>C uc001jmn.2 - 10 3478 c.3178A>G c.(3178-3180)AAA>GAA p.K1060E JMJD1C_uc001jml.2_Missense_Mutation_p.K841E|JMJD1C_uc001jmm.2_Missense_Mutation_p.K772E|JMJD1C_uc010qiq.1_Missense_Mutation_p.K878E|JMJD1C_uc009xpi.2_Missense_Mutation_p.K878E|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.K97E NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1060 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) ATATGGCTTTTAGGACTGGAA 0.388 DNMBP 23268 broad.mit.edu 37 10 101716054 101716054 + Missense_Mutation SNP C C T TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr10:101716054C>T uc001kqj.2 - 4 1269 c.1177G>A c.(1177-1179)GAA>AAA p.E393K NCRNA00093_uc001kqk.1_Intron NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 393 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) AGAGGCATTTCCCACTCCACG 0.537 ZFYVE26 23503 broad.mit.edu 37 14 68222803 68222803 + Silent SNP C C T TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr14:68222803C>T uc001xka.2 - 36 6787 c.6648G>A c.(6646-6648)AAG>AAA p.K2216K ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.K62K NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2216 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AAGTGTGTAGCTTCCCACTTT 0.463 CDH1 999 broad.mit.edu 37 16 68844154 68844154 + Missense_Mutation SNP A A T TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr16:68844154A>T uc002ewg.1 + 6 866 c.742A>T c.(742-744)ATT>TTT p.I248F CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.I248F NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 248 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TCCAATGGAGATTTTGATCAC 0.483 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer LRRC8E 80131 broad.mit.edu 37 19 7965138 7965138 + Silent SNP C C T TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr19:7965138C>T uc002mir.2 + 3 1832 c.1731C>T c.(1729-1731)AGC>AGT p.S577S NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 577 LRR 3. integral to membrane lung(1)|pancreas(1) 2 CCCTGAACAGCCTCAAGAAGC 0.662 ICAM5 7087 broad.mit.edu 37 19 10403881 10403881 + Missense_Mutation SNP A A T TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr19:10403881A>T uc002mnu.3 + 6 1489 c.1424A>T c.(1423-1425)GAT>GTT p.D475V ICAM5_uc002mnv.3_Missense_Mutation_p.D350V NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 475 Extracellular (Potential).|Ig-like C2-type 5. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GCGGCCAATGATCAAGGCGAG 0.652 ZNF536 9745 broad.mit.edu 37 19 31039733 31039733 + Silent SNP C C A TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr19:31039733C>A uc002nsu.1 + 4 3345 c.3207C>A c.(3205-3207)ATC>ATA p.I1069I ZNF536_uc010edd.1_Silent_p.I1069I NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1069 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CCAATATGATCAGCTCTCTAG 0.567 EGLN2 112398 broad.mit.edu 37 19 41292793 41292793 + Translation_Start_Site SNP C C T rs138702952 TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr19:41292793C>T uc010ehd.2 + 7 677 c.-324C>T c.(-326--322)TACGG>TATGG RAB4B_uc002opc.1_RNA|RAB4B_uc002opd.1_Silent_p.Y189Y|RAB4B_uc002ope.1_RNA|RAB4B_uc002opf.1_Silent_p.Y215Y NM_080732 NP_542770 Q96KS0 EGLN2_HUMAN EGL nine (C.elegans) homolog 2 cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) GCATTCAGTACGGGGATGCGT 0.682 DYSF 8291 broad.mit.edu 37 2 71797446 71797446 + Missense_Mutation SNP C C T TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr2:71797446C>T uc002sie.2 + 28 3389 c.3013C>T c.(3013-3015)CGG>TGG p.R1005W DYSF_uc010feg.2_Missense_Mutation_p.R1036W|DYSF_uc010feh.2_Missense_Mutation_p.R991W|DYSF_uc002sig.3_Missense_Mutation_p.R991W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1005W|DYSF_uc010fef.2_Missense_Mutation_p.R1022W|DYSF_uc010fei.2_Missense_Mutation_p.R1022W|DYSF_uc010fek.2_Missense_Mutation_p.R1023W|DYSF_uc010fej.2_Missense_Mutation_p.R992W|DYSF_uc010fel.2_Missense_Mutation_p.R992W|DYSF_uc010feo.2_Missense_Mutation_p.R1037W|DYSF_uc010fem.2_Missense_Mutation_p.R1006W|DYSF_uc010fen.2_Missense_Mutation_p.R1023W|DYSF_uc002sif.2_Missense_Mutation_p.R1006W NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1005 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 AGACCTCAACCGGGCTGTCGA 0.592 RMND5A 64795 broad.mit.edu 37 2 86998770 86998770 + Silent SNP C C T TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr2:86998770C>T uc010ytm.1 + 8 1424 c.1047C>T c.(1045-1047)CCC>CCT p.P349P RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Silent_p.P349P NM_022780 NP_073617 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog 349 ovary(1)|skin(1) 2 ACAATCCACCCATGAAATTGG 0.353 DUSP18 150290 broad.mit.edu 37 22 31059889 31059889 + Silent SNP G G A TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr22:31059889G>A uc003aiu.2 - 2 603 c.102C>T c.(100-102)GCC>GCT p.A34A SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Silent_p.A34A NM_152511 NP_689724 Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 34 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 TGTTGTTGGCGGCCACACCAT 0.522 CEP63 80254 broad.mit.edu 37 3 134256014 134256014 + Silent SNP G G A TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr3:134256014G>A uc003eqo.1 + 7 908 c.459G>A c.