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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample EIF4G3 8672 broad.mit.edu 37 1 21329220 21329220 + Nonsense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:21329220G>A uc001bec.2 - 3 272 c.16C>T c.(16-18)CAA>TAA p.Q6* EIF4G3_uc010odj.1_Nonsense_Mutation_p.Q6*|EIF4G3_uc009vpz.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc001bed.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc001bef.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc001bee.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc001beg.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc010odk.1_Nonsense_Mutation_p.Q6*|EIF4G3_uc001beh.2_Nonsense_Mutation_p.Q6* NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 6 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GAACGGGTTTGAGGTTGTGAA 0.443 NaN 0 0 0 0.01441 0 70 143 KIAA1522 57648 broad.mit.edu 37 1 33235330 33235330 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:33235330C>T uc001bvv.2 + 5 602 c.466C>T c.(466-468)CGG>TGG p.R156W KIAA1522_uc001bvu.1_Missense_Mutation_p.R215W|KIAA1522_uc010ohm.1_Missense_Mutation_p.R167W|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 156 Poly-Arg. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AGGGCGGCGTCGGCGGGAGCG 0.627 NaN 0 0 0 0.010729 0 9 45 KIAA1522 57648 broad.mit.edu 37 1 33236198 33236198 + Nonsense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:33236198C>G uc001bvv.2 + 6 1377 c.1241C>G c.(1240-1242)TCA>TGA p.S414* KIAA1522_uc001bvu.1_Nonsense_Mutation_p.S473*|KIAA1522_uc010ohm.1_Nonsense_Mutation_p.S425*|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 414 Ser-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GCTGAGGCCTCAGACACACTC 0.677 NaN 0 0 0 0.006214 0 7 67 CYP4B1 1580 broad.mit.edu 37 1 47283813 47283813 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:47283813C>G uc001cqm.3 + 11 1364 c.1280C>G c.(1279-1281)TCT>TGT p.S427C CYP4B1_uc001cqn.3_Missense_Mutation_p.S428C|CYP4B1_uc009vym.2_Missense_Mutation_p.S413C|CYP4B1_uc010omk.1_Missense_Mutation_p.S264C NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 427 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) GTCTTTGACTCTCTGCGCTTT 0.582 NaN 0 0 0 0.007413 0 16 107 PCSK9 255738 broad.mit.edu 37 1 55521852 55521852 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:55521852C>T uc001cyf.1 + 6 1277 c.986C>T c.(985-987)TCA>TTA p.S329L PCSK9_uc010oom.1_RNA NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 329 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 TCCCCAGCCTCAGCTCCCGAG 0.507 NaN 0 0 0 0.008291 0 8 9 DEPDC1 55635 broad.mit.edu 37 1 68949729 68949729 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:68949729C>G uc001dem.3 - 7 931 c.814G>C c.(814-816)GAA>CAA p.E272Q DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Missense_Mutation_p.E272Q NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN DEP domain containing 1 isoform a 272 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) ACATCTCGTTCAAATCCAACA 0.294 NaN 0 0 0 0.016723 0 9 29 LRRIQ3 127255 broad.mit.edu 37 1 74649182 74649182 + Missense_Mutation SNP T T C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:74649182T>C uc001dfy.3 - 2 379 c.187A>G c.(187-189)ACA>GCA p.T63A LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 63 LRR 1. ovary(2) 2 TGAATATCTGTAATAAaattg 0.154 NaN 0 0 0 0.007413 0 16 18 RTCD1 8634 broad.mit.edu 37 1 100756986 100756986 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:100756986G>C uc001dtc.2 + 11 1245 c.1027G>C c.(1027-1029)GAT>CAT p.D343H RTCD1_uc001dtd.2_Missense_Mutation_p.D356H NM_003729 NP_003720 O00442 RTC1_HUMAN RNA terminal phosphate cyclase domain 1 isoform 343 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity 0 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) GAAATCAGAAGATGAAGAAGA 0.358 NaN 0 0 0 0.028581 0 13 51 DCST2 127579 broad.mit.edu 37 1 154995858 154995858 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:154995858C>A uc001fgm.2 - 13 2026 c.1946G>T c.(1945-1947)GGG>GTG p.G649V DCST2_uc009wpb.2_RNA NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 649 Cytoplasmic (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTCCAGGTCCCCCTGGTAGGA 0.602 NaN 1 0 2.62699e-14 0.024245 2.79982e-14 11 21 GBA 2629 broad.mit.edu 37 1 155207361 155207361 + Missense_Mutation SNP T T A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:155207361T>A uc001fjh.2 - 7 920 c.770A>T c.(769-771)GAT>GTT p.D257V RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.D144V|GBA_uc010pfx.1_Missense_Mutation_p.D208V|GBA_uc001fji.2_Missense_Mutation_p.D257V|GBA_uc001fjj.2_Missense_Mutation_p.D257V|GBA_uc001fjk.2_Missense_Mutation_p.D257V|GBA_uc001fjl.2_Missense_Mutation_p.D257V|GBA_uc010pfy.1_Missense_Mutation_p.D170V|GBA_uc009wqk.1_Missense_Mutation_p.D170V NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 257 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) AGCATAGGCATCCAGGAACCT 0.423 NaN Gaucher_disease_type_I 0 0 0 0.008871 0 9 13 ASH1L 55870 broad.mit.edu 37 1 155449087 155449087 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:155449087G>A uc009wqq.2 - 3 4054 c.3574C>T c.(3574-3576)CAT>TAT p.H1192Y ASH1L_uc001fkt.2_Missense_Mutation_p.H1192Y|ASH1L_uc009wqr.1_Missense_Mutation_p.H1192Y NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1192 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TCATCACTATGAGACTCACTG 0.443 NaN 0 0 0 0.013726 0 28 47 ASH1L 55870 broad.mit.edu 37 1 155449222 155449222 + Nonsense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:155449222G>A uc009wqq.2 - 3 3919 c.3439C>T c.(3439-3441)CAG>TAG p.Q1147* ASH1L_uc001fkt.2_Nonsense_Mutation_p.Q1147*|ASH1L_uc009wqr.1_Nonsense_Mutation_p.Q1147* NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1147 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GCAAGAGTCTGAATCATACTG 0.473 NaN 0 0 0 0.00499 0 16 46 TNN 63923 broad.mit.edu 37 1 175066815 175066815 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:175066815G>A uc001gkl.1 + 8 1964 c.1851G>A c.(1849-1851)CCG>CCA p.P617P TNN_uc010pmx.1_Intron NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 617 Fibronectin type-III 4. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCAACGCCCCGACAGGTAACA 0.512 NaN 0 0 0 0.021553 0 4 94 FAM5B 57795 broad.mit.edu 37 1 177245417 177245417 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:177245417G>A uc001glf.2 + 6 1171 c.859G>A c.(859-861)GAG>AAG p.E287K FAM5B_uc010pna.1_Missense_Mutation_p.E37K|FAM5B_uc001glg.2_Missense_Mutation_p.E182K NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 287 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 CTCTGAGGGTGAGCTCGTCTG 0.572 NaN 0 0 0 0.010504 0 18 54 PRG4 10216 broad.mit.edu 37 1 186276100 186276100 + Missense_Mutation SNP A A C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:186276100A>C uc001gru.3 + 7 1300 c.1249A>C c.(1249-1251)ACC>CCC p.T417P PRG4_uc001grt.3_Missense_Mutation_p.T376P|PRG4_uc009wyl.2_Missense_Mutation_p.T324P|PRG4_uc009wym.2_Missense_Mutation_p.T283P|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 417 9.|59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 ACCCACCACCACCAAGGAGCC 0.652 NaN 0 0 0 0.006214 0 5 105 CFHR1 3078 broad.mit.edu 37 1 196794771 196794771 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:196794771G>C uc001gtn.2 + 2 337 c.223G>C c.(223-225)GAA>CAA p.E75Q CFHR1_uc001gtm.2_Intron NM_002113 NP_002104 Q03591 FHR1_HUMAN complement factor H-related 1 precursor 75 Sushi 1. complement activation extracellular space 0 ATGCACAGAAGAAGGATGGTC 0.388 NaN 0 0 0 0.008361 0 21 46 MTR 4548 broad.mit.edu 37 1 236978926 236978926 + Missense_Mutation SNP A A G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:236978926A>G uc001hyi.3 + 7 1055 c.632A>G c.(631-633)AAT>AGT p.N211S MTR_uc010pxv.1_RNA|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.N211S|MTR_uc010pxy.1_Missense_Mutation_p.N211S|MTR_uc009xgj.1_Missense_Mutation_p.I42V NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 211 Hcy-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GCACTCCAAAATCTTTTTGAG 0.363 NaN 0 0 0 0.014323 0 17 50 C10orf18 54906 broad.mit.edu 37 10 5798670 5798670 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr10:5798670G>A uc001iij.2 + 16 7326 c.6701G>A c.(6700-6702)AGA>AAA p.R2234K C10orf18_uc001iik.2_Missense_Mutation_p.R1078K NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 2234 ovary(1)|central_nervous_system(1) 2 ATCATCATCAGAAATGAAGAT 0.393 NaN 0 0 0 0.027356 0 25 46 WAC 51322 broad.mit.edu 37 10 28897274 28897274 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr10:28897274C>T uc001iuf.2 + 8 1164 c.1079C>T c.(1078-1080)CCA>CTA p.P360L WAC_uc001iud.2_Missense_Mutation_p.P315L|WAC_uc001iue.2_Missense_Mutation_p.P50L|WAC_uc009xlb.2_Missense_Mutation_p.P315L|WAC_uc001iug.2_Missense_Mutation_p.P257L|WAC_uc001iuh.2_Missense_Mutation_p.P315L NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 360 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 CTTCAGGACCCAAATCTTCTT 0.448 NaN 0 0 0 0.010729 0 11 11 CHAT 1103 broad.mit.edu 37 10 50873030 50873030 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr10:50873030G>A uc001jhz.2 + 15 2338 c.2185G>A c.(2185-2187)GAG>AAG p.E729K CHAT_uc001jhv.1_Missense_Mutation_p.E611K|CHAT_uc001jhx.1_Missense_Mutation_p.E611K|CHAT_uc001jhy.1_Missense_Mutation_p.E611K|CHAT_uc001jia.2_Missense_Mutation_p.E611K|CHAT_uc010qgs.1_Intron NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 729 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GCCGCCTACTGAGAGCAAGCC 0.522 NaN 0 0 0 0.01441 0 54 60 HECTD2 143279 broad.mit.edu 37 10 93252132 93252132 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr10:93252132G>C uc001khl.2 + 13 1423 c.1323G>C c.(1321-1323)TTG>TTC p.L441F LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.L445F|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_Missense_Mutation_p.L30F|HECTD2_uc001khn.1_Missense_Mutation_p.L91F NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN HECT domain containing 2 isoform a 441 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity skin(1) 1 GAGCCGATTTGAAAAAGAAGT 0.348 NaN 0 0 0 0.013537 0 12 14 MYOF 26509 broad.mit.edu 37 10 95123738 95123738 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr10:95123738C>T uc001kin.2 - 27 2971 c.2848G>A c.(2848-2850)GAG>AAG p.E950K MYOF_uc001kio.2_Missense_Mutation_p.E937K|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 950 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 TAGGTGTCCTCGGCCGGCTTC 0.612 NaN 0 0 0 0.01441 0 70 63 MUC6 4588 broad.mit.edu 37 11 1017507 1017507 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:1017507G>A uc001lsw.2 - 31 5345 c.5294C>T c.(5293-5295)TCT>TTT p.S1765F NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1765 Thr-rich.|Approximate repeats. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTGGTGGTAGAAGTTGAGGT 0.577 NaN 0 0 0 0.01892 0 19 649 PDE3B 5140 broad.mit.edu 37 11 14839736 14839736 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:14839736G>A uc001mln.2 + 6 1883 c.1530G>A c.(1528-1530)TTG>TTA p.L510L PDE3B_uc010rcr.1_Silent_p.L459L NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 510 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 AAGGTGTTTTGTCCAGTCTGA 0.323 NaN 0 0 0 0.004672 0 3 11 OR5W2 390148 broad.mit.edu 37 11 55681259 55681259 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:55681259G>A uc010rir.1 - 1 800 c.800C>T c.