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 SPEN 23013 broad.mit.edu 37 1 16260826 16260826 + Silent SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:16260826G>C uc001axk.1 + 11 8295 c.8091G>C c.(8089-8091)GTG>GTC p.V2697V SPEN_uc010obp.1_Silent_p.V2656V NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2697 RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AAGGGCCTGTGAATGTTCTTA 0.597 NaN 0 0 0 0.00308 0 7 63 GSTM5 2949 broad.mit.edu 37 1 110257779 110257779 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:110257779G>C uc001dyn.2 + 7 555 c.484G>C c.(484-486)GAT>CAT p.D162H GSTM5_uc010ovu.1_Missense_Mutation_p.D121H NM_000851 NP_000842 P46439 GSTM5_HUMAN glutathione S-transferase mu 5 162 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity central_nervous_system(6) 6 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) CCTTGCCTATGATGTCCTTGA 0.468 NaN 0 0 0 0.006214 0 8 114 NGF 4803 broad.mit.edu 37 1 115828746 115828746 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:115828746C>T uc001efu.1 - 3 840 c.671G>A c.(670-672)CGG>CAG p.R224Q NM_002506 NP_002497 P01138 NGF_HUMAN nerve growth factor, beta polypeptide precursor 224 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding upper_aerodigestive_tract(2) 2 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) CGTATCTATCCGGATAAACCG 0.572 NaN 0 0 0 0.00308 0 7 89 ANKRD34A 284615 broad.mit.edu 37 1 145473839 145473839 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:145473839C>T uc001enq.1 + 4 1804 c.511C>T c.(511-513)CCT>TCT p.P171S NBPF10_uc001emp.3_Intron NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 171 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGTGGAGGACCCTGCTCCCGC 0.627 NaN 0 0 0 0.013726 0 27 77 PI4KB 5298 broad.mit.edu 37 1 151271497 151271497 + Missense_Mutation SNP A A C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:151271497A>C uc001ext.2 - 9 2217 c.1802T>G c.(1801-1803)CTT>CGT p.L601R PI4KB_uc001exr.2_Missense_Mutation_p.L613R|PI4KB_uc001exs.2_Missense_Mutation_p.L586R|PI4KB_uc001exu.2_Missense_Mutation_p.L586R|PI4KB_uc010pcw.1_Missense_Mutation_p.L269R NM_002651 NP_002642 Q9UBF8 PI4KB_HUMAN catalytic phosphatidylinositol 4-kinase beta 601 PI3K/PI4K. phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding ovary(2)|skin(2) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CGAAATCACAAGAATCTTGTA 0.468 NaN 0 0 0 0.01441 0 44 101 ZBTB7B 51043 broad.mit.edu 37 1 154988705 154988705 + Missense_Mutation SNP G G T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:154988705G>T uc001fgk.3 + 4 1322 c.1164G>T c.(1162-1164)AAG>AAT p.K388N ZBTB7B_uc009wpa.2_Missense_Mutation_p.K388N|ZBTB7B_uc001fgj.3_Missense_Mutation_p.K422N|ZBTB7B_uc010peq.1_Missense_Mutation_p.K422N|ZBTB7B_uc001fgl.3_Missense_Mutation_p.K388N NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 388 C2H2-type 2. cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 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) GGAACGACAAGCTGAAGATCC 0.632 NaN 1 0 7.34454e-26 0.01441 8.49987e-26 43 74 SPTA1 6708 broad.mit.edu 37 1 158639226 158639226 + Missense_Mutation SNP T T A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:158639226T>A uc001fst.1 - 14 2004 c.1805A>T c.(1804-1806)AAA>ATA p.K602I NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 602 Spectrin 7. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TGCCAACTTTTTCTTCTTGTT 0.388 NaN 0 0 0 0.01441 0 94 189 RC3H1 149041 broad.mit.edu 37 1 173916585 173916585 + Nonsense_Mutation SNP T T A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:173916585T>A uc001gju.3 - 14 2746 c.2659A>T c.(2659-2661)AAA>TAA p.K887* RC3H1_uc010pms.1_Nonsense_Mutation_p.K887*|RC3H1_uc001gjv.2_Nonsense_Mutation_p.K887*|RC3H1_uc010pmt.1_Nonsense_Mutation_p.K887* NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 887 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TATATAGTTTTGGAAGTTCGT 0.463 NaN 0 0 0 0.013537 0 8 80 C1orf125 126859 broad.mit.edu 37 1 179335702 179335702 + Missense_Mutation SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:179335702A>G uc001gmo.2 + 2 185 c.58A>G c.(58-60)AAA>GAA p.K20E C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Intron|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K20E NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 20 0 ATCTGAGAGCAAAAAGTTAAA 0.418 NaN 0 0 0 0.013537 0 9 49 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:186276981A>G uc001gru.3 + 7 2181 c.2130A>G c.(2128-2130)AAA>AAG p.K710K PRG4_uc001grt.3_Silent_p.K669K|PRG4_uc009wyl.2_Silent_p.K617K|PRG4_uc009wym.2_Silent_p.K576K|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|43; approximate. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CTACCCCTAAAGGGACTGCTC 0.582 NaN 0 0 0 0.001168 0 6 118 CR1 1378 broad.mit.edu 37 1 207758216 207758216 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:207758216G>A uc001hfy.2 + 25 4315 c.4175G>A c.(4174-4176)CGT>CAT p.R1392H CR1_uc009xcl.1_Missense_Mutation_p.R942H|CR1_uc001hfx.2_Missense_Mutation_p.R1842H NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1392 Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 CTTTCTGTTCGTGCTGGTCAG 0.488 NaN 0 0 0 0.006122 0 16 160 OR2T4 127074 broad.mit.edu 37 1 248525736 248525736 + Missense_Mutation SNP G G T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:248525736G>T uc001ieh.1 + 1 854 c.854G>T c.