Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut GRIK3 2899 broad.mit.edu 37 1 37346266 37346266 + Silent SNP C C G TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr1:37346266C>G uc001caz.2 - 3 654 c.519G>C c.(517-519)CGG>CGC p.R173R GRIK3_uc001cba.1_Silent_p.R173R NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 173 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CGGTGGCTGACCGCCACTTGA 0.622 NA 69 210 0 0 0.01441 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879561 144879561 + Missense_Mutation SNP A A G TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr1:144879561A>G uc001elw.3 - 27 4180 c.3889T>C c.(3889-3891)TGT>CGT p.C1297R NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.C1253R|PDE4DIP_uc001elv.3_Missense_Mutation_p.C304R NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1297 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) TGCTCCTCACACTCTGAAAAA 0.502 NA T PDGFRB MPD 4 55 0 0 0.001168 0 0 TRIM68 55128 broad.mit.edu 37 11 4623587 4623587 + Missense_Mutation SNP C C T rs150937700 byFrequency TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr11:4623587C>T uc001lzf.1 - 4 816 c.578G>A c.(577-579)CGA>CAA p.R193Q TRIM68_uc001lzg.1_5'UTR|TRIM68_uc010qyj.1_RNA|TRIM68_uc009yek.1_Missense_Mutation_p.R193Q NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 193 protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CTCTAGTAATCGCTGGTATTT 0.517 NA 10 53 0 0 0.006214 0 0 OR51T1 401665 broad.mit.edu 37 11 4903940 4903940 + Missense_Mutation SNP C C A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr11:4903940C>A uc010qyp.1 + 1 892 c.892C>A c.(892-894)CCA>ACA p.P298T NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CCACTCCACCCCAAGGGTGCT 0.493 NA 9 136 2.17888e-05 6.59552e-05 0.006214 1 0 OR51M1 390059 broad.mit.edu 37 11 5410836 5410836 + Missense_Mutation SNP C C A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr11:5410836C>A uc010qzc.1 + 1 208 c.208C>A c.(208-210)CCC>ACC p.P70T HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 70 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGCACACACCCATGTACTA 0.468 NA 7 115 8.12818e-05 0.000239568 0.001984 1 0 OR2AG1 144125 broad.mit.edu 37 11 6806758 6806758 + Missense_Mutation SNP A A G TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr11:6806758A>G uc001mer.1 + 1 490 c.490A>G c.(490-492)ATG>GTG p.M164V NM_001004489 NP_001004489 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, 164 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CGTGTATACCATGCACTATCC 0.532 NA 5 108 0 0 0.000602 0 0 GRM5 2915 broad.mit.edu 37 11 88337977 88337977 + Missense_Mutation SNP G G A rs148343362 TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr11:88337977G>A uc001pcq.2 - 4 1503 c.1303C>T c.(1303-1305)CGG>TGG p.R435W GRM5_uc009yvm.2_Missense_Mutation_p.R435W NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 435 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AAAAGTTTCCGTCCATCAATT 0.483 NA 33 53 0 0 0.010818 0 0 CNTN5 53942 broad.mit.edu 37 11 99872788 99872788 + Silent SNP G G A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr11:99872788G>A uc001pga.2 + 9 1239 c.900G>A c.(898-900)CCG>CCA p.P300P CNTN5_uc009ywv.1_Silent_p.P300P|CNTN5_uc001pfz.2_Silent_p.P300P|CNTN5_uc001pgb.2_Silent_p.P226P NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 300 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AATATGAGCCGAAAATTGAGG 0.363 NA 7 24 0 0 0.006214 0 0 ATXN2 6311 broad.mit.edu 37 12 111923133 111923133 + Silent SNP A A C TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr12:111923133A>C uc001tsj.2 - 18 3102 c.2940T>G c.(2938-2940)CCT>CCG p.P980P ATXN2_uc001tsh.2_Silent_p.P715P|ATXN2_uc001tsi.2_Silent_p.P691P|ATXN2_uc001tsk.2_Intron|ATXN2_uc001tsg.2_Silent_p.P166P NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 980 Pro-rich. 