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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample CSMD2 114784 broad.mit.edu 37 1 34003036 34003036 + Splice_Site SNP C C T TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr1:34003036C>T ENST00000373381.4 - 61 9981 c.9805G>A c.(9805-9807)Gat>Aat p.D3269N NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3247 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GACCTCTCACCTATGCAGCTG 0.582 5 152 --- --- --- --- COL9A2 1298 broad.mit.edu 37 1 40776809 40776809 + Missense_Mutation SNP C C A TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr1:40776809C>A ENST00000372748.3 - 12 682 c.586G>T c.(586-588)Ggc>Tgc p.G196C NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 196 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CCGCGTTTGCCCGCATGCCCC 0.617 14 58 --- --- --- --- PIK3R3 8503 broad.mit.edu 37 1 46527681 46527681 + Silent SNP C C T TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr1:46527681C>T ENST00000262741.5 - 6 1373 c.684G>A c.(682-684)gaG>gaA p.E228E PIK3R3_ENST00000354242.4_Silent_p.E228E|PIK3R3_ENST00000372006.1_Silent_p.E228E|PIK3R3_ENST00000540385.1_Silent_p.E274E|PIK3R3_ENST00000423209.1_Silent_p.E228E|PIK3R3_ENST00000340332.6_Silent_p.E192E|PIK3R3_ENST00000420542.1_Silent_p.E228E NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 228 insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) TGTGACACTGCTCTTCAAATA 0.358 17 123 --- --- --- --- STIL 6491 broad.mit.edu 37 1 47755173 47755173 + Nonsense_Mutation SNP A A T TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr1:47755173A>T ENST00000360380.3 - 10 1320 c.957T>A c.(955-957)tgT>tgA p.C319* STIL_ENST00000371877.3_Nonsense_Mutation_p.C319*|STIL_ENST00000396221.2_Nonsense_Mutation_p.C319*|STIL_ENST00000337817.5_Nonsense_Mutation_p.C319*|STIL_ENST00000243182.6_Nonsense_Mutation_p.C319* NM_001282936.1 NP_001269865.1 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 319 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TCTTGCCATCACAAGGGAAGC 0.353 9 32 --- --- --- --- FCRL4 83417 broad.mit.edu 37 1 157559034 157559034 + Silent SNP G G A TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr1:157559034G>A ENST00000271532.1 - 3 402 c.267C>T c.(265-267)ggC>ggT p.G89G FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 89 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity p.G89G(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TTCGTGGGGAGCCCCGGGCCT 0.498 5 81 --- --- --- --- ITSN2 50618 broad.mit.edu 37 2 24432816 24432816 + Missense_Mutation SNP C C A TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr2:24432816C>A ENST00000355123.4 - 35 4787 c.4344G>T c.(4342-4344)aaG>aaT p.K1448N ITSN2_ENST00000361999.3_Missense_Mutation_p.K1421N NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1448 PH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGTGCAGTTCCTTGTTGCTCT 0.453 4 192 --- --- --- --- CTNNB1 1499 broad.mit.edu 37 3 41268787 41268787 + Missense_Mutation SNP G G A TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr3:41268787G>A ENST00000349496.5 + 7 1305 c.1025G>A c.(1024-1026)aGa>aAa p.R342K CTNNB1_ENST00000396183.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R342K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R335K NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 342 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) ACCACAAGCAGAGTGCTGAAG 0.408 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 9 70 --- --- --- --- SFMBT1 51460 broad.mit.edu 37 3 52939178 52939178 + Missense_Mutation SNP C C T TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr3:52939178C>T ENST00000394752.3 - 21 2957 c.2575G>A c.