(853-855)GGG>GTG p.G285V NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 285 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCTTCTATGGGGCTGCCATC 0.552 NaN 1 0 2.94398e-08 0.007413 3.22585e-08 14 130 E2F8 79733 broad.mit.edu 37 11 19258890 19258890 + Missense_Mutation SNP A A C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr11:19258890A>C uc001mpm.2 - 4 944 c.422T>G c.(421-423)ATC>AGC p.I141S E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.I141S|E2F8_uc001mpo.1_Missense_Mutation_p.I141S NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 141 Potential. cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GTCAAGGCAGATGTCATTATT 0.373 NaN 0 0 0 0.004482 0 7 36 OR8H3 390152 broad.mit.edu 37 11 55890296 55890296 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr11:55890296G>C uc001nii.1 + 1 448 c.448G>C c.(448-450)GTG>CTG p.V150L NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) TGGGCCTTATGTGATTGGCTT 0.453 NaN 0 0 0 0.003163 0 15 73 GLYATL2 219970 broad.mit.edu 37 11 58604562 58604562 + Missense_Mutation SNP T T C rs140678694 by1000genomes TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr11:58604562T>C uc001nnd.3 - 5 533 c.402A>G c.(400-402)ATA>ATG p.I134M GLYATL2_uc009ymq.2_Missense_Mutation_p.I134M NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 134 mitochondrion glycine N-acyltransferase activity ovary(1)|skin(1) 2 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) GTAATTCCGGTATAAAGAGGA 0.388 NaN 0 0 0 0.000602 0 5 68 SHANK2 22941 broad.mit.edu 37 11 70333340 70333340 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr11:70333340C>T uc001oqc.2 - 21 3136 c.3058G>A c.(3058-3060)GAG>AAG p.E1020K SHANK2_uc010rqn.1_Missense_Mutation_p.E432K|SHANK2_uc001opz.2_Missense_Mutation_p.E425K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 641 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GGGCTGTCCTCCACGTTGGAC 0.627 NaN 0 0 0 0.004007 0 12 195 IQSEC3 440073 broad.mit.edu 37 12 248024 248024 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr12:248024G>A uc001qhw.1 + 1 592 c.586G>A c.(586-588)GTC>ATC p.V196I IQSEC3_uc001qhu.1_Missense_Mutation_p.V196I|IQSEC3_uc001qht.1_Missense_Mutation_p.V281I|uc001qhv.1_Intron NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 499 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GAACATATCCGTCTCCTCCTC 0.711 NaN 0 0 0 0.004672 0 3 31 BAZ2A 11176 broad.mit.edu 37 12 57009072 57009072 + Silent SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr12:57009072G>C uc001slq.1 - 3 656 c.462C>G c.(460-462)ACC>ACG p.T154T BAZ2A_uc001slp.1_Silent_p.T152T|BAZ2A_uc010sqr.1_Silent_p.T154T|BAZ2A_uc009zow.1_Silent_p.T152T NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 154 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 TGGGACTCTGGGTACCGTTGG 0.517 NaN 0 0 0 0.013537 0 11 31 DNAH10 196385 broad.mit.edu 37 12 124416242 124416242 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr12:124416242G>A uc001uft.3 + 74 12647 c.12622G>A c.(12622-12624)GAA>AAA p.E4208K DNAH10_uc001ufu.3_Missense_Mutation_p.E121K NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4208 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAAAGAAATAGAAAACAAGAT 0.517 NaN 0 0 0 0.001984 0 7 26 RB1 5925 broad.mit.edu 37 13 49039215 49039215 + Nonsense_Mutation SNP A A T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 A T A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr13:49039215A>T uc001vcb.2 + 22 2459 c.2293A>T c.(2293-2295)AAA>TAA p.K765* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 765 Interaction with LIMD1.|Pocket; binds T and E1A.|Domain B. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(8) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCAGAGACTGAAAACAAATAT 0.333 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 0 0 0 0.010729 0 9 20 UTP14C 9724 broad.mit.edu 37 13 52605023 52605023 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr13:52605023G>C uc001vgb.2 + 2 2618 c.2083G>C c.(2083-2085)GAA>CAA p.E695Q UTP14C_uc001vgc.2_RNA NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 695 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome ovary(3)|large_intestine(1)|breast(1) 5 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) TCGGCAATTTGAAAGGACCAT 0.488 NaN 0 0 0 0.00308 0 6 126 DACH1 1602 broad.mit.edu 37 13 72204709 72204709 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr13:72204709C>T uc010thn.1 - 4 1528 c.1105G>A c.(1105-1107)GGG>AGG p.G369R DACH1_uc010tho.1_Missense_Mutation_p.G369R|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 369 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TTCATGTCCCCGTTTTCAGAG 0.343 NaN 0 0 0 0.000602 0 4 167 MDGA2 161357 broad.mit.edu 37 14 47342656 47342656 + Missense_Mutation SNP T T G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr14:47342656T>G uc001wwj.3 - 14 2721 c.2525A>C c.