(799-801)TCT>TTT p.S267F NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTGATCTAGAGAATAGGAAGA 0.438 NaN 0 0 0 0.021553 0 6 36 SCGB2A1 4246 broad.mit.edu 37 11 61978051 61978051 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:61978051G>A uc001nta.2 + 2 286 c.222G>A c.(220-222)CTG>CTA p.L74L NM_002407 NP_002398 O75556 SG2A1_HUMAN secretoglobin, family 2A, member 1 precursor 74 extracellular region androgen binding 0 ATAGAACTCTGAAAAACTTTG 0.418 NaN 0 0 0 0.00499 0 15 41 SLC22A10 387775 broad.mit.edu 37 11 63072221 63072221 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:63072221G>C uc009yor.2 + 9 1666 c.1458G>C c.(1456-1458)TTG>TTC p.L486F SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_3'UTR NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 486 Helical; (Potential). integral to membrane transmembrane transporter activity ovary(2) 2 CTCCCCTCTTGATGACCTTAA 0.408 NaN 0 0 0 0.010729 0 11 68 C2CD3 26005 broad.mit.edu 37 11 73814325 73814325 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:73814325C>T uc001ouu.2 - 14 2658 c.2431G>A c.(2431-2433)GTG>ATG p.V811M NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 811 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) CCATCTGGCACCATCAACAGC 0.413 NaN 0 0 0 0.01892 0 23 105 PGM2L1 283209 broad.mit.edu 37 11 74053678 74053678 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:74053678G>A uc001ovb.1 - 12 1756 c.1460C>T c.(1459-1461)TCA>TTA p.S487L NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 487 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity ovary(1) 1 Breast(11;3.32e-06) GGAAGTTTTTGAAATATGATA 0.289 NaN 0 0 0 0.016723 0 9 37 INTS4 92105 broad.mit.edu 37 11 77669853 77669853 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:77669853C>T uc001oys.2 - 7 764 c.736G>A c.(736-738)GAA>AAA p.E246K INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.E246K NM_033547 NP_291025 Q96HW7 INT4_HUMAN integrator complex subunit 4 246 HEAT 4. snRNA processing integrator complex protein binding ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) CGCACTTGTTCATAGTCATCA 0.428 NaN 0 0 0 0.001984 0 6 31 SYTL2 54843 broad.mit.edu 37 11 85445049 85445049 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:85445049G>C uc010rth.1 - 6 1596 c.1320C>G c.(1318-1320)ATC>ATG p.I440M SYTL2_uc010rtg.1_Missense_Mutation_p.I441M|SYTL2_uc010rti.1_Missense_Mutation_p.I440M|SYTL2_uc010rtj.1_Missense_Mutation_p.I392M|SYTL2_uc001pbf.3_Missense_Mutation_p.I440M|SYTL2_uc010rtf.1_Missense_Mutation_p.I298M NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 440 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TGGGTTCATTGATGGTTGGTG 0.383 NaN 0 0 0 0.01441 0 39 80 NAALAD2 10003 broad.mit.edu 37 11 89885588 89885588 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:89885588G>A uc001pdf.3 + 6 841 c.732G>A c.(730-732)CAG>CAA p.Q244Q NAALAD2_uc009yvx.2_Silent_p.Q244Q|NAALAD2_uc009yvy.2_Silent_p.Q244Q|NAALAD2_uc001pdd.2_Silent_p.Q244Q|NAALAD2_uc001pde.2_Silent_p.Q244Q NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 244 Extracellular (Potential). proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CTGCAGCCCAGAGAGGAAATG 0.473 NaN 0 0 0 0.006122 0 14 72 CASP4 837 broad.mit.edu 37 11 104815563 104815563 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:104815563C>G uc001pid.1 - 8 1124 c.1051G>C c.(1051-1053)GAA>CAA p.E351Q CASP4_uc001pib.1_Missense_Mutation_p.E295Q|CASP4_uc009yxg.1_Missense_Mutation_p.E260Q NM_001225 NP_001216 P49662 CASP4_HUMAN caspase 4 isoform alpha precursor 351 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding lung(2)|ovary(1)|skin(1) 4 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) CTTGGAGTTTCAAATGATTGC 0.403 NaN 0 0 0 0.001984 0 5 27 GLB1L3 112937 broad.mit.edu 37 11 134180464 134180464 + Splice_Site SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:134180464G>C uc009zdf.2 + 12 1460 c.1100_splice c.e12-1 p.D367_splice GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_Splice_Site NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) GTGTCTTGCAGACTATGATGC 0.522 NaN 0 0 0 0.00308 0 6 17 CHD4 1108 broad.mit.edu 37 12 6705273 6705273 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:6705273C>G uc001qpo.2 - 13 2087 c.1923G>C c.(1921-1923)TTG>TTC p.L641F CHD4_uc001qpn.2_Missense_Mutation_p.L634F|CHD4_uc001qpp.2_Missense_Mutation_p.L638F NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 641 Chromo 2. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GCCACTTGATCAAGTAGTGGA 0.507 NaN 0 0 0 0.013726 0 31 75 CHD4 1108 broad.mit.edu 37 12 6705294 6705294 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:6705294C>G uc001qpo.2 - 13 2066 c.1902G>C c.(1900-1902)AAG>AAC p.K634N CHD4_uc001qpn.2_Missense_Mutation_p.K627N|CHD4_uc001qpp.2_Missense_Mutation_p.K631N NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 634 Chromo 2. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CGTGGCCCTTCTTGTCCACAC 0.507 NaN 0 0 0 0.007291 0 27 65 CD163 9332 broad.mit.edu 37 12 7640120 7640120 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:7640120C>A uc001qsz.3 - 8 2013 c.1885G>T c.(1885-1887)GCC>TCC p.A629S CD163_uc001qta.3_Missense_Mutation_p.A629S|CD163_uc009zfw.2_Missense_Mutation_p.A662S NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 629 SRCR 6.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 GTAGAAAGGGCAACTCCACAT 0.507 NaN 1 0 2.61193e-14 0.009535 2.79603e-14 28 116 APOBEC1 339 broad.mit.edu 37 12 7805382 7805382 + Missense_Mutation SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:7805382G>T uc001qtb.2 - 3 128 c.94C>A c.(94-96)CTT>ATT p.L32I APOBEC1_uc001qtc.2_5'UTR|APOBEC1_uc010sgf.1_Missense_Mutation_p.L32I NM_001644 NP_001635 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme 32 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding 0 TCTTTACGAAGTTCTCTGGGG 0.478 NaN 1 0 2.24059e-21 0.00632 2.44154e-21 20 54 PKP2 5318 broad.mit.edu 37 12 32977077 32977077 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:32977077C>T uc001rlj.3 - 8 1823 c.1708G>A c.(1708-1710)GCT>ACT p.A570T PKP2_uc001rlk.3_Missense_Mutation_p.A526T|PKP2_uc010skj.1_Missense_Mutation_p.A526T NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 570 cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CTCCCATCAGCGCCAGCAGAA 0.413 NaN 0 0 0 0.021523 0 23 40 KRT80 144501 broad.mit.edu 37 12 52574698 52574698 + Nonsense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:52574698G>A uc001rzx.2 - 3 657 c.559C>T c.(559-561)CAG>TAG p.Q187* KRT80_uc001rzw.2_Nonsense_Mutation_p.Q124*|KRT80_uc001rzy.2_Nonsense_Mutation_p.Q187* NM_182507 NP_872313 Q6KB66 K2C80_HUMAN keratin 80 isoform a 187 Coil 1B.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.108) TTCTTCAGCTGAACAAAGGTG 0.582 NaN 0 0 0 0.007291 0 24 40 KRT80 144501 broad.mit.edu 37 12 52574708 52574708 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:52574708G>A uc001rzx.2 - 3 647 c.549C>T c.(547-549)TTC>TTT p.F183F KRT80_uc001rzw.2_Silent_p.F120F|KRT80_uc001rzy.2_Silent_p.F183F NM_182507 NP_872313 Q6KB66 K2C80_HUMAN keratin 80 isoform a 183 Coil 1B.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.108) GAACAAAGGTGAACTCCATGT 0.592 NaN 0 0 0 0.008361 0 24 43 OR9K2 441639 broad.mit.edu 37 12 55523876 55523876 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:55523876C>T uc010spe.1 + 1 324 c.324C>T c.(322-324)ATC>ATT p.I108I NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 108 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 AGGCTATGATCAACTTCTGGT 0.453 NaN 0 0 0 0.028581 0 16 64 PAN2 9924 broad.mit.edu 37 12 56721825 56721825 + Missense_Mutation SNP A A T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:56721825A>T uc001skx.2 - 5 978 c.605T>A c.(604-606)ATG>AAG p.M202K PAN2_uc001skz.2_Missense_Mutation_p.M202K|PAN2_uc001sky.2_Missense_Mutation_p.M202K NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 202 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 TGTCTGTCTCATGATGGTGAC 0.507 NaN 0 0 0 0.001984 0 6 33 MON2 23041 broad.mit.edu 37 12 62986494 62986494 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:62986494C>G uc001sre.2 + 35 5510 c.5119C>G c.(5119-5121)CCA>GCA p.P1707A MON2_uc009zqj.2_3'UTR|MON2_uc010ssl.1_Missense_Mutation_p.P1635A|MON2_uc010ssm.1_Missense_Mutation_p.P1678A|MON2_uc010ssn.1_Missense_Mutation_p.P1701A|MON2_uc001srf.2_Missense_Mutation_p.P1470A|MON2_uc001srg.2_Missense_Mutation_p.P576A NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 1708 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TTTCATGCAGCCACCAGCATC 0.393 NaN 0 0 0 0.00632 0 23 42 DOCK9 23348 broad.mit.edu 37 13 99459962 99459962 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr13:99459962C>G uc001vnt.2 - 50 5567 c.5512G>C c.(5512-5514)GAT>CAT p.D1838H DOCK9_uc001vnw.2_Missense_Mutation_p.D1837H|DOCK9_uc001vnq.2_Missense_Mutation_p.D385H|DOCK9_uc001vnr.2_Missense_Mutation_p.D467H|DOCK9_uc010tin.1_Missense_Mutation_p.D456H|DOCK9_uc001vns.2_Missense_Mutation_p.D373H|DOCK9_uc010tio.1_Missense_Mutation_p.D493H|DOCK9_uc010tip.1_Missense_Mutation_p.D534H NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1838 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCAAATTTATCCGAGTACAGT 0.373 NaN 0 0 0 0.008291 0 9 39 FBN1 2200 broad.mit.edu 37 15 48779383 48779383 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:48779383C>T uc001zwx.1 - 29 3806 c.3478G>A c.(3478-3480)GAG>AAG p.E1160K NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1160 EGF-like 18; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCACTCAGCTCACATTCATTG 0.468 NaN 0 0 0 0.008291 0 7 63 FBN1 2200 broad.mit.edu 37 15 48888548 48888548 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:48888548C>G uc001zwx.1 - 6 798 c.470G>C c.(469-471)GGA>GCA p.G157A NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 157 EGF-like 3. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACACCTTCCTCCATTGAGACA 0.418 NaN 0 0 0 0.009096 0 3 60 USP8 9101 broad.mit.edu 37 15 50782585 50782585 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:50782585G>C uc001zym.3 + 15 2597 c.2097G>C c.(2095-2097)AAG>AAC p.K699N USP8_uc001zyl.3_Missense_Mutation_p.K699N|USP8_uc001zyn.3_Missense_Mutation_p.K699N|USP8_uc010ufh.1_Missense_Mutation_p.K593N|USP8_uc001zyp.3_5'Flank NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 699 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) ATAAAGCCAAGCCACAGATTC 0.498 NaN 0 0 0 0.010504 0 17 64 SNX22 79856 broad.mit.edu 37 15 64446167 64446167 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:64446167C>T uc002anc.1 + 6 485 c.426C>T c.(424-426)TTC>TTT p.F142F SNX22_uc002amz.1_Silent_p.F114F|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA NM_024798 NP_079074 Q96L94 SNX22_HUMAN sorting nexin 22 142 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding 0 TCCTGAGCTTCCATGTGGATC 0.612 NaN OREG0023180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.011902 0 34 176 MTFMT 123263 broad.mit.edu 37 15 65316099 65316099 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:65316099C>T uc002aof.3 - 3 479 c.453G>A c.(451-453)CCG>CCA p.P151P NM_139242 NP_640335 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 151 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity ovary(2) 2 Tetrahydrofolic acid(DB00116) CACGCCATCTCGGGAGGCAAC 0.438 NaN 0 0 0 0.014758 0 5 13 CCDC33 80125 broad.mit.edu 37 15 74554886 74554886 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:74554886G>C uc002axo.2 + 3 685 c.291G>C c.