(2575-2577)Gct>Act p.A859T SFMBT1_ENST00000296295.6_Missense_Mutation_p.A816T|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A859T|SFMBT1_ENST00000394750.1_Missense_Mutation_p.A859T NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 859 SAM. regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) TCATAAAAAGCAAACTTGATC 0.453 11 52 --- --- --- --- GPR87 53836 broad.mit.edu 37 3 151012973 151012973 + Missense_Mutation SNP G G T TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr3:151012973G>T ENST00000260843.4 - 3 525 c.61C>A c.(61-63)Cac>Aac p.H21N MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 21 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCTGAATTGTGACTCTCTTGG 0.488 15 64 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1016153 1016153 + Missense_Mutation SNP C C T TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr4:1016153C>T ENST00000398484.2 + 4 822 c.242C>T c.(241-243)cCg>cTg p.P81L FGFRL1_ENST00000510644.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.P81L Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 81 Ig-like C2-type 1. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGCGTGCTGCCGCAGGGGCTG 0.687 7 22 --- --- --- --- PCDHB12 56124 broad.mit.edu 37 5 140589806 140589806 + Missense_Mutation SNP G G A TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr5:140589806G>A ENST00000239450.2 + 1 1516 c.1327G>A c.(1327-1329)Gac>Aac p.D443N PCDHB12_ENST00000541609.1_Missense_Mutation_p.D106N NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 443 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGGTCTCCGACGTCAATGA 0.602 15 123 --- --- --- --- LHFPL5 222662 broad.mit.edu 37 6 35773472 35773472 + Missense_Mutation SNP G G A TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr6:35773472G>A ENST00000360215.1 + 1 402 c.25G>A c.(25-27)Gag>Aag p.E9K LHFPL5_ENST00000373853.1_Missense_Mutation_p.E9K NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 9 integral to membrane endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 GCCGGCCCAGGAGGCAGCCAA 0.612 13 75 --- --- --- --- MOCS1 4337 broad.mit.edu 37 6 39877613 39877613 + Silent SNP C C A TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr6:39877613C>A ENST00000373186.4 - 8 1205 c.1068G>T c.(1066-1068)ggG>ggT p.G356G MOCS1_ENST00000425303.2_Silent_p.G356G|MOCS1_ENST00000373175.4_Silent_p.G327G|MOCS1_ENST00000340692.5_Silent_p.G356G|MOCS1_ENST00000308559.7_Silent_p.G356G|MOCS1_ENST00000373188.2_Silent_p.G356G|MOCS1_ENST00000373195.3_Silent_p.G269G|MOCS1_ENST00000432280.2_Silent_p.G327G NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 356 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) CCACAGCAGCCCCAATGATTC 0.617 30 108 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 2832109 2832109 + Silent SNP G G A TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr8:2832109G>A ENST00000520002.1 - 57 9162 c.8607C>T c.(8605-8607)gcC>gcT p.A2869A CSMD1_ENST00000537824.1_Silent_p.A2868A|CSMD1_ENST00000400186.3_Silent_p.A2811A|CSMD1_ENST00000602723.1_Silent_p.A2811A|CSMD1_ENST00000542608.1_Silent_p.A2810A|CSMD1_ENST00000602557.1_Silent_p.A2869A Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2869 Sushi 21. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAGTGAGGACGGCGTTGGCAG 0.507 3 15 --- --- --- --- ZNF623 9831 broad.mit.edu 37 8 144732272 144732272 + Missense_Mutation SNP G G T TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr8:144732272G>T ENST00000501748.2 + 1 319 c.230G>T c.(229-231)gGc>gTc p.G77V ZNF623_ENST00000526926.1_Missense_Mutation_p.G37V|ZNF623_ENST00000458270.2_Missense_Mutation_p.G37V NM_014789.3 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 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;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAGGACAGGGGCTGCAAGCAG 0.547 33 73 --- --- --- --- PLEKHA5 54477 broad.mit.edu 37 12 19436440 19436440 + Nonsense_Mutation SNP C C T TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr12:19436440C>T ENST00000538714.1 + 11 1526 c.1522C>T c.