(2524-2526)CAC>CCC p.H842P MDGA2_uc001wwh.3_Missense_Mutation_p.H44P|MDGA2_uc001wwi.3_Missense_Mutation_p.H613P|MDGA2_uc010ani.2_Missense_Mutation_p.H402P NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 842 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TCCATACATGTGATAAAAGAA 0.363 NaN 0 0 0 0.006214 0 8 59 C15orf52 388115 broad.mit.edu 37 15 40627566 40627566 + Silent SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr15:40627566G>A uc001zlh.3 - 11 1414 c.1398C>T c.(1396-1398)CAC>CAT p.H466H C15orf52_uc010ucn.1_Silent_p.H256H NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 466 large_intestine(1) 1 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GCTCAGCCTGGTGATTGCTCC 0.657 NaN 0 0 0 0.000602 0 5 17 COPS2 9318 broad.mit.edu 37 15 49423006 49423006 + Nonsense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr15:49423006G>A uc001zxf.2 - 10 1034 c.955C>T c.(955-957)CAG>TAG p.Q319* COPS2_uc001zxh.2_Nonsense_Mutation_p.Q326*|COPS2_uc010ufa.1_Nonsense_Mutation_p.Q255* NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog 319 PCI. cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity lung(1) 1 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) TCATTATTCTGATAGGCACTA 0.303 NaN 0 0 0 0.000602 0 5 24 GLDN 342035 broad.mit.edu 37 15 51675642 51675642 + Missense_Mutation SNP G G T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr15:51675642G>T uc002aba.2 + 3 594 c.425G>T c.(424-426)GGA>GTA p.G142V GLDN_uc010bez.1_Missense_Mutation_p.D125Y|GLDN_uc002abb.2_Missense_Mutation_p.G18V NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 142 Extracellular (Potential).|Collagen-like 1. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane ovary(2) 2 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) GGACCTTCTGGACCACCAGGT 0.502 NaN OREG0023124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.39187e-15 0.008871 2.73737e-15 17 130 CALML4 91860 broad.mit.edu 37 15 68492003 68492003 + Missense_Mutation SNP G G T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr15:68492003G>T uc002arb.2 - 3 914 c.180C>A c.(178-180)TTC>TTA p.F60L CALML4_uc002arc.2_Intron|CALML4_uc002ard.2_RNA|CALML4_uc002are.2_Intron|CALML4_uc010bhz.2_Intron NM_033429 NP_219501 Q96GE6 CALL4_HUMAN calmodulin-like 4 isoform 1 60 EF-hand 1. F -> S (in Ref. 1; AAG48255). calcium ion binding 0 CATACAGGGAGAAGCATTCCT 0.627 NaN 1 0 2.7689e-08 0.001984 3.06663e-08 4 95 HCN4 10021 broad.mit.edu 37 15 73616166 73616166 + Silent SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr15:73616166C>A uc002avp.2 - 8 3262 c.2268G>T c.(2266-2268)GCG>GCT p.A756A NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 756 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) GGACGCGGTGCGCGCAGTGGG 0.632 NaN 1 0 3.86212e-05 0.008291 4.01816e-05 9 57 MKL2 57496 broad.mit.edu 37 16 14312706 14312706 + Missense_Mutation SNP C C G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr16:14312706C>G uc010uza.1 + 8 699 c.544C>G c.(544-546)CAG>GAG p.Q182E MKL2_uc002dcg.2_Missense_Mutation_p.Q182E|MKL2_uc002dch.2_Missense_Mutation_p.Q171E|MKL2_uc010uzb.1_Missense_Mutation_p.Q131E NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN megakaryoblastic leukemia 2 protein 171 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity ovary(3)|kidney(1)|pancreas(1) 5 TCCCCACACTCAGGGCGATTT 0.502 NaN 0 0 0 0.004482 0 7 50 NSMCE1 197370 broad.mit.edu 37 16 27268804 27268804 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr16:27268804C>T uc002doi.1 - 2 186 c.88G>A c.(88-90)GAA>AAA p.E30K NSMCE1_uc002doj.1_RNA NM_145080 NP_659547 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog 30 DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding 0 ACGTCCCATTCCTCTAGCACG 0.582 NaN 0 0 0 0.012213 0 29 63 CBFA2T3 863 broad.mit.edu 37 16 88952449 88952449 + Silent SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr16:88952449G>A uc002fmm.1 - 6 999 c.813C>T c.(811-813)GAC>GAT p.D271D CBFA2T3_uc002fml.1_Silent_p.D185D|CBFA2T3_uc010cif.1_Silent_p.D210D|CBFA2T3_uc002fmn.1_Silent_p.D246D NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 271 Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) AGGCGCTGGCGTCCAGCAGGA 0.657 NaN T RUNX1 AML 0 0 0 0.004672 0 2 3 ASGR1 432 broad.mit.edu 37 17 7077348 7077348 + Nonsense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:7077348C>T uc002ges.3 - 8 1043 c.633G>A c.(631-633)TGG>TGA p.W211* ASGR1_uc010clx.1_Nonsense_Mutation_p.W110* NM_001671 NP_001662 P07306 ASGR1_HUMAN asialoglycoprotein receptor 1 211 Extracellular (Probable).|C-type lectin. receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding breast(1)|central_nervous_system(1) 2 GGAGGCCCATCCAGGTGTTCA 0.647 NaN 0 0 0 0.00245 0 12 67 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (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.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 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 0.010818 0 22 64 ALOXE3 59344 broad.mit.edu 37 17 8012598 8012598 + Missense_Mutation SNP A A C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:8012598A>C uc010cnr.2 - 12 1826 c.1456T>G c.