(289-291)GAG>GAC p.E97D NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 300 C2. protein binding ovary(3)|skin(2) 5 TGAATGTGGAGATCCAAGCTG 0.572 NaN 0 0 0 0.010729 0 10 12 FAH 2184 broad.mit.edu 37 15 80465390 80465390 + Silent SNP C C T rs145851627 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:80465390C>T uc002bfj.2 + 10 823 c.741C>T c.(739-741)CTC>CTT p.L247L FAH_uc002bfk.1_Silent_p.L247L|FAH_uc002bfm.1_Silent_p.L247L|FAH_uc002bfn.1_Silent_p.L177L NM_000137 NP_000128 P16930 FAAA_HUMAN fumarylacetoacetase 247 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding 0 ATGTCCCTCTCGGGCCATTCC 0.572 NaN Tyrosinemia_type_1 OREG0023354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.016522 0 21 88 IGF1R 3480 broad.mit.edu 37 15 99452048 99452048 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:99452048G>A uc002bul.2 + 6 1432 c.1382G>A c.(1381-1383)CGC>CAC p.R461H IGF1R_uc010urq.1_Missense_Mutation_p.R461H|IGF1R_uc010bon.2_Missense_Mutation_p.R461H|IGF1R_uc010urr.1_5'Flank NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 461 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GAAATTTACCGCATGGAGGAA 0.498 NaN 0 0 0 0.014758 0 3 25 SRRM2 23524 broad.mit.edu 37 16 2813668 2813668 + Missense_Mutation SNP G G A rs150618420 by1000genomes TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:2813668G>A uc002crk.2 + 11 3688 c.3139G>A c.(3139-3141)GAG>AAG p.E1047K SRRM2_uc002crj.1_Missense_Mutation_p.E951K|SRRM2_uc002crl.1_Missense_Mutation_p.E1047K|SRRM2_uc010bsu.1_Missense_Mutation_p.E951K NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1047 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 ACCACCAGGCGAGAGCTATTT 0.468 NaN 0 0 0 0.024245 0 12 83 MMP25 64386 broad.mit.edu 37 16 3100442 3100442 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:3100442G>A uc002cth.2 + 4 793 c.556G>A c.(556-558)GAC>AAC p.D186N MMP25_uc002cti.1_Missense_Mutation_p.D122N NM_022468 NP_071913 Q9NPA2 MMP25_HUMAN matrix metalloproteinase 25 preproprotein 186 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 CTACCCCTTCGACGGGTTGGG 0.622 NaN 0 0 0 0.007835 0 34 62 RBBP6 5930 broad.mit.edu 37 16 24583041 24583041 + Missense_Mutation SNP A A G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:24583041A>G uc002dmh.2 + 18 5694 c.4654A>G c.(4654-4656)AAA>GAA p.K1552E RBBP6_uc002dmi.2_Missense_Mutation_p.K1518E|RBBP6_uc010bxr.2_Missense_Mutation_p.K712E|RBBP6_uc002dmk.2_Missense_Mutation_p.K1385E NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1552 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) TTATGATACTAAACGGCCAAA 0.368 NaN 0 0 0 0.024245 0 13 33 HS3ST4 9951 broad.mit.edu 37 16 26147147 26147147 + Missense_Mutation SNP A A C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:26147147A>C uc002dof.2 + 2 1341 c.949A>C c.(949-951)AAA>CAA p.K317Q NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN heparan sulfate D-glucosaminyl 317 Lumenal (Potential). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity large_intestine(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.0988) GCTGGCCTTCAAAAACCGGAC 0.547 NaN 0 0 0 0.01441 0 72 170 PHKG2 5261 broad.mit.edu 37 16 30764566 30764566 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:30764566G>A uc002dzk.1 + 5 433 c.340G>A c.(340-342)GAG>AAG p.E114K PHKG2_uc002dzi.1_Missense_Mutation_p.E114K|PHKG2_uc002dzj.1_Missense_Mutation_p.E12K NM_000294 NP_000285 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 114 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1) 1 Colorectal(24;0.198) GCGGAAGGGAGAGCTGTTTGA 0.552 NaN 0 0 0 0.028581 0 13 39 ZNF646 9726 broad.mit.edu 37 16 31090265 31090265 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:31090265G>A uc002eap.2 + 2 2909 c.2620G>A c.(2620-2622)GAG>AAG p.E874K NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 874 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 TAGGCCTGGGGAGGCGACCTC 0.647 NaN 0 0 0 0.015359 0 33 87 ZNF646 9726 broad.mit.edu 37 16 31090309 31090309 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:31090309G>C uc002eap.2 + 2 2953 c.2664G>C c.(2662-2664)ATG>ATC p.M888I NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 888 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 TCTGTGGCATGATCTTCCCTG 0.637 NaN 0 0 0 0.00499 0 16 59 NOB1 28987 broad.mit.edu 37 16 69776286 69776286 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:69776286C>T uc002exs.2 - 9 1204 c.1188G>A c.(1186-1188)CGG>CGA p.R396R NM_014062 NP_054781 Q9ULX3 NOB1_HUMAN nin one binding protein 396 nucleus metal ion binding|protein binding 0 TTAAGCGTCTCCGCCCAGCTC 0.587 NaN 0 0 0 0.020292 0 11 37 PDPR 55066 broad.mit.edu 37 16 70190728 70190728 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:70190728C>T uc002eyf.1 + 19 3543 c.2586C>T c.(2584-2586)TTC>TTT p.F862F CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Silent_p.F762F|PDPR_uc002eyg.1_Silent_p.F529F|PDPR_uc002eyh.2_Silent_p.F207F|PDPR_uc010vls.1_Silent_p.F207F NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 862 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) CCTCCCTCTTCACCCAGAAGC 0.562 NaN 0 0 0 0.021553 0 4 30 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:7578275G>A uc002gim.2 - 6 768 c.574C>T c.(574-576)CAG>TAG p.Q192* TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 192 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; 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.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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) ATAAGATGCTGAGGAGGGGCC 0.557 111 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) 0 0 0 0.006122 0 15 32 TRPV2 51393 broad.mit.edu 37 17 16326850 16326850 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:16326850C>A uc002gpy.2 + 5 1060 c.693C>A c.(691-693)AAC>AAA p.N231K TRPV2_uc002gpz.2_Intron NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, 231 Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 4. sensory perception integral to plasma membrane|melanosome calcium channel activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TCCTGGAGAACCCACACCAGC 0.607 NaN 1 0 7.53189e-24 0.007835 8.28168e-24 37 56 NF1 4763 broad.mit.edu 37 17 29701127 29701127 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:29701127G>C uc002hgg.2 + 58 8807 c.8474G>C c.(8473-8475)AGA>ACA p.R2825T NF1_uc002hgh.2_Missense_Mutation_p.R2804T|NF1_uc010cso.2_Missense_Mutation_p.R1031T|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2825 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) CAGAAGCAAAGAAGCGCTGGC 0.468 NaN 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) 0 0 0 0.010729 0 9 49 LIG3 3980 broad.mit.edu 37 17 33318055 33318055 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:33318055G>C uc002hik.1 + 5 1071 c.963G>C c.(961-963)TTG>TTC p.L321F LIG3_uc002hij.2_Missense_Mutation_p.L321F|LIG3_uc010cth.1_Missense_Mutation_p.L330F NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 321 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) TTTACAACTTGAACGATAAGC 0.488 NaN Other_BER_factors 0 0 0 0.027894 0 35 66 SLFN5 162394 broad.mit.edu 37 17 33586688 33586688 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:33586688G>C uc002hjf.3 + 2 1096 c.979G>C c.(979-981)GAA>CAA p.E327Q SLFN5_uc002hje.2_Missense_Mutation_p.E327Q|SLFN5_uc010wcg.1_Missense_Mutation_p.E327Q NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN schlafen family member 5 327 cell differentiation ATP binding ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) GCCCACAAGAGAATGGACTGC 0.517 NaN 0 0 0 0.009535 0 29 107 HSD17B1 3292 broad.mit.edu 37 17 40705230 40705230 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:40705230G>A uc002hzw.2 + 2 1154 c.186G>A c.(184-186)ACG>ACA p.T62T HSD17B1_uc002hzx.2_Silent_p.T62T|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Silent_p.N117N|HSD17B1_uc010cyi.2_Silent_p.T93T NM_000413 NP_000404 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 62 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity 0 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) CCCTGGAGACGTTGCAGCTGG 0.647 NaN 0 0 0 0.01441 0 37 77 HEXIM1 10614 broad.mit.edu 37 17 43226833 43226833 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:43226833G>C uc002iig.2 + 1 2150 c.276G>C c.(274-276)CAG>CAC p.Q92H NM_006460 NP_006451 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 92 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding ovary(1) 1 AGAAGGGCCAGAATGGGGACG 0.682 NaN OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 4 29 HEXIM1 10614 broad.mit.edu 37 17 43227260 43227260 + Missense_Mutation SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:43227260G>T uc002iig.2 + 1 2577 c.703G>T c.(703-705)GAC>TAC p.D235Y NM_006460 NP_006451 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 235 Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding ovary(1) 1 CAAATCCGACGACACCAGCGA 0.612 NaN 1 0 1.37522e-17 0.007413 1.48524e-17 14 73 LRRC37A2 474170 broad.mit.edu 37 17 44626216 44626216 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:44626216C>T uc002ikn.1 + 9 3714 c.3711C>T c.(3709-3711)TTC>TTT p.F1237F ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Silent_p.F198F|LRRC37A2_uc010dax.1_Silent_p.F167F NM_001006607 NP_001006608 A6NM11 L37A2_HUMAN c114 SLIT-like testicular protein precursor 1237 Extracellular (Potential). integral to membrane 0 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) AGCCTTCCTTCACCCAAGAGC 0.592 NaN 0 0 0 0.007413 0 15 129 DLX4 1748 broad.mit.edu 37 17 48047109 48047109 + Missense_Mutation SNP G G A rs145736583 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:48047109G>A uc002ipv.2 + 1 548 c.277G>A c.(277-279)GAG>AAG p.E93K NM_138281 NP_612138 Q92988 DLX4_HUMAN distal-less homeobox 4 isoform a 93 MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TCAGGAACTCGAGGCAGGTAA 0.667 NaN 0 0 0 0.020292 0 14 108 TOB1 10140 broad.mit.edu 37 17 48941096 48941096 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:48941096C>T uc002isw.2 - 1 318 c.283G>A c.(283-285)GAC>AAC p.D95N TOB1_uc010wmy.1_Missense_Mutation_p.D95N|TOB1_uc010wmz.1_Missense_Mutation_p.D95N NM_005749 NP_005740 P50616 TOB1_HUMAN transducer of ERBB2, 1 95 negative regulation of cell proliferation SH3/SH2 adaptor activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TCAAATGGGTCGATCCAAACA 0.428 NaN OREG0024576 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004482 0 7 73 AKAP1 8165 broad.mit.edu 37 17 55183156 55183156 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:55183156C>T uc002iux.2 + 2 562 c.331C>T c.(331-333)CTT>TTT p.L111F AKAP1_uc010wnl.1_Missense_Mutation_p.L111F|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.L111F NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor 111 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) CTCGGGCATTCTTCCTAACAC 0.547 NaN 0 0 0 0.015359 0 34 55 VEZF1 7716 broad.mit.edu 37 17 56056663 56056663 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:56056663C>T uc002ivf.1 - 5 1131 c.988G>A c.(988-990)GAA>AAA p.E330K VEZF1_uc010dcn.1_Missense_Mutation_p.E180K NM_007146 NP_009077 Q14119 VEZF1_HUMAN zinc finger protein 161 330 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 CTGGTCTCTTCACTCATGCAT 0.284 NaN 0 0 0 0.027356 0 25 49 NUP85 79902 broad.mit.edu 37 17 73231253 73231253 + Nonsense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:73231253C>G uc002jng.1 + 18 2086 c.1826C>G c.