(457-459)TCG>TCA p.S153S CEP63_uc003eql.1_Silent_p.S153S|CEP63_uc003eqm.2_Silent_p.S153S|CEP63_uc003eqn.1_Silent_p.S153S NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 153 Potential. 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 GTCAGAAATCGCTGGACTGGG 0.443 RFC1 5981 broad.mit.edu 37 4 39310272 39310272 + Silent SNP G G A TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr4:39310272G>A uc003gty.1 - 13 2003 c.1869C>T c.(1867-1869)TCC>TCT p.S623S RFC1_uc003gtx.1_Silent_p.S623S NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 623 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 TTTTATCTTCGGAAGAACTCT 0.428 GABRB1 2560 broad.mit.edu 37 4 47427792 47427792 + Missense_Mutation SNP G G A TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr4:47427792G>A uc003gxh.2 + 9 1556 c.1182G>A c.(1180-1182)ATG>ATA p.M394I GABRB1_uc011bze.1_Missense_Mutation_p.M324I NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 394 Cytoplasmic (Probable). 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 ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGGCCACCATGTACTCCTATG 0.652 PCDHB3 56132 broad.mit.edu 37 5 140482357 140482357 + Silent SNP C C T TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr5:140482357C>T uc003lio.2 + 1 2124 c.2124C>T c.(2122-2124)TTC>TTT p.F708F uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 708 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTCCTGTTCGTGGCGGTGC 0.687 FAT2 2196 broad.mit.edu 37 5 150901071 150901071 + Missense_Mutation SNP C C T rs61743252 TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr5:150901071C>T uc003lue.3 - 18 11096 c.11083G>A c.(11083-11085)GAG>AAG p.E3695K GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.E388K NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3695 Extracellular (Potential). 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) TCCTGAAACTCGTAGAAGGTT 0.567 IRF4 3662 broad.mit.edu 37 6 398916 398916 + Silent SNP C C T TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr6:398916C>T uc003msz.3 + 6 839 c.726C>T c.(724-726)GCC>GCT p.A242A IRF4_uc010jne.1_Silent_p.A242A|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.A241A|IRF4_uc003mtc.1_Silent_p.A72A NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 242 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) TAAGGTCTGCCGAAGCCTTGG 0.587 T IGH@ MM RFX6 222546 broad.mit.edu 37 6 117246619 117246619 + Missense_Mutation SNP C C T TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr6:117246619C>T uc003pxm.2 + 16 1745 c.1682C>T c.(1681-1683)GCG>GTG p.A561V NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 561 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 TTTCCAGATGCGAGTAAAGCT 0.393 TBP 6908 broad.mit.edu 37 6 170873698 170873698 + Missense_Mutation SNP G G A TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr6:170873698G>A uc003qxt.2 + 4 795 c.563G>A c.(562-564)CGA>CAA p.R188Q TBP_uc003qxu.2_Missense_Mutation_p.R188Q|TBP_uc011ehf.1_Missense_Mutation_p.R168Q NM_003194 NP_003185 P20226 TBP_HUMAN TATA box binding protein 188 1. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) CTTCGTGCCCGAAACGCCGAA 0.323 TMEM168 64418 broad.mit.edu 37 7 112424364 112424364 + Silent SNP A A G TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr7:112424364A>G uc003vgn.2 - 2 909 c.517T>C c.(517-519)TTG>CTG p.L173L TMEM168_uc010lju.2_Silent_p.L173L|TMEM168_uc011kmr.1_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 173 Helical; (Potential). integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 TTCTCCACCAACATAGTTGTG 0.418 AASS 10157 broad.mit.edu 37 7 121717920 121717920 + Silent SNP G G A TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chr7:121717920G>A uc003vka.2 - 22 2730 c.2634C>T c.(2632-2634)ACC>ACT p.T878T AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.T878T|AASS_uc011knw.1_Silent_p.T366T NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 878 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) CTGCCATGGCGGTGGGTAACC 0.463 MSL3 10943 broad.mit.edu 37 X 11780981 11780981 + Missense_Mutation SNP A A G TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chrX:11780981A>G uc004cuw.2 + 7 719 c.614A>G c.(613-615)AAC>AGC p.N205S MSL3_uc004cuv.1_Missense_Mutation_p.N205S|MSL3_uc004cux.2_Missense_Mutation_p.N146S|MSL3_uc011mig.1_Missense_Mutation_p.N56S|MSL3_uc011mih.1_Missense_Mutation_p.N193S|MSL3_uc004cuy.2_Missense_Mutation_p.N39S|MSL3_uc011mii.1_Missense_Mutation_p.N39S NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 205 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGCCAGACCAACATCATAACG 0.408 SHROOM4 57477 broad.mit.edu 37 X 50376561 50376561 + Missense_Mutation SNP G G T TCGA-BR-A44T-01A-32D-A24D-08 TCGA-BR-A44T-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ce42ea-840a-4163-b78f-c911a0d95839 e741ed6d-93bc-4a36-b2b4-6e9368ef4455 g.chrX:50376561G>T uc004dpe.2 - 4 2538 c.2512C>A c.(2512-2514)CAT>AAT p.H838N SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.H722N NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 838 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) TCTGTGGCATGATATGGTTGG 0.448