(1456-1458)TAC>GAC p.Y486D ALOXE3_uc002gka.2_Missense_Mutation_p.Y642D|ALOXE3_uc010vuo.1_Missense_Mutation_p.Y618D NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 isoform 2 486 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity skin(3)|lung(1)|central_nervous_system(1) 5 AAATTGGTGTAGGTGAAGTGG 0.657 NaN 0 0 0 0.004672 0 3 42 AMAC1 146861 broad.mit.edu 37 17 33521026 33521026 + Nonsense_Mutation SNP G G A rs139972846 TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:33521026G>A uc002hjd.2 - 1 387 c.301C>T c.(301-303)CGA>TGA p.R101* NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 101 DUF6 1. integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) GCCCGGCTTCGGATGTCAGGA 0.607 NaN 0 0 0 0.011902 0 43 133 GGNBP2 79893 broad.mit.edu 37 17 34942489 34942489 + Missense_Mutation SNP C C G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:34942489C>G uc002hnb.2 + 12 1751 c.1502C>G c.(1501-1503)TCT>TGT p.S501C GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.S330C NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 501 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GGTGATGACTCTTGTGTTCAT 0.368 NaN 0 0 0 0.008871 0 17 75 GJC1 10052 broad.mit.edu 37 17 42882050 42882050 + Missense_Mutation SNP T T G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:42882050T>G uc002ihj.2 - 2 1647 c.1136A>C c.(1135-1137)AAC>ACC p.N379T GJC1_uc002ihk.2_Missense_Mutation_p.N379T|GJC1_uc002ihl.2_Missense_Mutation_p.N379T|GJC1_uc010czx.2_Missense_Mutation_p.N379T|GJC1_uc010czy.1_Missense_Mutation_p.N240T NM_005497 NP_005488 P36383 CXG1_HUMAN connexin 45 379 Cytoplasmic (Potential). cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane 0 Prostate(33;0.0959) AGTGCTTTTGTTGGACCCAGC 0.517 NaN 0 0 0 0.007413 0 15 199 TOM1L1 10040 broad.mit.edu 37 17 52981124 52981124 + Silent SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:52981124C>A uc002iud.2 + 2 289 c.114C>A c.(112-114)ATC>ATA p.I38I TOM1L1_uc002iub.2_Silent_p.I3I|TOM1L1_uc002iuc.2_Silent_p.I38I|TOM1L1_uc010dca.1_Silent_p.I38I|TOM1L1_uc010wnb.1_Silent_p.I38I|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_Translation_Start_Site NM_005486 NP_005477 O75674 TM1L1_HUMAN target of myb1-like 1 38 VHS. intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding ovary(1) 1 TCATGCACATCTGTGACATAA 0.428 NaN 1 0 3.09899e-07 0.004482 3.29067e-07 6 78 BCAS3 54828 broad.mit.edu 37 17 58952079 58952079 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:58952079C>T uc002iyv.3 + 9 750 c.641C>T c.(640-642)ACG>ATG p.T214M BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.T214M|BCAS3_uc002iyw.3_Missense_Mutation_p.T210M NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 214 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TGTACTTTCACGAAGAAATTC 0.328 NaN 0 0 0 0.000602 0 4 36 BPTF 2186 broad.mit.edu 37 17 65871019 65871019 + Missense_Mutation SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:65871019A>G uc002jgf.2 + 4 1808 c.1747A>G c.(1747-1749)ACT>GCT p.T583A BPTF_uc002jge.2_Missense_Mutation_p.T583A|BPTF_uc010wqm.1_Missense_Mutation_p.T583A NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 696 Interaction with KEAP1. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAAGAATGAGACTGAGAATGA 0.363 NaN 0 0 0 0.001984 0 6 45 C17orf28 283987 broad.mit.edu 37 17 72954437 72954437 + Silent SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:72954437G>A uc002jmj.3 - 11 1526 c.1377C>T c.(1375-1377)GCC>GCT p.A459A C17orf28_uc010wrs.1_Silent_p.A258A NM_030630 NP_085133 Q8IV36 CQ028_HUMAN hypothetical protein LOC283987 459 integral to membrane|plasma membrane protein binding 0 all_lung(278;0.151)|Lung NSC(278;0.185) TGAGCAGGTCGGCGTGGGTCC 0.662 NaN OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003163 0 10 22 SMAD4 4089 broad.mit.edu 37 18 48575203 48575203 + Missense_Mutation SNP T T A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr18:48575203T>A uc010xdp.1 + 3 935 c.397T>A c.(397-399)TAC>AAC p.Y133N SMAD4_uc010xdo.1_RNA NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 133 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(4) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TCCATATCACTACGAACGAGT 0.348 NaN Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 0 0 0 0.004007 0 13 35 DPP9 91039 broad.mit.edu 37 19 4704288 4704288 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr19:4704288C>T uc002mba.2 - 6 713 c.455G>A c.(454-456)CGG>CAG p.R152Q DPP9_uc002mbb.2_Missense_Mutation_p.R152Q|DPP9_uc002mbc.2_Missense_Mutation_p.R152Q NM_139159 NP_631898 Q86TI2 DPP9_HUMAN dipeptidylpeptidase 9 123 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) CTCCTCCTCCCGAGAGTAGAC 0.642 NaN 0 0 0 0.008871 0 14 78 MUC16 94025 broad.mit.edu 37 19 8999557 8999557 + Missense_Mutation SNP T T G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr19:8999557T>G uc002mkp.2 - 56 40822 c.40618A>C c.(40618-40620)AAG>CAG p.K13540Q MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.K357Q|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13542 SEA 10.|Extracellular (Potential). Missing (in Ref. 3; AAK74120). 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 GCCCCATCCTTCTTGGGCCTG 0.597 NaN 0 0 0 0.001984 0 7 41 DHX34 9704 broad.mit.edu 37 19 47884572 47884572 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr19:47884572G>A uc010xyn.1 + 16 3630 c.3289G>A c.