(1825-1827)TCA>TGA p.S609* NUP85_uc010dgd.1_Nonsense_Mutation_p.S564*|NUP85_uc010wrv.1_Nonsense_Mutation_p.S563*|NUP85_uc002jnh.1_Nonsense_Mutation_p.S212* NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 609 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) GACTTGACGTCAAGAAGACCT 0.522 NaN 0 0 0 0.020292 0 8 75 ITGB4 3691 broad.mit.edu 37 17 73738710 73738710 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:73738710G>A uc002jpg.2 + 25 3017 c.2830G>A c.(2830-2832)GTA>ATA p.V944I ITGB4_uc002jph.2_Missense_Mutation_p.V944I|ITGB4_uc002jpi.3_Missense_Mutation_p.V944I|ITGB4_uc010dgp.1_Missense_Mutation_p.R956H|ITGB4_uc002jpj.2_Missense_Mutation_p.V944I NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 944 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTGGTGGACGTACGGGTGCC 0.692 NaN 0 0 0 0.021553 0 4 120 DNAH17 8632 broad.mit.edu 37 17 76547693 76547693 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:76547693C>T uc002jvv.1 - 12 1527 c.1421G>A c.(1420-1422)CGA>CAA p.R474Q RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAGAATTTCTCGCACCTCTTG 0.338 NaN 0 0 0 0.006214 0 7 76 SLC38A10 124565 broad.mit.edu 37 17 79256117 79256117 + Missense_Mutation SNP G G A rs141053452 byFrequency TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:79256117G>A uc002jzz.1 - 5 748 c.373C>T c.(373-375)CGC>TGC p.R125C SLC38A10_uc002jzy.1_Missense_Mutation_p.R43C|SLC38A10_uc002kab.2_Missense_Mutation_p.R125C NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 125 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) AGGAACATGCGGAAGGTGCCG 0.682 NaN 0 0 0 0.006214 0 9 16 PHLPP1 23239 broad.mit.edu 37 18 60642723 60642723 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr18:60642723G>C uc002lis.2 + 17 2491 c.2313G>C c.(2311-2313)TTG>TTC p.L771F NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1283 PP2C-like. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 CCTTCACCTTGACCTCTGCTA 0.507 NaN 0 0 0 0.009535 0 27 91 KDM4B 23030 broad.mit.edu 37 19 5135468 5135468 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:5135468C>G uc002mbq.3 + 15 2430 c.2204C>G c.(2203-2205)TCT>TGT p.S735C KDM4B_uc010xim.1_Missense_Mutation_p.S769C|KDM4B_uc002mbr.3_Missense_Mutation_p.S493C NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 735 PHD-type 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 TGCTTCACCTCTGGCGGTGAG 0.642 NaN 0 0 0 0.016723 0 13 37 PTPRS 5802 broad.mit.edu 37 19 5244216 5244216 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:5244216G>A uc002mbv.2 - 11 1500 c.1266C>T c.(1264-1266)GGC>GGT p.G422G PTPRS_uc002mbu.1_Silent_p.G409G|PTPRS_uc010xin.1_Silent_p.G409G|PTPRS_uc002mbw.2_Silent_p.G409G|PTPRS_uc002mbx.2_Silent_p.G413G|PTPRS_uc002mby.2_Silent_p.G409G NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 422 Extracellular (Potential). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGGCCTGCTCGCCTGTGCGGG 0.711 NaN 0 0 0 0.014323 0 21 86 MUC16 94025 broad.mit.edu 37 19 9077046 9077046 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:9077046C>G uc002mkp.2 - 3 10604 c.10400G>C c.(10399-10401)GGA>GCA p.G3467A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3468 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 GCCTTGGTCTCCAGAGGGCAG 0.507 NaN 0 0 0 0.001984 0 5 24 NCAN 1463 broad.mit.edu 37 19 19339025 19339025 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:19339025G>A uc002nlz.2 + 8 2695 c.2596G>A c.(2596-2598)GAT>AAT p.D866N NCAN_uc010ecc.1_Missense_Mutation_p.D430N NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 866 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GGTGGCCCTGGATACAAGCAT 0.597 NaN 0 0 0 0.007291 0 22 96 ZNF257 113835 broad.mit.edu 37 19 22271465 22271465 + Nonsense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:22271465C>T uc010ecx.2 + 4 1082 c.913C>T c.(913-915)CAA>TAA p.Q305* ZNF257_uc010ecy.2_Nonsense_Mutation_p.Q273* NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 305 C2H2-type 5; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) TACCCTTACTCAACATAAGAG 0.393 NaN 0 0 0 0.006214 0 9 29 PSG3 5671 broad.mit.edu 37 19 43236936 43236936 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:43236936G>A uc002oue.2 - 3 841 c.709C>T c.(709-711)CCG>TCG p.P237S PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.P259S NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 237 defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) AGATACTCACGGAGGAGATTC 0.542 NaN 0 0 0 0.01441 0 141 277 CCDC61 729440 broad.mit.edu 37 19 46509948 46509948 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:46509948C>G uc002pdw.2 + 5 534 c.534C>G c.(532-534)ATC>ATG p.I178M NM_001080402 NP_001073871 coiled-coil domain containing 61 ovary(1) 1 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) GCTACCTGATCCTCATCTACT 0.652 NaN 0 0 0 0.01441 0 58 110 GRIN2D 2906 broad.mit.edu 37 19 48945175 48945175 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:48945175G>A uc002pjc.3 + 11 2490 c.2402G>A c.(2401-2403)CGG>CAG p.R801Q GRIN2D_uc010elx.2_Missense_Mutation_p.R36Q NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 801 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CGCTGGAAGCGGCCCATCGAC 0.627 NaN 0 0 0 0.009096 0 3 37 C2orf44 80304 broad.mit.edu 37 2 24260579 24260579 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:24260579G>C uc002rep.2 - 2 1917 c.1786C>G c.(1786-1788)CAA>GAA p.Q596E C2orf44_uc010eya.2_Missense_Mutation_p.Q596E NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 596 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAAGATCTTGAGAGAGTGGA 0.403 NaN 0 0 0 0.010771 0 34 91 SPTBN1 6711 broad.mit.edu 37 2 54855387 54855387 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:54855387G>A uc002rxu.2 + 13 2047 c.1798G>A c.(1798-1800)GGT>AGT p.G600S SPTBN1_uc002rxv.1_Missense_Mutation_p.G600S|SPTBN1_uc002rxx.2_Missense_Mutation_p.G587S NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 600 Spectrin 3. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) AGACGGGGAAGGTAAGGATGG 0.507 NaN 0 0 0 0.009096 0 3 47 CCDC88A 55704 broad.mit.edu 37 2 55522809 55522809 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:55522809C>G uc002ryv.2 - 31 6314 c.5472G>C c.(5470-5472)TTG>TTC p.L1824F CCDC88A_uc010yoz.1_Missense_Mutation_p.L1797F|CCDC88A_uc010ypa.1_Missense_Mutation_p.L1750F|CCDC88A_uc002ryt.2_Missense_Mutation_p.L115F|CCDC88A_uc010fbw.2_Missense_Mutation_p.L326F|CCDC88A_uc002ryu.2_Missense_Mutation_p.L1079F|CCDC88A_uc002rys.2_Missense_Mutation_p.L782F|CCDC88A_uc002ryw.2_Missense_Mutation_p.L1108F|CCDC88A_uc010fby.1_Missense_Mutation_p.L676F NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1825 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TGTCCTTGGTCAAAAAATCAT 0.458 NaN 0 0 0 0.01441 0 43 147 FBXO48 554251 broad.mit.edu 37 2 68692016 68692016 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:68692016G>C uc002seo.2 - 3 670 c.262C>G c.(262-264)CGA>GGA p.R88G APLF_uc010fdf.2_5'Flank|APLF_uc002sep.2_5'Flank NM_001024680 NP_001019851 Q5FWF7 FBX48_HUMAN F-box protein 48 88 0 ATTTCTCTTCGGCACACAGCT 0.428 NaN 0 0 0 0.00632 0 23 140 GPR45 11250 broad.mit.edu 37 2 105858447 105858447 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:105858447G>A uc002tco.1 + 1 248 c.132G>A c.(130-132)ATG>ATA p.M44I NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 44 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 TGCTGCTGATGACCGTGGTGG 0.617 NaN 0 0 0 0.01441 0 74 193 FMNL2 114793 broad.mit.edu 37 2 153483060 153483060 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:153483060G>C uc002tye.2 + 17 2351 c.1984G>C c.(1984-1986)GAG>CAG p.E662Q FMNL2_uc010fob.2_Missense_Mutation_p.E118Q|FMNL2_uc002tyf.2_Missense_Mutation_p.E111Q NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN formin-like 2 662 FH2. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|ovary(1) 3 GGATGAATTTGAGGAAATATT 0.358 NaN 0 0 0 0.014758 0 5 9 AGPS 8540 broad.mit.edu 37 2 178402841 178402841 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:178402841C>G uc002ull.2 + 20 1942 c.1895C>G c.(1894-1896)TCT>TGT p.S632C AGPS_uc010zfb.1_Missense_Mutation_p.S542C NM_003659 NP_003650 O00116 ADAS_HUMAN alkyldihydroxyacetone phosphate synthase 632 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) GAAAGTATCTCTGATGTCGGC 0.378 NaN 0 0 0 0.00632 0 25 64 TTN 7273 broad.mit.edu 37 2 179436844 179436844 + Missense_Mutation SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:179436844G>T uc010zfg.1 - 275 66535 c.66311C>A c.(66310-66312)ACT>AAT p.T22104N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T15799N|TTN_uc010zfi.1_Missense_Mutation_p.T15732N|TTN_uc010zfj.1_Missense_Mutation_p.T15607N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23031 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) AGTGGCTTCAGTGACCTTGAC 0.478 NaN 1 0 1.02788e-11 0.00499 1.08598e-11 13 22 WDR75 84128 broad.mit.edu 37 2 190334854 190334854 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:190334854C>G uc002uql.1 + 17 1932 c.1872C>G c.(1870-1872)ATC>ATG p.I624M WDR75_uc002uqm.1_Missense_Mutation_p.I560M|WDR75_uc002uqn.1_Missense_Mutation_p.I402M|WDR75_uc002uqo.1_Missense_Mutation_p.I402M NM_032168 NP_115544 Q8IWA0 WDR75_HUMAN WD repeat domain 75 624 nucleolus ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) AAAAGGGTATCTCCAGAGAGA 0.403 NaN 0 0 0 0.01441 0 47 87 CCDC150 284992 broad.mit.edu 37 2 197590756 197590756 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:197590756C>A uc002utp.1 + 22 2624 c.2489C>A c.(2488-2490)GCT>GAT p.A830D CCDC150_uc010zgs.1_Missense_Mutation_p.A477D|CCDC150_uc010zgt.1_Missense_Mutation_p.A247D|CCDC150_uc002utq.1_Missense_Mutation_p.A145D|CCDC150_uc002utr.1_Missense_Mutation_p.A145D NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 830 Potential. 0 CGCATAGAAGCTCTAAGAAAG 0.423 NaN 1 0 1.06961e-07 0.00308 1.11552e-07 7 16 PARD3B 117583 broad.mit.edu 37 2 205983760 205983760 + Missense_Mutation SNP A A C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:205983760A>C uc002var.1 + 7 1003 c.796A>C c.(796-798)ACC>CCC p.T266P PARD3B_uc010fub.1_Missense_Mutation_p.T266P|PARD3B_uc002vao.1_Missense_Mutation_p.T266P|PARD3B_uc002vap.1_Missense_Mutation_p.T266P|PARD3B_uc002vaq.1_Missense_Mutation_p.T266P NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 266 PDZ 1. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CGTAGACAAAACCTTTGCTCA 0.363 NaN 0 0 0 0.010504 0 17 65 IDH1 3417 broad.mit.edu 37 2 209104705 209104705 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:209104705C>T uc002vcs.2 - 8 1119 c.873G>A c.(871-873)ATG>ATA p.M291I IDH1_uc002vct.2_Missense_Mutation_p.M291I|IDH1_uc002vcu.2_Missense_Mutation_p.M291I NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 291 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) GCACGCTGGTCATCATGCCGA 0.527 NaN Mis gliobastoma 0 0 0 0.007413 0 15 60 SPEG 10290 broad.mit.edu 37 2 220309874 220309874 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:220309874C>G uc010fwg.2 + 3 806 c.806C>G c.(805-807)TCT>TGT p.S269C SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Intron|SPEG_uc002vln.1_5'UTR NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 269 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CGGGCGCTCTCTATCCACGTG 0.612 NaN 0 0 0 0.004672 0 3 8 MFF 56947 broad.mit.edu 37 2 228194464 228194464 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:228194464G>A uc002vos.2 + 3 421 c.3G>A c.