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 TTGGGTATAAAGGCTTGAGAG 0.373 NA 46 96 0 0 0.01441 0 0 ARHGAP5 394 broad.mit.edu 37 14 32561096 32561096 + Silent SNP T T C TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr14:32561096T>C uc001wrl.2 + 2 1460 c.1221T>C c.(1219-1221)ACT>ACC p.T407T ARHGAP5_uc001wrm.2_Silent_p.T407T|ARHGAP5_uc001wrn.2_Silent_p.T407T|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 407 FF 2. 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) TCCTGAGCACTTTAGAAGCTG 0.378 NSCLC(9;77 350 3443 29227 41353) NA 24 86 0 0 0.004656 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42446614 42446614 + Missense_Mutation SNP G G A rs142310375 TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr15:42446614G>A uc001zoz.2 - 3 290 c.227C>T c.(226-228)GCG>GTG p.A76V PLA2G4F_uc010bcr.2_5'UTR|PLA2G4F_uc001zpa.2_5'UTR|PLA2G4F_uc010bcs.2_5'UTR NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 76 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GCTTGGGGACGCCGTGGGCAG 0.592 NA 8 24 0 0 0.00308 0 0 UNC45A 55898 broad.mit.edu 37 15 91482981 91482981 + Silent SNP G G A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr15:91482981G>A uc002bqg.2 + 5 787 c.447G>A c.(445-447)ACG>ACA p.T149T UNC45A_uc002bqd.2_Silent_p.T134T|UNC45A_uc010uqo.1_Silent_p.T141T|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Silent_p.T149T NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 149 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TGTCCTCGACGGATGCCAAAG 0.483 NA 27 29 0 0 0.012213 0 0 DPP9 91039 broad.mit.edu 37 19 4695514 4695514 + Missense_Mutation SNP A A G TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr19:4695514A>G uc002mba.2 - 12 1487 c.1229T>C c.(1228-1230)CTC>CCC p.L410P DPP9_uc002mbb.2_Missense_Mutation_p.L410P|DPP9_uc002mbc.2_Intron NM_139159 NP_631898 Q86TI2 DPP9_HUMAN dipeptidylpeptidase 9 381 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) GGCCGGGGGGAGGAGGACGAG 0.647 NA 2 6 0 0 0.004672 0 0 GRIK5 2901 broad.mit.edu 37 19 42558472 42558472 + Missense_Mutation SNP C C T TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr19:42558472C>T uc002osj.1 - 8 1091 c.1056G>A c.(1054-1056)ATG>ATA p.M352I GRIK5_uc010eib.1_Missense_Mutation_p.M271I NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 352 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) TCGGGCTCACCATGCGCAGGT 0.647 NA 18 45 0 0 0.008871 0 0 EPCAM 4072 broad.mit.edu 37 2 47601056 47601056 + Missense_Mutation SNP C C G TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr2:47601056C>G uc002rvx.2 + 3 652 c.294C>G c.(292-294)GAC>GAG p.D98E EPCAM_uc002rvw.2_Missense_Mutation_p.D126E NM_002354 NP_002345 P16422 EPCAM_HUMAN epithelial cell adhesion molecule precursor 98 Extracellular (Potential).|Thyroglobulin type-1. positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding skin(1) 1 ATGATCCTGACTGCGATGAGA 0.507 NA Lynch_syndrome 3 50 0 0 0.004672 0 0 REL 5966 broad.mit.edu 37 2 61149129 61149129 + Missense_Mutation SNP C C T rs144119768 by1000genomes TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr2:61149129C>T uc002sam.1 + 11 1543 c.1319C>T c.(1318-1320)TCG>TTG p.S440L REL_uc002san.1_Missense_Mutation_p.S408L NM_002908 NP_002899 Q04864 REL_HUMAN v-rel reticuloendotheliosis viral oncogene 440 positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) CCTTCTAATTCGCAAGGTATC 0.458 NA A Hodgkin Lymphoma 11 66 0 0 0.010729 0 0 RAB6C 84084 broad.mit.edu 37 2 130738399 130738399 + Silent SNP C C T TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr2:130738399C>T uc002tpx.1 + 1 1165 c.711C>T c.(709-711)TTC>TTT p.F237F uc002tpw.1_5'Flank NM_032144 NP_115520 Q9H0N0 RAB6C_HUMAN RAB6C, member RAS oncogene family 237 protein transport|response to drug|small GTPase mediated signal transduction GTP binding|GTPase activity lung(1) 1 Colorectal(110;0.1) TGAACCTTTTCCCTTCATTAA 0.428 NA 9 69 0 0 0.008291 0 0 ARPC2 10109 broad.mit.edu 37 2 219099087 219099087 + Missense_Mutation SNP G G T TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr2:219099087G>T uc002vhd.2 + 5 347 c.235G>T c.