(3289-3291)GGG>AGG p.G1097R DHX34_uc010xyo.1_Missense_Mutation_p.G226R NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 1097 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCCACAGGATGGGCCCCCAGG 0.672 NaN 0 0 0 0.010729 0 10 36 SYT5 6861 broad.mit.edu 37 19 55690386 55690386 + Silent SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr19:55690386C>A uc002qjm.1 - 1 1084 c.24G>T c.(22-24)CCG>CCT p.P8P SYT5_uc002qjp.2_Missense_Mutation_p.R63L|SYT5_uc002qjn.1_Silent_p.P8P|SYT5_uc002qjo.1_Silent_p.P8P NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 8 Vesicular (Potential). energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) ATGGAGGCCCCGGGGTTGGGG 0.667 NaN 1 0 3.09899e-07 0.004482 3.29067e-07 5 14 NLRP4 147945 broad.mit.edu 37 19 56370501 56370501 + Missense_Mutation SNP T T C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr19:56370501T>C uc002qmd.3 + 3 2164 c.1742T>C c.(1741-1743)ATT>ACT p.I581T NLRP4_uc002qmf.2_Missense_Mutation_p.I506T|NLRP4_uc010etf.2_Missense_Mutation_p.I412T NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 581 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TTTCATATTATTGACAACGTG 0.418 NaN 0 0 0 0.000602 0 5 37 CAD 790 broad.mit.edu 37 2 27444089 27444089 + Missense_Mutation SNP T T G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:27444089T>G uc002rji.2 + 3 388 c.226T>G c.(226-228)TTT>GTT p.F76V CAD_uc010eyw.2_Missense_Mutation_p.F76V NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 76 GATase (Glutamine amidotransferase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TCTACAGTGGTTTGAATCCTC 0.532 NaN 0 0 0 0.001855 0 9 56 KCNG3 170850 broad.mit.edu 37 2 42720041 42720041 + Missense_Mutation SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:42720041C>A uc002rsn.2 - 1 1197 c.601G>T c.(601-603)GCC>TCC p.A201S MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.2_Missense_Mutation_p.A201S NM_133329 NP_579875 Q8TAE7 KCNG3_HUMAN potassium voltage-gated channel, subfamily G, 201 endoplasmic reticulum|voltage-gated potassium channel complex protein binding central_nervous_system(1) 1 CGGTTGTCGGCGGCTGCGTTG 0.627 NaN 1 0 3.27435e-08 0.00245 3.55009e-08 11 26 ATP6V1B1 525 broad.mit.edu 37 2 71190385 71190385 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:71190385G>A uc002shj.2 + 10 1090 c.1003G>A c.(1003-1005)GTG>ATG p.V335M ATP6V1B1_uc010fdv.2_Missense_Mutation_p.V335M|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.V293M NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 335 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 GGCGGGCCGCGTGGAGGGTCG 0.627 NaN 0 0 0 0.00308 0 6 87 REG1A 5967 broad.mit.edu 37 2 79349974 79349974 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:79349974G>A uc002snz.2 + 5 432 c.329G>A c.(328-330)CGC>CAC p.R110H REG1A_uc010ysd.1_Missense_Mutation_p.R110H NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 110 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 TAGAACCGCCGCTGGCACTGG 0.552 NaN 0 0 0 0.00499 0 14 139 SLC9A4 389015 broad.mit.edu 37 2 103148843 103148843 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:103148843G>A uc002tbz.3 + 12 2550 c.2093G>A c.(2092-2094)CGG>CAG p.R698Q NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 698 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 GCATGCTCTCGGATAGGGTCA 0.448 NaN 0 0 0 0.003163 0 14 79 CCDC108 255101 broad.mit.edu 37 2 219892615 219892615 + Silent SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:219892615G>A uc002vjl.1 - 13 2052 c.1968C>T c.(1966-1968)GTC>GTT p.V656V CCDC108_uc010fwa.1_Silent_p.V99V|CCDC108_uc010zkp.1_Silent_p.V645V|CCDC108_uc010zkq.1_Silent_p.V591V NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 656 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTCTACCTCGACAGGCTCTA 0.617 NaN 0 0 0 0.006214 0 10 38 RNF160 26046 broad.mit.edu 37 21 30316094 30316094 + Missense_Mutation SNP T T C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr21:30316094T>C uc002ymr.2 - 23 4266 c.4253A>G c.(4252-4254)AAA>AGA p.K1418R NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1372 ligase activity|zinc ion binding 0 TAAGTTTGTTTTTTGGTCAGC 0.388 NaN 0 0 0 0.005443 0 21 127 CHAF1B 8208 broad.mit.edu 37 21 37781087 37781087 + Silent SNP A A C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr21:37781087A>C uc002yvj.2 + 9 924 c.786A>C c.(784-786)GTA>GTC p.V262V NM_005441 NP_005432 Q13112 CAF1B_HUMAN chromatin assembly factor 1 subunit B 262 WD 5. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding ovary(1)|skin(1) 2 GTGAAAATGTAATGAATACCA 0.353 NaN 0 0 0 0.004482 0 6 64 C21orf56 84221 broad.mit.edu 37 21 47588241 47588241 + Silent SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr21:47588241C>T uc011afu.1 - 3 1587 c.525G>A c.(523-525)AGG>AGA p.R175R C21orf56_uc002zii.2_Silent_p.R21R NM_001142854 NP_001136326 Q9H0A9 CU056_HUMAN hypothetical protein LOC84221 isoform 1 175 protein binding skin(1) 1 Breast(49;0.214) Colorectal(79;0.241) AGTAGCTCCTCCTGGTCCTGT 0.662 NaN 0 0 0 0.001168 0 5 48 SEZ6L 23544 broad.mit.edu 37 22 26743810 26743810 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr22:26743810G>A uc003acb.2 + 11 2494 c.2338G>A c.