(1-3)ATG>ATA p.M1I MFF_uc002vot.2_Intron|MFF_uc002vou.2_Missense_Mutation_p.M1I|MFF_uc002vov.2_Intron|MFF_uc002vow.2_Intron|MFF_uc002vox.2_Intron|MFF_uc002voy.2_Missense_Mutation_p.M1I|MFF_uc002voz.2_Intron NM_020194 NP_064579 Q9GZY8 MFF_HUMAN mitochondrial fission factor 1 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane large_intestine(1) 1 GTATTTAAATGAGTAAAGGAA 0.343 NaN 0 0 0 0.012319 0 17 53 THAP4 51078 broad.mit.edu 37 2 242572898 242572898 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:242572898C>T uc002wbt.2 - 2 897 c.674G>A c.(673-675)GGA>GAA p.G225E NM_015963 NP_057047 Q8WY91 THAP4_HUMAN THAP domain containing 4 isoform 1 225 DNA binding|metal ion binding 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) CGCCCCAGATCCTGGGGGCGT 0.557 NaN 0 0 0 0.008361 0 28 63 C20orf96 140680 broad.mit.edu 37 20 259903 259903 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr20:259903G>A uc002wde.1 - 5 514 c.375C>T c.(373-375)CTC>CTT p.L125L C20orf96_uc002wdc.2_Silent_p.L72L|C20orf96_uc002wdd.2_Silent_p.L90L|C20orf96_uc010zpi.1_Silent_p.L72L|C20orf96_uc010zpj.1_Silent_p.L90L|C20orf96_uc010zpk.1_Silent_p.L63L NM_153269 NP_695001 Q9NUD7 CT096_HUMAN hypothetical protein LOC140680 125 Potential. 0 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) GCTCCCGGTTGAGCTTGCTGA 0.672 NaN 0 0 0 0.027356 0 23 187 SLC32A1 140679 broad.mit.edu 37 20 37357147 37357147 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr20:37357147C>T uc002xjc.2 + 2 1706 c.1443C>T c.(1441-1443)CTC>CTT p.L481L NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 481 Helical; (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGCGCCTGCTCTGGCGCAAGC 0.647 NaN 0 0 0 0.021553 0 5 70 CDH26 60437 broad.mit.edu 37 20 58545159 58545159 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr20:58545159G>A uc002ybe.2 + 3 449 c.149G>A c.(148-150)CGG>CAG p.R50Q CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 50 Extracellular (Potential).|Cadherin 1. 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) CAGCCTCTACGGCGATCCAAG 0.498 NaN 0 0 0 0.01441 0 42 98 SFRS15 57466 broad.mit.edu 37 21 33043774 33043774 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr21:33043774C>T uc002ypd.2 - 20 3808 c.3382G>A c.(3382-3384)GAG>AAG p.E1128K SFRS15_uc002ype.2_Missense_Mutation_p.E1106K|SFRS15_uc010glu.2_Missense_Mutation_p.E1113K NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 1128 nucleus nucleotide binding|RNA binding 0 GAGGTAGCCTCAGCAGGTAAC 0.498 NaN 0 0 0 0.028581 0 12 36 DSCAM 1826 broad.mit.edu 37 21 41450881 41450881 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr21:41450881C>T uc002yyq.1 - 26 4896 c.4444G>A c.(4444-4446)GAG>AAG p.E1482K DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1482 Extracellular (Potential).|Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCAAACAGCTCCTGCTCCTTT 0.582 NaN 0 0 0 0.007291 0 19 47 NIPSNAP1 8508 broad.mit.edu 37 22 29957498 29957498 + Silent SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr22:29957498G>C uc003afx.3 - 6 649 c.576C>G c.(574-576)CTC>CTG p.L192L NIPSNAP1_uc011akp.1_Silent_p.L172L NM_003634 NP_003625 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 192 p.?(1) skin(1) 1 GAGGCACCTTGAGCTTGTATG 0.577 NaN 0 0 0 0.01441 0 44 83 GATSL3 652968 broad.mit.edu 37 22 30682066 30682066 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr22:30682066C>T uc003ahd.2 - 7 895 c.765G>A c.(763-765)CTG>CTA p.L255L GATSL3_uc003ahc.2_Silent_p.L217L|GATSL3_uc003ahe.2_Silent_p.L218L|GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Silent_p.L390L NM_001037666 NP_001032755 Q8WTX7 GATL3_HUMAN GATS protein-like 3 255 breast(1) 1 AGGAGCTGGTCAGCAGGAGGT 0.672 NaN 0 0 0 0.021553 0 4 21 DEPDC5 9681 broad.mit.edu 37 22 32242914 32242914 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr22:32242914C>T uc003als.2 + 31 3231 c.3089C>T c.(3088-3090)TCA>TTA p.S1030L DEPDC5_uc011als.1_Missense_Mutation_p.S961L|DEPDC5_uc011alu.1_Missense_Mutation_p.S1039L|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.S1030L|DEPDC5_uc003alu.2_Missense_Mutation_p.S479L|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.S360L|DEPDC5_uc003alw.2_Missense_Mutation_p.S328L|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Missense_Mutation_p.S34L NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1030 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 AAGGGAACCTCAGCTCTCTCT 0.552 NaN 0 0 0 0.028581 0 14 68 ANKRD54 129138 broad.mit.edu 37 22 38234561 38234561 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr22:38234561C>T uc003auc.2 - 3 479 c.421G>A c.(421-423)GAC>AAC p.D141N ANKRD54_uc003aud.2_Missense_Mutation_p.D18N NM_138797 NP_620152 Q6NXT1 ANR54_HUMAN ankyrin repeat domain 54 141 0 Melanoma(58;0.045) CGGCCCTTGTCATCAGCTGCA 0.577 NaN 0 0 0 0.010729 0 9 23 PIM3 415116 broad.mit.edu 37 22 50356727 50356727 + Silent SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr22:50356727C>G uc003bjb.2 + 6 1386 c.933C>G c.(931-933)CTC>CTG p.L311L PIM3_uc011arj.1_Silent_p.L74L NM_001001852 NP_001001852 Q86V86 PIM3_HUMAN serine/threonine protein kinase pim-3 311 cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity 0 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) TGTGCACCCTCGACCCTGATG 0.677 NaN 0 0 0 0.00308 0 7 22 PLXNB2 23654 broad.mit.edu 37 22 50714172 50714172 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr22:50714172C>G uc003bkv.3 - 37 5584 c.5478G>C c.(5476-5478)CAG>CAC p.Q1826H PLXNB2_uc003bkt.1_Missense_Mutation_p.Q618H|PLXNB2_uc003bku.1_Missense_Mutation_p.Q811H NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1826 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGCGGCAATCTGCTGCAGGC 0.597 NaN OREG0026679 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013537 0 10 55 ATP2B2 491 broad.mit.edu 37 3 10401790 10401790 + Silent SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:10401790G>C uc003bvt.2 - 13 2116 c.1677C>G c.(1675-1677)GGC>GGG p.G559G ATP2B2_uc003bvv.2_Silent_p.G514G|ATP2B2_uc003bvw.2_Silent_p.G514G|ATP2B2_uc010hdo.2_Silent_p.G264G NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 559 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 GAGGCAGGGCGCCCTCCTTCT 0.687 NaN 0 0 0 0.00874 0 30 53 ULK4 54986 broad.mit.edu 37 3 41961238 41961238 + Missense_Mutation SNP A A G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:41961238A>G uc003ckv.3 - 6 815 c.614T>C c.(613-615)TTG>TCG p.L205S ULK4_uc003ckw.2_Missense_Mutation_p.L205S|ULK4_uc003ckx.1_Missense_Mutation_p.L205S NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 205 Protein kinase. ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) CAGACAGCCCAAAGACCAGAG 0.413 NaN 0 0 0 0.019004 0 26 83 LTF 4057 broad.mit.edu 37 3 46497843 46497843 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:46497843C>T uc003cpq.2 - 3 291 c.253G>A c.(253-255)GAG>AAG p.E85K LTF_uc003fzr.2_Missense_Mutation_p.E41K|LTF_uc010hjh.2_Missense_Mutation_p.E85K|LTF_uc003cpr.2_Missense_Mutation_p.E72K NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 85 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) AGGCCTGCCTCGTATATGAAA 0.577 NaN 0 0 0 0.019004 0 25 84 PLXNB1 5364 broad.mit.edu 37 3 48465275 48465275 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:48465275G>A uc003csw.2 - 3 1016 c.746C>T c.(745-747)TCT>TTT p.S249F PLXNB1_uc003csu.2_Missense_Mutation_p.S249F|PLXNB1_uc003csx.2_Missense_Mutation_p.S249F|PLXNB1_uc010hjx.1_RNA NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 249 Extracellular (Potential).|Sema. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACACACTCGAGATACATAGGC 0.612 NaN 0 0 0 0.027894 0 36 74 SEMA3F 6405 broad.mit.edu 37 3 50220147 50220147 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:50220147C>T uc003cyj.2 + 9 1032 c.834C>T c.(832-834)TTC>TTT p.F278F SEMA3F_uc003cyk.2_Silent_p.F247F NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 278 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) TTTACTTCTTCTTCCGTGAGC 0.627 NaN 0 0 0 0.01441 0 47 75 ADAMTS9 56999 broad.mit.edu 37 3 64536627 64536627 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:64536627G>A uc003dmg.2 - 31 4842 c.4810C>T c.(4810-4812)CGT>TGT p.R1604C ADAMTS9_uc011bfo.1_Missense_Mutation_p.R1576C|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R1433C|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R515C NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1604 TSP type-1 13. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CAGCTTTCACGGTCCACCGGC 0.572 NaN 0 0 0 0.01441 0 111 113 ADAMTS9 56999 broad.mit.edu 37 3 64599095 64599095 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:64599095C>T uc003dmg.2 - 22 3312 c.3280G>A c.(3280-3282)GAG>AAG p.E1094K ADAMTS9_uc011bfo.1_Missense_Mutation_p.E1066K|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E923K|ADAMTS9_uc011bfp.1_Missense_Mutation_p.E5K NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1094 TSP type-1 5. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GGCTTGGTCTCAGGGTCACAC 0.488 NaN 0 0 0 0.010504 0 17 102 FAM162A 26355 broad.mit.edu 37 3 122123148 122123148 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:122123148G>A uc003eez.2 + 3 291 c.201G>A c.(199-201)CAG>CAA p.Q67Q FAM162A_uc011bjq.1_Silent_p.Q67Q NM_014367 NP_055182 Q96A26 F162A_HUMAN growth and transformation-dependent protein 67 integral to membrane ovary(1) 1 CGGATTGGCAGAAAAAGATCC 0.373 NaN 0 0 0 0.008291 0 9 20 UROC1 131669 broad.mit.edu 37 3 126202223 126202223 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:126202223C>G uc003eiz.1 - 19 1911 c.1879G>C c.(1879-1881)GTC>CTC p.V627L UROC1_uc010hsi.1_Missense_Mutation_p.V687L NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 627 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) CCATTGGAGACATCCCAGCTG 0.617 NaN 0 0 0 0.021553 0 6 43 RAB43 339122 broad.mit.edu 37 3 128853792 128853792 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:128853792G>A uc003elo.1 - 8 635 c.424C>T c.(424-426)CCT>TCT p.P142S ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Missense_Mutation_p.P142S|ISY1_uc010hta.1_Missense_Mutation_p.P164S NM_020701 NP_065752 Q86YS6 RAB43_HUMAN ISY1 splicing factor homolog Error:Variant_position_missing_in_Q86YS6_after_alignment protein transport|small GTPase mediated signal transduction plasma membrane GTP binding lung(1) 1 CTGGGAGGAGGAAGAGCTATA 0.453 NaN 0 0 0 0.028581 0 14 30 COL6A6 131873 broad.mit.edu 37 3 130282320 130282320 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:130282320G>A uc010htl.2 + 2 504 c.473G>A c.(472-474)GGA>GAA p.G158E NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 158 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CGGAAAGACGGAGTGAAAATC 0.498 NaN 0 0 0 0.009096 0 4 30 PPP2R3A 5523 broad.mit.edu 37 3 135720804 135720804 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:135720804C>T uc003eqv.1 + 2 1029 c.464C>T c.(463-465)TCA>TTA p.S155L PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 155 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 AATAGGAGGTCAGTTGATTTG 0.398 NaN 0 0 0 0.001984 0 6 34 CPA3 1359 broad.mit.edu 37 3 148596524 148596524 + Missense_Mutation SNP T T C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:148596524T>C uc003ewm.2 + 5 515 c.463T>C c.