(235-237)GTG>TTG p.V79L ARPC2_uc002vhe.2_Missense_Mutation_p.V79L|ARPC2_uc002vhf.2_5'Flank NM_152862 NP_690601 O15144 ARPC2_HUMAN actin related protein 2/3 complex subunit 2 79 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton ovary(1) 1 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) ATTAAAGAGGGTGTACGGGAG 0.343 NA 12 76 3.27435e-08 1.07861e-07 0.00245 1 0 DOCK10 55619 broad.mit.edu 37 2 225630503 225630503 + Missense_Mutation SNP G G C TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr2:225630503G>C uc010fwz.1 - 56 6735 c.6496C>G c.(6496-6498)CGA>GGA p.R2166G DOCK10_uc002vob.2_Missense_Mutation_p.R2160G|DOCK10_uc002voa.2_Missense_Mutation_p.S847W NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 2166 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTAATTACTCGAGTGCAGGTT 0.502 NA 8 25 0 0 0.006214 0 0 FAM65C 140876 broad.mit.edu 37 20 49247380 49247380 + Missense_Mutation SNP G G A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr20:49247380G>A uc002xvm.2 - 2 323 c.5C>T c.(4-6)TCG>TTG p.S2L FAM65C_uc010zyt.1_Missense_Mutation_p.S6L|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.S2L NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 2 ovary(2) 2 CAACCTCACCGACATGGTGGT 0.662 NA 4 18 0 0 0.000602 0 0 FOXRED2 80020 broad.mit.edu 37 22 36902334 36902334 + Missense_Mutation SNP C C T TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr22:36902334C>T uc003apn.3 - 1 244 c.136G>A c.(136-138)GCC>ACC p.A46T FOXRED2_uc003apo.3_Missense_Mutation_p.A46T|FOXRED2_uc003app.3_Missense_Mutation_p.A46T NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 46 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding lung(1)|kidney(1) 2 AGGAAGTAGGCCATCTGCAGG 0.736 NA 5 4 0 0 0.000602 0 0 TUBB 203068 broad.mit.edu 37 6 30691480 30691480 + Missense_Mutation SNP C C A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr6:30691480C>A uc003nrl.2 + 4 768 c.641C>A c.(640-642)ACT>AAT p.T214N TUBB_uc003nrk.1_Missense_Mutation_p.T214N|TUBB_uc011dmq.1_Missense_Mutation_p.T142N NM_178014 NP_821133 P07437 TBB5_HUMAN tubulin, beta 214 cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding ovary(1) 1 Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361) TGCTTCCGCACTCTGAAGCTG 0.537 NA 4 105 1.024e-07 3.2768e-07 0.000602 1 0 TMEM63B 55362 broad.mit.edu 37 6 44102330 44102330 + Silent SNP C C G TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr6:44102330C>G uc003owr.2 + 2 73 c.9C>G c.(7-9)CCC>CCG p.P3P TMEM63B_uc003owq.1_Silent_p.P3P|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.2_5'Flank NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 3 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CCATGCTGCCCTTTCTGCTGG 0.652 NA 10 21 0 0 0.006214 0 0 LPA 4018 broad.mit.edu 37 6 160999606 160999606 + Missense_Mutation SNP T T G TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr6:160999606T>G uc003qtl.2 - 28 4540 c.4420A>C c.(4420-4422)ACA>CCA p.T1474P NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3982 Kringle 35. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GTGGGAGTTGTGAGGACACTC 0.498 NA 6 109 0 0 0.00308 0 0 CHD7 55636 broad.mit.edu 37 8 61766029 61766029 + Missense_Mutation SNP G G A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr8:61766029G>A uc003xue.2 + 31 7222 c.6745G>A c.(6745-6747)GAT>AAT p.D2249N NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2249 Glu-rich. 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) GGAGGATGACGATAAGTCGGA 0.522 NA 5 53 0 0 0.000602 0 0 CSMD3 114788 broad.mit.edu 37 8 113402962 113402962 + Nonsense_Mutation SNP G G C TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr8:113402962G>C uc003ynu.2 - 36 6024 c.5865C>G c.(5863-5865)TAC>TAG p.Y1955* CSMD3_uc003yns.2_Nonsense_Mutation_p.Y1157*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Y1915*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Y1851* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1955 Extracellular (Potential).