(2338-2340)GTG>ATG p.V780M SEZ6L_uc003acc.2_Missense_Mutation_p.V780M|SEZ6L_uc011akc.1_Missense_Mutation_p.V780M|SEZ6L_uc003acd.2_Missense_Mutation_p.V780M|SEZ6L_uc011akd.1_Missense_Mutation_p.V780M|SEZ6L_uc003ace.2_Missense_Mutation_p.V780M|SEZ6L_uc003acf.1_Missense_Mutation_p.V553M|SEZ6L_uc010gvc.1_Missense_Mutation_p.V553M|SEZ6L_uc011ake.1_RNA NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 780 Sushi 3.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CTATGACATCGTGGGGAGTGA 0.552 NaN 0 0 0 0.01441 0 43 74 CELSR1 9620 broad.mit.edu 37 22 46931440 46931440 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr22:46931440G>C uc003bhw.1 - 1 1628 c.1628C>G c.(1627-1629)CCG>CGG p.P543R NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 543 Extracellular (Potential).|Cadherin 3. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) ATTGATGAGCGGGGGCCGGCC 0.582 NaN 0 0 0 0.00245 0 13 82 HDAC10 83933 broad.mit.edu 37 22 50688081 50688081 + Silent SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr22:50688081G>C uc003bkg.2 - 6 919 c.546C>G c.(544-546)CTC>CTG p.L182L HDAC10_uc003bke.2_5'UTR|HDAC10_uc003bkf.2_5'UTR|HDAC10_uc010hav.2_Silent_p.L182L|HDAC10_uc003bkh.2_Missense_Mutation_p.S11C|HDAC10_uc003bki.2_Silent_p.L182L|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_5'Flank NM_032019 NP_114408 Q969S8 HDA10_HUMAN histone deacetylase 10 isoform 1 182 Histone deacetylase. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific) 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CATCCTCAAAGAGATACTGGA 0.622 NaN 0 0 0 0.001984 0 5 59 CCDC13 152206 broad.mit.edu 37 3 42777325 42777325 + Silent SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr3:42777325C>T uc003cly.3 - 10 1329 c.1245G>A c.(1243-1245)CTG>CTA p.L415L NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 415 Potential. ovary(1) 1 GTTGCTGGTCCAGGTGGTGCT 0.632 NaN 0 0 0 0.013537 0 12 54 MYNN 55892 broad.mit.edu 37 3 169502469 169502469 + Nonsense_Mutation SNP A A T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr3:169502469A>T uc003fft.2 + 7 1972 c.1543A>T c.(1543-1545)AAG>TAG p.K515* MYNN_uc011bpm.1_Nonsense_Mutation_p.K401*|MYNN_uc003ffu.2_Nonsense_Mutation_p.K515*|MYNN_uc003ffv.2_Nonsense_Mutation_p.K242*|MYNN_uc010hwo.2_Intron|MYNN_uc003ffw.1_RNA NM_018657 NP_061127 Q9NPC7 MYNN_HUMAN myoneurin 515 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TAAAAATTTAAAGAAGCACAA 0.234 NaN 0 0 0 0.009096 0 3 20 PIK3CA 5290 broad.mit.edu 37 3 178919316 178919316 + Silent SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr3:178919316G>C uc003fjk.2 + 4 958 c.801G>C c.(799-801)CTG>CTC p.L267L NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 267 PI3K-RBD. 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 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) AATATCCTCTGAGTCAGTATA 0.264 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.004672 0 3 28 TIGD2 166815 broad.mit.edu 37 4 90034354 90034354 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr4:90034354G>C uc003hsk.2 + 1 387 c.229G>C c.(229-231)GAG>CAG p.E77Q FAM13A_uc003hsh.1_5'Flank NM_145715 NP_663761 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 77 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) ATCAACATACGAGGAGCTTGA 0.363 NaN 0 0 0 0.010729 0 10 60 DNAH5 1767 broad.mit.edu 37 5 13753654 13753654 + Missense_Mutation SNP A A C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:13753654A>C uc003jfd.2 - 63 10602 c.10560T>G c.(10558-10560)GAT>GAG p.D3520E DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3520 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CCAACAGTACATCCCCTAAAA 0.343 NaN Kartagener_syndrome 0 0 0 0.004672 0 3 33 CDH10 1008 broad.mit.edu 37 5 24492938 24492938 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:24492938G>C uc003jgr.1 - 10 1944 c.1612C>G c.(1612-1614)CAG>GAG p.Q538E CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 538 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TCATTATCCTGTACTGTGAAG 0.348 NaN HNSCC(23;0.051) 0 0 0 0.001984 0 5 114 CDH6 1004 broad.mit.edu 37 5 31323023 31323023 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:31323023G>C uc003jhe.1 + 12 2307 c.1981G>C c.(1981-1983)GAC>CAC p.D661H NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 661 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 CAGTTACAACGACGAAGGTGG 0.488 NaN 0 0 0 0.010729 0 11 48 NR2F1 7025 broad.mit.edu 37 5 92923892 92923892 + Missense_Mutation SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:92923892A>G uc003kkj.2 + 2 2420 c.733A>G c.(733-735)ATC>GTC p.I245V NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 245 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) GGATCTGCAGATCACCGACCA 0.647 NaN 0 0 0 0.004656 0 19 85 IL17B 27190 broad.mit.edu 37 5 148753933 148753933 + Nonstop_Mutation SNP C C G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:148753933C>G uc003lqo.2 - 3 592 c.542G>C c.(541-543)TGA>TCA p.