(463-465)TAT>CAT p.Y155H NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 155 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TAATCCACTATATGTTCTGAA 0.313 NaN 0 0 0 0.007413 0 16 17 IGSF10 285313 broad.mit.edu 37 3 151161338 151161338 + Silent SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:151161338C>G uc011bod.1 - 5 5397 c.5397G>C c.(5395-5397)GTG>GTC p.V1799V IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1799 Ig-like C2-type 4. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CGTCAACCGTCACCACAGCCT 0.512 NaN 0 0 0 0.021523 0 22 45 IGSF10 285313 broad.mit.edu 37 3 151166475 151166475 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:151166475C>G uc011bod.1 - 4 1294 c.1294G>C c.(1294-1296)GAC>CAC p.D432H NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 432 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAAATTTGGTCTTGCATTAAC 0.428 NaN 0 0 0 0.024245 0 13 22 PIK3CA 5290 broad.mit.edu 37 3 178928225 178928225 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:178928225C>G uc003fjk.2 + 9 1568 c.1411C>G c.(1411-1413)CCA>GCA p.P471A NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 471 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.P471A(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTAGGAAACTCCATGCTTAGA 0.368 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.024334 0 26 21 TPRG1 285386 broad.mit.edu 37 3 188933083 188933083 + Silent SNP G G A rs141310543 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:188933083G>A uc003frv.1 + 8 1440 c.213G>A c.(211-213)CCG>CCA p.P71P TPRG1_uc003frw.1_Silent_p.P71P NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 71 0 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CCACACAGCCGGGGGCCATTG 0.488 NaN 0 0 0 0.017118 0 25 23 CLDN1 9076 broad.mit.edu 37 3 190026071 190026071 + Missense_Mutation SNP C C G rs147881276 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:190026071C>G uc003fsh.2 - 4 851 c.631G>C c.(631-633)GTG>CTG p.V211L NM_021101 NP_066924 O95832 CLD1_HUMAN claudin 1 211 Cytoplasmic (Potential).|Interactions with TJP1, TJP2, TJP3 and INADL (By similarity). calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(1) 1 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) CTGTGTCACACGTAGTCTTTC 0.448 NaN 0 0 0 0.010818 0 22 150 SLC34A2 10568 broad.mit.edu 37 4 25664188 25664188 + Silent SNP A A G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:25664188A>G uc003grr.2 + 2 147 c.66A>G c.(64-66)GCA>GCG p.A22A SLC34A2_uc003grs.2_Silent_p.A22A|SLC34A2_uc010iev.2_Silent_p.A22A NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 22 Cytoplasmic (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) AAGGGGCCGCAGGTCAGCAGC 0.547 NaN 0 0 0 0.014758 0 3 102 N4BP2 55728 broad.mit.edu 37 4 40146258 40146258 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:40146258C>G uc003guy.3 + 16 5319 c.4981C>G c.(4981-4983)CTT>GTT p.L1661V N4BP2_uc010ifq.2_Missense_Mutation_p.L1581V|N4BP2_uc010ifr.2_Missense_Mutation_p.L1564V NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1661 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 TTAGGGTACTCTTCATGAGCA 0.428 NaN 0 0 0 0.007291 0 24 62 FRAS1 80144 broad.mit.edu 37 4 79462137 79462137 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:79462137G>A uc003hlb.2 + 74 12338 c.11898G>A c.(11896-11898)GTG>GTA p.V3966V NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3961 Cytoplasmic (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 AGAAGAACGTGAATAGACACT 0.498 NaN 0 0 0 0.00308 0 6 98 CENPE 1062 broad.mit.edu 37 4 104082321 104082321 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:104082321C>T uc003hxb.1 - 20 2143 c.2053G>A c.(2053-2055)GAT>AAT p.D685N CENPE_uc003hxc.1_Missense_Mutation_p.D660N NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 685 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTCTCCAGATCAACTTGCATT 0.313 NaN 0 0 0 0.001984 0 6 16 CENPE 1062 broad.mit.edu 37 4 104082409 104082409 + Splice_Site SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:104082409C>T uc003hxb.1 - 20 2056 c.1966_splice c.e20-1 p.K656_splice CENPE_uc003hxc.1_Splice_Site_p.K631_splice NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CAAGTTCTTTCTATTGAGAAA 0.303 NaN 0 0 0 0.009096 0 3 13 SEC24B 10427 broad.mit.edu 37 4 110415839 110415839 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:110415839C>T uc003hzk.2 + 6 1370 c.1315C>T c.(1315-1317)CCA>TCA p.P439S SEC24B_uc003hzl.2_Missense_Mutation_p.P404S|SEC24B_uc011cfp.1_Missense_Mutation_p.P470S|SEC24B_uc011cfq.1_Missense_Mutation_p.P439S|SEC24B_uc011cfr.1_Missense_Mutation_p.P404S NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 439 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TGCTTCTGCTCCAGCTCCAGC 0.488 NaN 0 0 0 0.01441 0 40 107 FAT4 79633 broad.mit.edu 37 4 126238820 126238820 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126238820C>T uc003ifj.3 + 1 1254 c.1254C>T c.(1252-1254)AGC>AGT p.S418S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 418 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CGAACCTGAGCCTAATCAAGG 0.597 NaN OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013537 0 11 27 FAT4 79633 broad.mit.edu 37 4 126238826 126238826 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126238826C>T uc003ifj.3 + 1 1260 c.1260C>T c.(1258-1260)ATC>ATT p.I420I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 420 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGAGCCTAATCAAGGTGGCCA 0.607 NaN OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.020292 0 12 29 FAT4 79633 broad.mit.edu 37 4 126239094 126239094 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239094C>G uc003ifj.3 + 1 1528 c.1528C>G c.(1528-1530)CTG>GTG p.L510V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 510 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CAATGCTAATCTGCGTTACAG 0.557 NaN OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.016522 0 19 53 FAT4 79633 broad.mit.edu 37 4 126239141 126239141 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239141C>G uc003ifj.3 + 1 1575 c.1575C>G c.(1573-1575)ATC>ATG p.I525M NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 525 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GGTTCCATATCAGTGAACATA 0.537 NaN OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.015359 0 25 71 FAT4 79633 broad.mit.edu 37 4 126239282 126239282 + Silent SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239282C>G uc003ifj.3 + 1 1716 c.1716C>G c.(1714-1716)CTC>CTG p.L572L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 572 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TAGTAACTCTCCTAGATGTGA 0.498 NaN OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008871 0 18 44 FAT4 79633 broad.mit.edu 37 4 126239473 126239473 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239473C>T uc003ifj.3 + 1 1907 c.1907C>T c.(1906-1908)CCT>CTT p.P636L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 636 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CGTCTGGATCCTGTGTCTGGG 0.567 NaN 0 0 0 0.012319 0 21 34 FAT4 79633 broad.mit.edu 37 4 126239494 126239494 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239494C>G uc003ifj.3 + 1 1928 c.1928C>G c.(1927-1929)ACT>AGT p.T643S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 643 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGGTTGAGTACTATTTCCTCC 0.552 NaN 0 0 0 0.006122 0 17 29 FAT4 79633 broad.mit.edu 37 4 126239578 126239578 + Nonsense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239578C>G uc003ifj.3 + 1 2012 c.2012C>G c.(2011-2013)TCA>TGA p.S671* NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 671 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CCCCAGTCATCAATGGCTCGC 0.488 NaN 0 0 0 0.00632 0 24 51 FAT4 79633 broad.mit.edu 37 4 126239780 126239780 + Silent SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239780C>A uc003ifj.3 + 1 2214 c.2214C>A c.(2212-2214)GTC>GTA p.V738V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 738 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GGTTTCAGGTCAATGCTCAGA 0.453 NaN 1 0 3.27435e-08 0.020292 3.4296e-08 15 39 FAT4 79633 broad.mit.edu 37 4 126240344 126240344 + Silent SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240344C>A uc003ifj.3 + 1 2778 c.2778C>A c.(2776-2778)GGC>GGA p.G926G NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 926 Cadherin 9.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTGTCAATGGCATGGTACTCT 0.473 NaN 1 0 0.000978159 0.010729 0.00101146 8 40 FAT4 79633 broad.mit.edu 37 4 126240492 126240492 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240492C>T uc003ifj.3 + 1 2926 c.2926C>T c.(2926-2928)CTC>TTC p.L976F NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 976 Cadherin 9.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGTCCCACAGCTCTCCTCTAG 0.443 NaN 0 0 0 0.014323 0 20 53 FAT4 79633 broad.mit.edu 37 4 126240499 126240499 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240499C>A uc003ifj.3 + 1 2933 c.2933C>A c.(2932-2934)TCT>TAT p.S978Y NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 978 Cadherin 9.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CAGCTCTCCTCTAGTGTCATC 0.453 NaN 1 0 4.26978e-12 0.01892 4.53081e-12 22 55 FAT4 79633 broad.mit.edu 37 4 126240563 126240563 + Silent SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240563C>G uc003ifj.3 + 1 2997 c.2997C>G c.(2995-2997)CTC>CTG p.L999L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 999 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTGACCAACTCTCTTATGAAG 0.408 NaN 0 0 0 0.010771 0 34 85 FAT4 79633 broad.mit.edu 37 4 126240606 126240606 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240606C>G uc003ifj.3 + 1 3040 c.3040C>G c.(3040-3042)CGA>GGA p.R1014G NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1014 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGTGAATTCTCGATTCTTTAA 0.383 NaN 0 0 0 0.00632 0 27 61 FAT4 79633 broad.mit.edu 37 4 126240753 126240753 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240753C>G uc003ifj.3 + 1 3187 c.3187C>G c.(3187-3189)CAA>GAA p.Q1063E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1063 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CCGTGAACTTCAAGACAGATA 0.373 NaN 0 0 0 0.01441 0 46 86 FAT4 79633 broad.mit.edu 37 4 126240826 126240826 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240826C>G uc003ifj.3 + 1 3260 c.3260C>G c.(3259-3261)ACT>AGT p.T1087S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1087 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTGAATGTTACTGTAATTTTA 0.393 NaN 0 0 0 0.013114 0 38 100 FAT4 79633 broad.mit.edu 37 4 126241103 126241103 + Silent SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126241103C>G uc003ifj.3 + 1 3537 c.3537C>G c.(3535-3537)GTC>GTG p.V1179V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1179 Cadherin 11.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCTTTACAGTCATAGCAACAG 0.428 NaN 0 0 0 0.010771 0 36 69 HSPA4L 22824 broad.mit.edu 37 4 128722997 128722997 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:128722997G>C uc003ifm.2 + 6 840 c.587G>C c.(586-588)AGA>ACA p.R196T HSPA4L_uc010iny.1_Missense_Mutation_p.R155T|HSPA4L_uc011cgr.1_Missense_Mutation_p.R163T NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 196 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 GAGAAACCAAGAAATGTAGTA 0.328 NaN 0 0 0 0.006122 0 15 13 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:146059006G>A uc003ika.3 - 21 2864 c.2726C>T c.