|CUB 11. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAGGCTCAGGGTATCCAGGTG 0.398 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 34 0 0 0.00499 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20181107 20181107 + Missense_Mutation SNP C C T TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chrX:20181107C>T uc004czu.2 - 19 1816 c.1816G>A c.(1816-1818)GTC>ATC p.V606I RPS6KA3_uc011mjk.1_Missense_Mutation_p.V576I|RPS6KA3_uc004czv.2_Missense_Mutation_p.V593I|RPS6KA3_uc011mjl.1_Missense_Mutation_p.V577I|RPS6KA3_uc011mjm.1_Missense_Mutation_p.V578I NM_004586 NP_004577 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 606 Protein kinase 2. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1) 8 TAGAGTAGGACACCAAGACTC 0.338 NA 39 61 0 0 0.013114 0 0 XK 7504 broad.mit.edu 37 X 37553663 37553663 + Missense_Mutation SNP C C A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chrX:37553663C>A uc004ddq.2 + 2 452 c.370C>A c.(370-372)CAG>AAG p.Q124K NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 124 Extracellular (Potential). amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) GGAGGTGGGCCAGGCAGAAGG 0.537 NA 7 6 2.0095e-06 6.25177e-06 0.001984 1 0 VSIG1 340547 broad.mit.edu 37 X 107310218 107310218 + Missense_Mutation SNP G G A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chrX:107310218G>A uc004eno.2 + 3 427 c.266G>A c.(265-267)CGA>CAA p.R89Q VSIG1_uc011msk.1_Missense_Mutation_p.R125Q NM_182607 NP_872413 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 89 Extracellular (Potential).|Ig-like V-type 1. integral to membrane p.R89G(1) upper_aerodigestive_tract(1)|ovary(1) 2 TTTAAAGATCGAATTACAGGG 0.438 NA 8 95 0 0 0.00308 0 0 ARHGAP4 393 broad.mit.edu 37 X 153184369 153184369 + Missense_Mutation SNP C C A TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chrX:153184369C>A uc004fjk.1 - 7 991 c.949G>T c.(949-951)GAC>TAC p.D317Y ARHGAP4_uc011mzf.1_Missense_Mutation_p.D294Y|ARHGAP4_uc004fjl.1_Missense_Mutation_p.D357Y|ARHGAP4_uc010nup.1_RNA NM_001666 NP_001657 P98171 RHG04_HUMAN Rho GTPase activating protein 4 isoform 2 317 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGGCTTTGTCCCCTGGAGGA 0.647 NA 6 71 0.00116845 0.00335554 0.001168 1 0 SCN8A 6334 broad.mit.edu 37 12 52200312 52200313 + Frame_Shift_Ins INS - - T TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr12:52200312_52200313insT uc001ryw.2 + 27 5220_5221 c.5042_5043insT c.(5041-5043)GGTfs p.G1681fs NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1681 IV. axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CACGAGGCTGGTATCGATGACA 0.485 NA 29 88 --- --- --- --- NA NA NA NA NA BTBD3 22903 broad.mit.edu 37 20 11899098 11899100 + In_Frame_Del DEL AAG AAG - TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 AAG AAG - - AAG AAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr20:11899098_11899100delAAG uc002wnz.2 + 1 534_536 c.175_177delAAG c.(175-177)AAGdel p.K61del BTBD3_uc002wny.2_5'UTR|BTBD3_uc002woa.2_5'UTR|BTBD3_uc010zrf.1_5'UTR|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank NM_014962 NP_055777 Q9Y2F9 BTBD3_HUMAN BTB/POZ domain containing protein 3 isoform a 61 ovary(2)|central_nervous_system(1) 3 GAAGACTAAAAAGAAGAAGATGG 0.379 NA 44 185 --- --- --- --- NA NA NA NA NA TPTE 7179 broad.mit.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-78-7163-01A-12D-2063-08 TCGA-78-7163-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1cdd6a30-03ce-4c46-86ab-8042ef4265b6 3f063fbc-81bd-4954-8c0e-6c03287f17af g.chr21:10944697delA uc002yip.1 - 11 905 c.537delT c.(535-537)TTTfs p.F179fs TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Frame_Shift_Del_p.F161fs|TPTE_uc002yir.1_Frame_Shift_Del_p.F141fs|TPTE_uc010gkv.1_Frame_Shift_Del_p.F41fs NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 179 Helical; (Potential). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTTAATGTCAAAAAAAATGT 0.299 NA 7 316 --- --- --- --- NA NA NA NA NA