*181S NM_014443 NP_055258 Q9UHF5 IL17B_HUMAN interleukin 17B precursor 181 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGTGATTCAGAAGATGCA 0.587 NaN 0 0 0 0.000602 0 4 61 CSNK1A1 1452 broad.mit.edu 37 5 148904715 148904715 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:148904715C>T uc003lqx.1 - 3 730 c.250G>A c.(250-252)GAC>AAC p.D84N CSNK1A1_uc011dcc.1_5'UTR|CSNK1A1_uc003lqv.1_5'UTR|CSNK1A1_uc003lqw.1_Missense_Mutation_p.D84N|CSNK1A1_uc003lqy.1_Missense_Mutation_p.D84N|CSNK1A1_uc010jha.1_Missense_Mutation_p.D84N NM_001892 NP_001883 P48729 KC1A_HUMAN casein kinase 1, alpha 1 isoform 2 84 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein binding|protein serine/threonine kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) ACATTGTAGTCTTTTTCCTGA 0.358 NaN 0 0 0 0.001168 0 5 14 SERPINB9 5272 broad.mit.edu 37 6 2896393 2896393 + Missense_Mutation SNP T T C rs146337993 TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr6:2896393T>C uc003mug.2 - 3 321 c.200A>G c.(199-201)CAT>CGT p.H67R uc003mue.2_Intron NM_004155 NP_004146 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B, member 9 67 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.108) GAAAGCCCGATGAATGTCTTC 0.463 NaN 0 0 0 0.00278 0 18 75 HIST1H1T 3010 broad.mit.edu 37 6 26107884 26107884 + Silent SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr6:26107884A>G uc003ngj.2 - 1 481 c.438T>C c.(436-438)ACT>ACC p.T146T NM_005323 NP_005314 P22492 H1T_HUMAN histone cluster 1, H1t 146 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding ovary(2) 2 TGGTTTTAGCAGTCTTTGGTG 0.463 NaN 0 0 0 0.001168 0 6 52 KIFC1 3833 broad.mit.edu 37 6 33371659 33371659 + Missense_Mutation SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr6:33371659A>G uc003oef.3 + 6 959 c.509A>G c.(508-510)CAG>CGG p.Q170R KIFC1_uc011drf.1_Missense_Mutation_p.Q162R NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 170 Potential. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 CTTCAGGACCAGCTCAGAGAT 0.557 NaN 0 0 0 0.00308 0 6 96 HECW1 23072 broad.mit.edu 37 7 43532701 43532701 + Missense_Mutation SNP T T C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr7:43532701T>C uc003tid.1 + 19 3964 c.3359T>C c.(3358-3360)GTG>GCG p.V1120A HECW1_uc011kbi.1_Missense_Mutation_p.V1086A NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1120 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GACAAGATTGTGGCATTTCTT 0.463 NaN 0 0 0 0.004007 0 12 49 TAS2R40 259286 broad.mit.edu 37 7 142919393 142919393 + Missense_Mutation SNP G G T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr7:142919393G>T uc011ksx.1 + 1 222 c.222G>T c.(220-222)ATG>ATT p.M74I NM_176882 NP_795363 P59535 T2R40_HUMAN taste receptor, type 2, member 40 74 Helical; Name=2; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 Melanoma(164;0.059) AGATTTGGATGATGCTGGAGA 0.453 NaN 1 0 2.7689e-08 0.001984 3.06663e-08 7 87 C8orf86 389649 broad.mit.edu 37 8 38373959 38373959 + Silent SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr8:38373959C>T uc003xlx.1 - 2 412 c.387G>A c.(385-387)GTG>GTA p.V129V NM_207412 NP_997295 Q6ZUL3 CH086_HUMAN hypothetical protein LOC389649 129 0 AATGAGAGATCACTGTGGGCT 0.418 NaN 0 0 0 0.01441 0 35 113 C8orf86 389649 broad.mit.edu 37 8 38374031 38374031 + Splice_Site SNP C C G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr8:38374031C>G uc003xlx.1 - 2 341 c.316_splice c.e2-1 p.A106_splice NM_207412 NP_997295 Q6ZUL3 CH086_HUMAN hypothetical protein LOC389649 0 TCTCATAAGCCTAGAGACAGG 0.423 NaN 0 0 0 0.013537 0 10 68 RB1CC1 9821 broad.mit.edu 37 8 53573712 53573712 + Silent SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr8:53573712G>A uc003xre.3 - 10 2046 c.1488C>T c.(1486-1488)TAC>TAT p.Y496Y RB1CC1_uc003xrf.3_Silent_p.Y496Y NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 496 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CAGCTAAGCAGTACATCTGAG 0.363 NaN 0 0 0 0.003163 0 10 47 IL33 90865 broad.mit.edu 37 9 6251156 6251156 + Missense_Mutation SNP A A T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr9:6251156A>T uc003zjt.2 + 4 291 c.234A>T c.(232-234)AGA>AGT p.R78S IL33_uc011lmg.1_Missense_Mutation_p.R78S|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.R78S NM_033439 NP_254274 O95760 IL33_HUMAN interleukin 33 precursor 78 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity 0 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) AGCACAAAAGACATCTGGTAC 0.478 NaN 0 0 0 0.010504 0 18 55 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr9:35906559A>C uc003zyr.1 + 1 371 c.275A>C c.(274-276)CAC>CCC p.H92P LOC158376_uc003zys.1_5'Flank NM_001039792 NP_001034881 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane 0 caccaccaccacccccgccac 0.393 NaN 0 0 0 0.003163 0 5 13 PCSK5 5125 broad.mit.edu 37 9 78772065 78772065 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr9:78772065G>A uc004ajz.2 + 11 1955 c.1417G>A c.(1417-1419)GAC>AAC p.D473N PCSK5_uc004ajy.2_Missense_Mutation_p.D473N|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 473 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 GGAGAGCACAGACCGACAAAT 0.522 NaN 0 0 0 0.008291 0 11 84 OR13C8 138802 broad.mit.edu 37 9 107331818 107331818 + Missense_Mutation SNP G G T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr9:107331818G>T uc011lvo.1 + 1 370 c.370G>T c.