(2725-2727)ACT>ATT p.T909I OTUD4_uc003ijz.3_Missense_Mutation_p.T908I NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 973 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463 NaN 0 0 0 0.001984 0 5 137 FGA 2243 broad.mit.edu 37 4 155506692 155506692 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:155506692C>T uc003iod.1 - 5 1947 c.1889G>A c.(1888-1890)AGA>AAA p.R630K FGA_uc003ioe.1_Missense_Mutation_p.R630K|FGA_uc003iof.1_3'UTR NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 630 By similarity.|Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) gtggatacctctgaCAGGGCG 0.239 NaN 0 0 0 0.008871 0 19 51 ODZ3 55714 broad.mit.edu 37 4 183710449 183710449 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:183710449C>T uc003ivd.1 + 24 5545 c.5508C>T c.(5506-5508)ACC>ACT p.T1836T NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1836 YD 5.|Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGCGAGGCACCACTAGCGAGA 0.512 NaN 0 0 0 0.006214 0 7 43 MARCH6 10299 broad.mit.edu 37 5 10390534 10390534 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:10390534G>C uc003jet.1 + 6 681 c.498G>C c.(496-498)CAG>CAC p.Q166H MARCH6_uc011cmu.1_Missense_Mutation_p.Q118H|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.Q61H NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 166 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 TGAGAGAGCAGATAGTCCATG 0.488 NaN 0 0 0 0.01441 0 42 143 OCLN 4950 broad.mit.edu 37 5 68805036 68805036 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:68805036C>G uc003jwu.2 + 3 555 c.119C>G c.(118-120)TCT>TGT p.S40C OCLN_uc003jwv.3_Missense_Mutation_p.S40C NM_002538 NP_002529 occludin 0 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CCAATGCTCTCTCAGCCAGCC 0.403 NaN 0 0 0 0.021022 0 36 81 ATP6AP1L 92270 broad.mit.edu 37 5 81608660 81608660 + Missense_Mutation SNP T T C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:81608660T>C uc003khv.2 + 9 1687 c.362T>C c.(361-363)ATT>ACT p.I121T ATP6AP1L_uc003khw.2_Missense_Mutation_p.I121T NM_001017971 NP_001017971 Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory 121 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 GTCACTTTTATTGATTTCCAG 0.502 NaN OREG0016689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013537 0 9 38 ARRDC3 57561 broad.mit.edu 37 5 90670966 90670966 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:90670966C>G uc003kjz.2 - 5 883 c.643G>C c.(643-645)GAG>CAG p.E215Q NM_020801 NP_065852 Q96B67 ARRD3_HUMAN arrestin domain containing 3 215 signal transduction cytoplasm protein binding ovary(1)|breast(1) 2 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GAGCAGTTCTCAATCTCAGCA 0.388 NaN 0 0 0 0.009096 0 4 33 SAR1B 51128 broad.mit.edu 37 5 133942733 133942733 + Silent SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:133942733C>G uc003kzq.2 - 8 751 c.504G>C c.(502-504)CTG>CTC p.L168L SAR1B_uc003kzr.2_Silent_p.L168L NM_001033503 NP_001028675 Q9Y6B6 SAR1B_HUMAN SAR1a gene homolog 2 168 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane GTP binding|GTPase activity|metal ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCGGGCATTCAGTTCTTTCA 0.403 NaN 0 0 0 0.007291 0 24 62 PCDHB10 56126 broad.mit.edu 37 5 140572567 140572567 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:140572567G>A uc003lix.2 + 1 616 c.442G>A c.(442-444)GAA>AAA p.E148K NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 148 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACAGCTGAAGGGACAGC 0.413 NaN 0 0 0 0.00632 0 27 42 NR3C1 2908 broad.mit.edu 37 5 142680325 142680325 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:142680325C>T uc003lmz.2 - 5 1964 c.1472G>A c.(1471-1473)CGA>CAA p.R491Q NR3C1_uc003lmy.2_Missense_Mutation_p.R492Q|NR3C1_uc003lna.2_Missense_Mutation_p.R491Q|NR3C1_uc003lnb.2_Missense_Mutation_p.R491Q|NR3C1_uc011dbk.1_Missense_Mutation_p.R94Q|NR3C1_uc003lnc.2_Missense_Mutation_p.R491Q|NR3C1_uc003lnd.2_Missense_Mutation_p.R491Q|NR3C1_uc003lne.2_Missense_Mutation_p.R491Q|NR3C1_uc003lnf.2_Missense_Mutation_p.R492Q NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 491 Hinge. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) CTTTGTTTTTCGAGCTGTGGG 0.348 NaN 0 0 0 0.004672 0 3 7 FBXO38 81545 broad.mit.edu 37 5 147821699 147821699 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:147821699G>A uc003lpf.1 + 22 3676 c.3556G>A c.(3556-3558)GAC>AAC p.D1186N FBXO38_uc003lpg.1_Missense_Mutation_p.D1111N|FBXO38_uc003lph.2_Missense_Mutation_p.D941N NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 1186 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTTGAAGATGACTACATTTA 0.458 NaN 0 0 0 0.016723 0 12 80 PPARD 5467 broad.mit.edu 37 6 35392554 35392554 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:35392554G>C uc003okm.2 + 7 1385 c.1076G>C c.(1075-1077)GGA>GCA p.G359A PPARD_uc003okl.2_Missense_Mutation_p.G359A|PPARD_uc003okn.2_Missense_Mutation_p.G359A|PPARD_uc011dtb.1_Missense_Mutation_p.G320A|PPARD_uc011dtc.1_Missense_Mutation_p.G261A NM_006238 NP_006229 Q03181 PPARD_HUMAN peroxisome proliferative activated receptor, 359 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) ATTCTGTGTGGAGGTGAGTGA 0.562 NaN 0 0 0 0.008871 0 15 22 TDRD6 221400 broad.mit.edu 37 6 46657989 46657989 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:46657989G>A uc003oyj.2 + 1 2124 c.2124G>A c.(2122-2124)CAG>CAA p.Q708Q TDRD6_uc010jze.2_Silent_p.Q702Q NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 708 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) AAGGAGAGCAGAAAGCCAAGA 0.408 NaN 0 0 0 0.006122 0 15 24 NT5E 4907 broad.mit.edu 37 6 86194979 86194979 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:86194979G>A uc003pko.3 + 4 1334 c.778G>A c.(778-780)GCT>ACT p.A260T NT5E_uc010kbr.2_Missense_Mutation_p.A260T NM_002526 NP_002517 P21589 5NTD_HUMAN 5' nucleotidase, ecto precursor 260 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding ovary(3)|central_nervous_system(1) 4 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) AGAGGTGCCTGCTGGGAAGTA 0.502 NaN 0 0 0 0.006214 0 9 55 FOXO3 2309 broad.mit.edu 37 6 108984897 108984897 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:108984897G>A uc003psk.2 + 3 1177 c.861G>A c.(859-861)CAG>CAA p.Q287Q FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.Q287Q|FOXO3_uc011ean.1_Silent_p.Q67Q|FOXO3_uc010kdj.1_Silent_p.Q67Q NM_201559 NP_963853 O43524 FOXO3_HUMAN forkhead box O3A 287 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding central_nervous_system(4)|lung(2) 6 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) GTCCCTCCCAGCTCTCCAAGT 0.597 NaN 0 0 0 0.006122 0 12 18 SESN1 27244 broad.mit.edu 37 6 109308772 109308772 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:109308772C>G uc003pst.3 - 10 1546 c.1454G>C c.(1453-1455)AGA>ACA p.R485T SESN1_uc003psu.2_Missense_Mutation_p.R544T NM_014454 NP_055269 Q9Y6P5 SESN1_HUMAN sestrin 1 485 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus ovary(1) 1 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) GGTAATGGCTCTCAGAGCATA 0.398 NaN 0 0 0 0.00632 0 20 55 COL10A1 1300 broad.mit.edu 37 6 116442382 116442382 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:116442382C>T uc003pwm.2 - 3 993 c.897G>A c.(895-897)GGG>GGA p.G299G NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron NM_000493 NP_000484 Q03692 COAA1_HUMAN type X collagen alpha 1 precursor 299 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1) 1 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) AGCCTGGTTTCCCAAAGCCAG 0.642 NaN 0 0 0 0.004482 0 8 27 HDDC2 51020 broad.mit.edu 37 6 125621706 125621706 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:125621706C>T uc003qaa.1 - 2 388 c.184G>A c.(184-186)GAT>AAT p.D62N HDDC2_uc003qab.1_RNA NM_016063 NP_057147 Q7Z4H3 HDDC2_HUMAN HD domain containing 2 62 HD. metal ion binding|phosphoric diester hydrolase activity 0 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0186) AGACGGTCATCTTTGATCACC 0.498 NaN 0 0 0 0.028581 0 15 61 FNDC1 84624 broad.mit.edu 37 6 159653433 159653433 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:159653433C>G uc010kjv.2 + 11 2089 c.1889C>G c.(1888-1890)TCT>TGT p.S630C FNDC1_uc010kjw.1_Missense_Mutation_p.S515C NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 630 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CAGGGCACCTCTCATCGTCCT 0.667 NaN 0 0 0 0.006122 0 12 96 WDR27 253769 broad.mit.edu 37 6 170013745 170013745 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:170013745G>A uc003qwx.2 - 22 2751 c.2231C>T c.(2230-2232)TCA>TTA p.S744L WDR27_uc003qwv.1_Intron|WDR27_uc010kkw.1_Missense_Mutation_p.S744L|WDR27_uc003qwy.2_Missense_Mutation_p.S617L A2RRH5 WDR27_HUMAN RecName: Full=WD repeat-containing protein 27; 714 WD 8. pancreas(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GGTTGTAAATGATGAACCCTA 0.423 NaN 0 0 0 0.014758 0 4 24 AMZ1 155185 broad.mit.edu 37 7 2749415 2749415 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:2749415C>A uc003smr.1 + 6 1274 c.913C>A c.(913-915)CAT>AAT p.H305N AMZ1_uc003sms.1_Missense_Mutation_p.A248E|AMZ1_uc011jwa.1_Missense_Mutation_p.H54N NM_133463 NP_597720 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 305 metallopeptidase activity|zinc ion binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) GAAGCTGCAGCATGTCCTGGG 0.701 NaN OREG0017838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.4624e-09 0.008871 2.59031e-09 15 31 PLEKHA8 84725 broad.mit.edu 37 7 30094402 30094402 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:30094402G>A uc003tam.1 + 8 965 c.874G>A c.(874-876)GAC>AAC p.D292N PLEKHA8_uc003tao.2_Missense_Mutation_p.D176N|PLEKHA8_uc003tap.1_Missense_Mutation_p.D292N|PLEKHA8_uc003tan.2_Missense_Mutation_p.D292N NM_032639 NP_116028 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A 292 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(3)|ovary(1) 4 GTCTGGATCAGACTCAAGTTG 0.383 NaN 0 0 0 0.021523 0 22 79 MYO1G 64005 broad.mit.edu 37 7 45015119 45015119 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:45015119C>T uc003tmh.2 - 4 672 c.528G>A c.(526-528)CCG>CCA p.P176P MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Silent_p.P61P|MYO1G_uc003tmi.1_Silent_p.P88P|MYO1G_uc003tmj.2_5'UTR NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 176 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 GTCCTCCGATCGGGTCCCCCT 0.607 NaN 0 0 0 0.01892 0 16 28 EPHB4 2050 broad.mit.edu 37 7 100417263 100417263 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:100417263C>G uc003uwn.1 - 6 1704 c.1213G>C c.(1213-1215)GAG>CAG p.E405Q EPHB4_uc003uwm.1_Missense_Mutation_p.E312Q|EPHB4_uc010lhj.1_Missense_Mutation_p.E405Q|EPHB4_uc011kkf.1_Missense_Mutation_p.E405Q|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.E405Q NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 405 Extracellular (Potential).|Fibronectin type-III 1. 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) GCAGTGACCTCAAAGGTATAG 0.622 NaN 0 0 0 0.024245 0 13 146 RELN 5649 broad.mit.edu 37 7 103202301 103202301 + Nonsense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:103202301C>T uc003vca.2 - 35 5470 c.5310G>A c.(5308-5310)TGG>TGA p.W1770* RELN_uc010liz.2_Nonsense_Mutation_p.W1770* NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1770 EGF-like 4. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGAGCACATCCAAGGGCACC 0.473 NaN 0 0 0 0.007835 0 30 48 IFRD1 3475 broad.mit.edu 37 7 112096991 112096991 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:112096991C>A uc003vgh.2 + 5 750 c.307C>A c.