(1522-1524)Cag>Tag p.Q508* PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.Q266*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.Q514* NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 508 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) CGAATGGCAGCAGCGTCAGTT 0.478 26 93 --- --- --- --- FLT3 2322 broad.mit.edu 37 13 28608023 28608023 + Splice_Site SNP C C G TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr13:28608023C>G ENST00000380982.4 - 15 2024 c.e15+1 FLT3_ENST00000537084.1_Splice_Site|FLT3_ENST00000241453.7_Splice_Site P36888 FLT3_HUMAN fms-related tyrosine kinase 3 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CTATACTGTACCTTTCAGCAT 0.433 """Mis, O""" """AML, ALL""" 31 101 --- --- --- --- PRKD1 5587 broad.mit.edu 37 14 30068924 30068924 + Missense_Mutation SNP T T C TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr14:30068924T>C ENST00000331968.5 - 14 2234 c.2005A>G c.(2005-2007)Atg>Gtg p.M669V PRKD1_ENST00000415220.2_Missense_Mutation_p.M677V NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 669 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GACAAGATCATTTCCAGCATG 0.378 5 76 --- --- --- --- DUOX2 50506 broad.mit.edu 37 15 45399594 45399594 + Missense_Mutation SNP T T C TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr15:45399594T>C ENST00000389039.6 - 14 2027 c.1642A>G c.(1642-1644)Atc>Gtc p.I548V DUOX2_ENST00000603300.1_Missense_Mutation_p.I548V Q9NRD8 DUOX2_HUMAN dual oxidase 2 548 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TCAATGTTGATAACAGCGACC 0.522 34 100 --- --- --- --- TRIP4 9325 broad.mit.edu 37 15 64706363 64706363 + Missense_Mutation SNP C C T TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr15:64706363C>T ENST00000261884.3 + 8 1183 c.1123C>T c.(1123-1125)Cct>Tct p.P375S NM_016213.4 NP_057297.2 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 375 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 TTCTGAAGAGCCTTTGGGAGT 0.448 8 67 --- --- --- --- CEACAM7 1087 broad.mit.edu 37 19 42187829 42187829 + Missense_Mutation SNP T T C TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr19:42187829T>C ENST00000006724.3 - 3 794 c.593A>G c.(592-594)aAc>aGc p.N198S CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N198S|CEACAM7_ENST00000602225.1_Intron NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 198 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) GAGGGTCCTGTTGTCAGTGGA 0.527 15 144 --- --- --- --- DPRX 503834 broad.mit.edu 37 19 54137875 54137875 + Missense_Mutation SNP A A G TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr19:54137875A>G ENST00000376650.1 + 2 170 c.119A>G c.(118-120)tAc>tGc p.Y40C NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 40 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) GAGAACCCATACCCAAACCCC 0.443 15 90 --- --- --- --- MCM5 4174 broad.mit.edu 37 22 35811928 35811928 + Missense_Mutation SNP C C T TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr22:35811928C>T ENST00000216122.4 + 10 1464 c.1310C>T c.(1309-1311)gCc>gTc p.A437V MCM5_ENST00000382011.5_Missense_Mutation_p.A394V|MCM5_ENST00000465557.1_3'UTR NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 437 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 ATGGTCCTGGCCGATGGTGGG 0.577 5 380 --- --- --- --- NRXN1 9378 broad.mit.edu 37 2 50765580 50765580 + Frame_Shift_Del DEL G G - TCGA-KK-A6DY-01A-12D-A30X-08 TCGA-KK-A6DY-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ee8074-9dce-4718-bedf-7f58f009bffb 0a005527-1b2e-4204-8474-df49da92cb18 g.chr2:50765580delG ENST00000404971.1 - 11 3413 c.2074delC c.(2074-2076)caafs p.Q692fs NRXN1_ENST00000406316.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.Q644fs NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 652 EGF-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.Q693K(2)|p.Q652K(2)|p.Q692K(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TCTTTGCTTTGGCCATCGATG 0.507 32 338 --- --- --- ---