(370-372)GTG>TTG p.V124L NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGACCGCTATGTGGCCATCTG 0.537 NaN 1 0 4.14922e-12 0.004007 4.69637e-12 13 47 TTF1 7270 broad.mit.edu 37 9 135277170 135277170 + Missense_Mutation SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr9:135277170C>A uc004cbl.2 - 2 1091 c.1039G>T c.(1039-1041)GTG>TTG p.V347L TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 347 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) GGCATGGCCACTGCCTCAAAT 0.483 NaN 1 0 2.56e-06 0.009096 2.69061e-06 4 107 CDR1 1038 broad.mit.edu 37 X 139866364 139866364 + Silent SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chrX:139866364A>G uc004fbg.1 - 1 360 c.168T>C c.(166-168)GAT>GAC p.D56D uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 56 23 X 6 AA approximate repeats.|9. 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CTTCCAGCAAATCCACGTCTT 0.438 NaN 0 0 0 0.004672 0 3 46 ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:150530506delG uc001eux.2 + 14 2499 c.2263delG c.(2263-2265)GGGfs p.G755fs ADAMTSL4_uc001euw.2_Frame_Shift_Del_p.G755fs|ADAMTSL4_uc009wlw.2_Frame_Shift_Del_p.G778fs|ADAMTSL4_uc010pcg.1_Frame_Shift_Del_p.G716fs|ADAMTSL4_uc009wlx.2_5'UTR NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 755 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 NaN NaN NaN NaN NaN NaN 7 248 --- --- KIF1C 10749 broad.mit.edu 37 17 4905382 4905382 + Frame_Shift_Del DEL G G - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:4905382delG uc002gan.1 + 6 718 c.392delG c.(391-393)AGTfs p.S131fs NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 131 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 TCTCGCGTTAGTGAGAACCAG 0.448 NaN NaN NaN NaN NaN NaN 33 115 --- --- SMCR7 125170 broad.mit.edu 37 17 18167412 18167412 + Frame_Shift_Del DEL C C - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:18167412delC uc002gst.2 + 4 910 c.699delC c.(697-699)TGCfs p.C233fs SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Frame_Shift_Del_p.C244fs NM_139162 NP_631901 Q96C03 SMCR7_HUMAN Smith-Magenis syndrome chromosome region, 233 integral to membrane protein binding 0 all_neural(463;0.228) TTGAGTTCTGCCCCCGTGGGA 0.706 NaN NaN NaN NaN NaN NaN 2 4 --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr3:55733470_55733472delTGG uc003dhr.1 - 16 3037_3039 c.2781_2783delCCA c.(2779-2784)CACCAT>CAT p.927_928HH>H ERC2_uc003dhq.1_RNA NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 927_928 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.389 NaN NaN NaN NaN NaN NaN 9 464 --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr4:146077123_146077125delCAG uc003ika.3 - 8 596_598 c.458_460delCTG c.(457-462)GCTGAT>GAT p.A153del OTUD4_uc003ijz.3_In_Frame_Del_p.A153del NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 218 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.34 NaN NaN NaN NaN NaN NaN 8 264 --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:140032593_140032594delGA uc003lgq.2 + 5 378_379 c.268_269delGA c.(268-270)GAGfs p.E90fs IK_uc011czk.1_Frame_Shift_Del_p.E90fs NM_006083 NP_006074 Q13123 RED_HUMAN RED protein 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.46 NaN NaN NaN NaN NaN NaN 7 50 --- --- SPRY4 81848 broad.mit.edu 37 5 141694361 141694363 + In_Frame_Del DEL TGC TGC - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:141694361_141694363delTGC uc003lml.2 - 2 570_572 c.311_313delGCA c.(310-315)AGCACA>ACA p.S104del SPRY4_uc010jgi.1_In_Frame_Del_p.S127del NM_001127496 NP_001120968 Q9C004 SPY4_HUMAN sprouty homolog 4 isoform 2 104 Poly-Ser. multicellular organismal development cytoplasm|ruffle membrane protein binding ovary(1)|lung(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGAGGATGTGCTGCTGCTGCT 0.66 NaN Testicular_Cancer_Familial_Clustering_of NaN NaN NaN NaN NaN 8 212 --- --- CDKN1A 1026 broad.mit.edu 37 6 36652009 36652010 + Frame_Shift_Ins INS - - G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 - G - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr6:36652009_36652010insG uc003omm.3 + 2 253_254 c.131_132insG c.(130-132)GAGfs p.E44fs CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.E78fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.E44fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.E44fs NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 44 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 TGCATCCAGGAGGCCCGTGAGC 0.658 NaN Multiple_Endocrine_Neoplasia_type_1 NaN NaN NaN NaN NaN 12 65 --- --- ACTB 60 broad.mit.edu 37 7 5567428 5567429 + Frame_Shift_Ins INS - - G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr7:5567428_5567429insG uc003sos.3 - 5 1114_1115 c.1078_1079insC c.(1078-1080)CAGfs p.Q360fs ACTB_uc003sor.3_Frame_Shift_Ins_p.Q238fs|ACTB_uc003sot.3_Frame_Shift_Ins_p.Q360fs|ACTB_uc003soq.3_Frame_Shift_Ins_p.Q238fs|ACTB_uc010ksy.2_Frame_Shift_Ins_p.Q238fs NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 360 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) GTCATACTCCTGCTTGCTGATC 0.55 NaN NaN NaN NaN NaN NaN 27 351 --- ---