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 pox qox pox_cutoff isArtifactMode oxoGCut ARHGEF15 22899 broad.mit.edu 37 17 8216453 8216453 + Missense_Mutation SNP G G A rs113540851 TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr17:8216453G>A ENST00000361926.3 + 3 925 c.815G>A c.(814-816)cGc>cAc p.R272H ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R272H NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 272 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 ACTGCTGAGCGCAAACTCCTG 0.632000 3 30 0 0 1 0 0 ANO10 55129 broad.mit.edu 37 3 43591240 43591240 + Missense_Mutation SNP T T C TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr3:43591240T>C ENST00000292246.3 - 11 1939 c.1769A>G c.(1768-1770)gAc>gGc p.D590G ANO10_ENST00000414522.2_Missense_Mutation_p.D590G|ANO10_ENST00000451430.2_Missense_Mutation_p.D479G|ANO10_ENST00000396091.3_Missense_Mutation_p.D524G|ANO10_ENST00000350459.4_Missense_Mutation_p.D400G NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 590 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 CAAAATGAGGTCTGCTTTTGA 0.383000 8 82 0 0 1 0 0 CCNB2 9133 broad.mit.edu 37 15 59406974 59406974 + Missense_Mutation SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr15:59406974C>T ENST00000288207.2 + 5 687 c.496C>T c.(496-498)Cgt>Tgt p.R166C CCNB2_ENST00000559622.1_Missense_Mutation_p.R85C NM_004701.3 NP_004692.1 O95067 CCNB2_HUMAN cyclin B2 166 cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle centrosome|cytosol|nucleus protein kinase binding kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 TGGACGCATGCGTGCCATCCT 0.428000 36 75 0 0 1 0 0 PCDHB4 0 broad.mit.edu 37 5 140503073 140503073 + Missense_Mutation SNP C C G TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr5:140503073C>G ENST00000194152.1 + 1 1493 c.1493C>G c.(1492-1494)cCc>cGc p.P498R NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 498 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCACCTGCCCCTCGCCTCC 0.687000 13 74 0 0 1 0 0 KCNK5 8645 broad.mit.edu 37 6 39159391 39159391 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr6:39159391G>A ENST00000359534.3 - 5 1113 c.775C>T c.(775-777)Cgg>Tgg p.R259W NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 259 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 CGCCGCCGCCGCTTCTTAATG 0.577000 18 93 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19962047 19962047 + Missense_Mutation SNP T T A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr3:19962047T>A ENST00000295824.9 - 2 963 c.802A>T c.(802-804)Att>Ttt p.I268F EFHB_ENST00000344838.4_Missense_Mutation_p.I138F|EFHB_ENST00000498089.1_5'UTR NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 268 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 CCAACTGGAATAACTTTTCCT 0.383000 5 57 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 65 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41160418 41160418 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr5:41160418G>A ENST00000263413.3 - 11 1774 c.1510C>T c.(1510-1512)Cgg>Tgg p.R504W C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R504W NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 504 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AGGTTGTTCCGTTTTGTCACT 0.522000 13 55 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135009218 135009218 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr10:135009218G>A ENST00000304613.3 + 10 1648 c.1627G>A c.(1627-1629)Gtc>Atc p.V543I KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 543 KIND 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CAAGTTCAGCGTCCCCCGCAA 0.687000 4 16 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46122422 46122422 + Missense_Mutation SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr19:46122422C>T ENST00000536630.1 - 15 1729 c.1591G>A c.(1591-1593)Gcc>Acc p.A531T EML2_ENST00000245925.3_Missense_Mutation_p.A384T|EML2_ENST00000589876.1_Missense_Mutation_p.A384T|EML2_ENST00000587152.1_Missense_Mutation_p.A585T NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 384 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) GGGTGTGTGGCCAGGCCCCAC 0.597000 3 17 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115304403 115304403 + Silent SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chrX:115304403C>T ENST00000371906.4 + 3 1060 c.870C>T c.