(307-309)CTT>ATT p.L103I IFRD1_uc011kmn.1_Missense_Mutation_p.L53I|IFRD1_uc003vgi.2_Missense_Mutation_p.L103I|IFRD1_uc003vgj.2_Missense_Mutation_p.L103I|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.L53I NM_001007245 NP_001007246 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 103 multicellular organismal development|myoblast cell fate determination binding kidney(1)|central_nervous_system(1) 2 GCAAGCAGCTCTTGAAGGTAT 0.338 NaN 1 0 0.00024832 0.009096 0.000257871 3 39 FLNC 2318 broad.mit.edu 37 7 128488646 128488646 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:128488646G>C uc003vnz.3 + 27 4821 c.4612G>C c.(4612-4614)GAT>CAT p.D1538H FLNC_uc003voa.3_Missense_Mutation_p.D1538H NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1538 Filamin 14. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CCCAGCTCATGATGCCAGCAA 0.642 NaN 0 0 0 0.01441 0 54 254 ZNF425 155054 broad.mit.edu 37 7 148801424 148801424 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:148801424G>A uc003wfj.2 - 4 1612 c.1539C>T c.(1537-1539)CTC>CTT p.L513L NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 513 C2H2-type 11. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGTGCTGCGTGAGCCGCGACT 0.637 NaN 0 0 0 0.016723 0 9 33 MLL3 58508 broad.mit.edu 37 7 151945127 151945127 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:151945127G>C uc003wla.2 - 14 2611 c.2392C>G c.(2392-2394)CAT>GAT p.H798D NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 798 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) GGGTAATTATGCAGCATGTCA 0.443 NaN N medulloblastoma 0 0 0 0.019004 0 25 552 IKBKB 3551 broad.mit.edu 37 8 42183487 42183487 + Splice_Site SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:42183487G>C uc003xow.1 + 20 2164 c.1987_splice c.e20-1 p.S663_splice IKBKB_uc010lxj.1_Splice_Site_p.S440_splice|IKBKB_uc003xox.1_Splice_Site_p.S384_splice|IKBKB_uc011lcp.1_Splice_Site|IKBKB_uc011lcq.1_Splice_Site_p.S661_splice|IKBKB_uc010lxi.1_Splice_Site|IKBKB_uc011lcr.1_Splice_Site_p.S604_splice NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TTGTCCCCTAGAGCAAGGTCC 0.522 NaN 0 0 0 0.01441 0 44 157 LRRCC1 85444 broad.mit.edu 37 8 86050700 86050700 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:86050700G>C uc003ycw.2 + 17 2984 c.2830G>C c.(2830-2832)GAA>CAA p.E944Q LRRCC1_uc003ycx.2_Missense_Mutation_p.E851Q|LRRCC1_uc003ycy.2_Missense_Mutation_p.E924Q NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 944 cell division|mitosis centriole|nucleus 0 CAAAAGTATTGAACTACAAAA 0.333 NaN 0 0 0 0.028581 0 13 20 ESRP1 54845 broad.mit.edu 37 8 95655543 95655543 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:95655543G>A uc003ygq.3 + 3 457 c.274G>A c.(274-276)GTG>ATG p.V92M ESRP1_uc003ygr.3_Missense_Mutation_p.V92M|ESRP1_uc003ygs.3_Missense_Mutation_p.V92M|ESRP1_uc003ygt.3_Missense_Mutation_p.V92M|ESRP1_uc003ygu.3_Missense_Mutation_p.V92M|ESRP1_uc003ygv.2_5'Flank|ESRP1_uc003ygw.2_5'Flank NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 92 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 TAACCAGTCAGTGAGCAATGA 0.453 NaN 0 0 0 0.014758 0 4 87 PLEKHF2 79666 broad.mit.edu 37 8 96166849 96166849 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:96166849C>T uc003yhn.1 + 2 824 c.577C>T c.(577-579)CTT>TTT p.L193F NM_024613 NP_078889 Q9H8W4 PKHF2_HUMAN phafin 2 193 FYVE-type. transport vesicle metal ion binding|protein binding ovary(2) 2 Breast(36;3.18e-05) GAGATTTCTTCTTCCCAGCCA 0.507 NaN 0 0 0 0.01441 0 51 98 RIMS2 9699 broad.mit.edu 37 8 104897909 104897909 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:104897909G>A uc003yls.2 + 2 657 c.416G>A c.(415-417)CGA>CAA p.R139Q RIMS2_uc003ylp.2_Missense_Mutation_p.R361Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R169Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R169Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R169Q NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 392 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAAGTGTCCCGAGCACGGCAT 0.478 NaN HNSCC(12;0.0054) 0 0 0 0.024245 0 12 21 CSMD3 114788 broad.mit.edu 37 8 113241090 113241090 + Nonsense_Mutation SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:113241090G>T uc003ynu.2 - 70 11018 c.10859C>A c.(10858-10860)TCA>TAA p.S3620* CSMD3_uc003yns.2_Nonsense_Mutation_p.S2822*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S3580*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S3451* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3620 Extracellular (Potential). 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 AGGTTGATTTGAAGAATTTGA 0.279 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 1 0 1.20859e-23 0.007413 1.32292e-23 15 18 ENPP2 5168 broad.mit.edu 37 8 120620215 120620215 + Silent SNP T T C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:120620215T>C uc003yot.1 - 9 866 c.780A>G c.(778-780)CTA>CTG p.L260L ENPP2_uc003yos.1_Silent_p.L260L|ENPP2_uc010mdd.1_Silent_p.L260L NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 260 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CTGTAATCCATAGCTAATGAG 0.318 NaN 0 0 0 0.006122 0 15 12 MAPK15 225689 broad.mit.edu 37 8 144803789 144803789 + Silent SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:144803789G>T uc003yzj.2 + 12 1316 c.1275G>T c.(1273-1275)GGG>GGT p.G425G NM_139021 NP_620590 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 425 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding lung(2) 2 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTCTCCTAGGGAATGGGGAAA 0.662 NaN 1 0 2.41358e-16 0.01441 2.59513e-16 60 64 SLC1A1 6505 broad.mit.edu 37 9 4574009 4574009 + Silent SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr9:4574009G>C uc003zij.1 + 8 1106 c.870G>C c.(868-870)CTG>CTC p.L290L C9orf68_uc003zik.2_Intron NM_004170 NP_004161 P43005 EAA3_HUMAN solute carrier family 1, member 1 290 Helical; (Potential). D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) CCACAGTCCTGACTGGGTATG 0.458 NaN 0 0 0 0.011902 0 44 47 C9orf43 257169 broad.mit.edu 37 9 116190476 116190476 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr9:116190476G>C uc004bho.3 + 12 1476 c.1080G>C c.(1078-1080)CAG>CAC p.Q360H C9orf43_uc004bhp.2_Missense_Mutation_p.Q360H NM_152786 NP_689999 Q8TAL5 CI043_HUMAN hypothetical protein LOC257169 360 0 AGCAGCAGCAGATGGAAAAAG 0.373 NaN 0 0 0 0.004672 0 3 127 RBM10 8241 broad.mit.edu 37 X 47045491 47045491 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chrX:47045491G>A uc004dhf.2 + 22 2837 c.2458G>A c.(2458-2460)GAA>AAA p.E820K RBM10_uc004dhg.2_Missense_Mutation_p.E742K|RBM10_uc004dhh.2_Missense_Mutation_p.E819K|RBM10_uc010nhq.2_Missense_Mutation_p.E743K|RBM10_uc004dhi.2_Missense_Mutation_p.E885K NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 820 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 CCGTGCAGCTGAACGCAGAGA 0.552 NaN 0 0 0 0.007413 0 16 17 CACNA1F 778 broad.mit.edu 37 X 49071570 49071570 + Silent SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chrX:49071570G>C uc004dnb.2 - 29 3668 c.3606C>G c.(3604-3606)CTC>CTG p.L1202L CACNA1F_uc010nip.2_Silent_p.L1191L NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1202 Helical; Name=S1 of repeat IV; (Potential).|IV. axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) CAACTGTGTTGAGCAGGATGA 0.552 NaN 0 0 0 0.027894 0 29 29 STAG2 10735 broad.mit.edu 37 X 123185061 123185061 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chrX:123185061C>T uc004etz.3 + 11 1447 c.1108C>T c.(1108-1110)CGG>TGG p.R370W STAG2_uc004eua.2_Missense_Mutation_p.R370W|STAG2_uc004eub.2_Missense_Mutation_p.R370W|STAG2_uc004euc.2_Missense_Mutation_p.R370W|STAG2_uc004eud.2_Missense_Mutation_p.R370W|STAG2_uc004eue.2_Missense_Mutation_p.R370W NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 370 SCD. cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TTTTACCAGTCGGTTCAAGGT 0.294 NaN 0 0 0 0.014758 0 4 5 TAZ 6901 broad.mit.edu 37 X 153640483 153640483 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chrX:153640483G>A uc004fkx.2 + 2 474 c.170G>A c.(169-171)CGA>CAA p.R57Q DNASE1L1_uc004fks.1_5'Flank|DNASE1L1_uc004fkt.1_5'Flank|DNASE1L1_uc004fku.1_5'Flank|DNASE1L1_uc004fkv.1_5'Flank|DNASE1L1_uc004fkw.1_5'Flank|TAZ_uc004fky.2_Missense_Mutation_p.R57Q|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.R57Q|TAZ_uc004flb.2_Missense_Mutation_p.R57Q|TAZ_uc010nuy.2_Missense_Mutation_p.R75Q|TAZ_uc004flc.3_Intron NM_000116 NP_000107 Q16635 TAZ_HUMAN tafazzin isoform 1 57 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity 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) ATCGAGAAGCGAGGCCCGGCC 0.662 NaN OREG0003602 type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.028581 0 14 6 C11orf63 79864 broad.mit.edu 37 11 122775122 122775123 + Frame_Shift_Ins INS - - A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:122775122_122775123insA uc001pym.2 + 3 1131_1132 c.834_835insA c.(832-837)AATAAAfs p.N278fs C11orf63_uc001pyl.1_Frame_Shift_Ins_p.N278fs NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 278_279 ovary(3) 3 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) AACTTCACAATAAAAAAAGAGG 0.406 NaN NaN NaN NaN NaN NaN 86 153 --- --- SOX1 6656 broad.mit.edu 37 13 112722081 112722083 + In_Frame_Del DEL GGC GGC - TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr13:112722081_112722083delGGC uc001vsb.1 + 1 169_171 c.109_111delGGC c.(109-111)GGCdel p.G43del NM_005986 NP_005977 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 43 Poly-Gly. chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) cggaggcgggggcggcggcggcg 0.552 NaN NaN NaN NaN NaN NaN 5 10 --- --- UACA 55075 broad.mit.edu 37 15 70979935 70979935 + Frame_Shift_Del DEL T T - rs147378902 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:70979935delT uc002asr.2 - 7 650 c.546delA c.(544-546)ATAfs p.I182fs UACA_uc010uke.1_Intron|UACA_uc002asq.2_Frame_Shift_Del_p.I169fs|UACA_uc010bin.1_Frame_Shift_Del_p.I168fs NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 182 ANK 5. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 GCAGTTGACATATTGTTGGCC 0.428 NaN NaN NaN NaN NaN NaN 21 96 --- --- GGA3 23163 broad.mit.edu 37 17 73239175 73239175 + Frame_Shift_Del DEL T T - TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:73239175delT uc002jni.1 - 6 506 c.497delA c.(496-498)AACfs p.N166fs GGA3_uc002jnj.1_Frame_Shift_Del_p.N133fs|GGA3_uc010wrw.1_Frame_Shift_Del_p.N44fs|GGA3_uc002jnk.1_Frame_Shift_Del_p.N94fs|GGA3_uc010wrx.1_Frame_Shift_Del_p.N44fs|GGA3_uc010wry.1_Frame_Shift_Del_p.N94fs|GGA3_uc010wrz.1_Intron NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN ADP-ribosylation factor binding protein 3 166 Binds to ARF1 (in long isoform). intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|breast(1) 2 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) AAAAACAGGGTTTTTGGGACG 0.542 NaN NaN NaN NaN NaN NaN 7 303 --- --- HCN2 610 broad.mit.edu 37 19 616296 616296 + Frame_Shift_Del DEL C C - TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:616296delC uc002lpe.2 + 8 2545 c.2492delC c.(2491-2493)GCCfs p.A831fs NM_001194 NP_001185 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic 831 Pro-rich.|Cytoplasmic (Potential). cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity 0 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCAcggcgcccccggcccc 0.413 NaN NaN NaN NaN NaN NaN 2 4 --- ---