(868-870)tgC>tgT p.C290C NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 290 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity p.C290C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TTAATAGCTGCGAAGTTATAG 0.483000 19 27 0 0 1 0 0 ABHD11 83451 broad.mit.edu 37 7 73150932 73150932 + Missense_Mutation SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr7:73150932C>T ENST00000222800.3 - 6 974 c.905G>A c.(904-906)cGc>cAc p.R302H ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000395147.4_Missense_Mutation_p.R245H|ABHD11_ENST00000437775.2_Missense_Mutation_p.R295H NM_148912.2 NP_683710.1 Q8NFV4 ABHDB_HUMAN abhydrolase domain containing 11 302 hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Lung NSC(55;0.0908)|all_lung(88;0.198) GTCCTGTGGGCGGTCAGCGTG 0.612000 8 76 0 0 1 0 0 GALNS 2588 broad.mit.edu 37 16 88901690 88901690 + Missense_Mutation SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr16:88901690C>T ENST00000268695.5 - 8 917 c.829G>A c.(829-831)Gtc>Atc p.V277I GALNS_ENST00000542788.1_Missense_Mutation_p.V202I NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 277 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) TTGTCCGCGACGTGCAGGTCT 0.567000 10 22 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 39 0 0 1 0 0 NDUFB10 4716 broad.mit.edu 37 16 2011190 2011190 + Missense_Mutation SNP A A G TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr16:2011190A>G ENST00000543683.2 + 2 249 c.167A>G c.(166-168)tAc>tGc p.Y56C NDUFB10_ENST00000268668.6_Missense_Mutation_p.Y56C|NDUFB10_ENST00000569148.1_Missense_Mutation_p.Y56C O96000 NDUBA_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa 56 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding lung(1)|urinary_tract(1) 2 NADH(DB00157) AACAGGTATTACTACTACCAC 0.493000 20 36 0 0 1 0 0 MMP19 4327 broad.mit.edu 37 12 56231394 56231394 + Missense_Mutation SNP G G C TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr12:56231394G>C ENST00000394182.1 - 3 274 c.275C>G c.(274-276)cCt>cGt p.P92R MMP19_ENST00000322569.4_Missense_Mutation_p.P378R|MMP19_ENST00000548629.1_Missense_Mutation_p.P355R|MMP19_ENST00000409200.3_Intron Q99542 MMP19_HUMAN matrix metallopeptidase 19 378 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 ATCCAGGTTAGGTTCTACCCT 0.463000 41 61 0 0 1 0 0 ETF1 2107 broad.mit.edu 37 5 137853306 137853306 + Missense_Mutation SNP G G T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr5:137853306G>T ENST00000499810.2 - 4 695 c.247C>A c.(247-249)Cct>Act p.P83T ETF1_ENST00000503014.1_Missense_Mutation_p.P102T|ETF1_ENST00000360541.5_Missense_Mutation_p.P116T|ETF1_ENST00000514005.1_5'UTR P62495 ERF1_HUMAN eukaryotic translation termination factor 1 116 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GGTTTGAAAGGTTCAAAGTCA 0.363000 7 76 8.12818e-05 8.41173e-05 1 1 0 UGT2B11 10720 broad.mit.edu 37 4 70080378 70080378 + Silent SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr4:70080378C>T ENST00000446444.1 - 1 71 c.63G>A c.(61-63)ggG>ggA p.G21G RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 21 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TTCCACAACTCCCAGAGCTAA 0.448000 90 68 0 0 1 0 0 ETV2 2116 broad.mit.edu 37 19 36134545 36134545 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr19:36134545G>A ENST00000379026.2 + 4 1128 c.689G>A c.(688-690)gGc>gAc p.G230D ETV2_ENST00000479824.1_Missense_Mutation_p.G109D|ETV2_ENST00000402764.2_Missense_Mutation_p.G202D|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000403402.1_Missense_Mutation_p.G202D B9EIN1 B9EIN1_HUMAN ets variant 2 202 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2) 2 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CATGCGGGTGGCACCACCTCT 0.677000 6 31 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5497027 5497027 + Silent SNP C C A rs113255666 TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr10:5497027C>A ENST00000355029.4 + 10 1285 c.1143C>A c.(1141-1143)atC>atA p.I381I NET1_ENST00000380359.3_Silent_p.I327I|NET1_ENST00000542715.1_Silent_p.I200I|NET1_ENST00000484741.1_3'UTR NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 381 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 ACCCCAGAATCGAAGCGAGCA 0.537000 14 69 7.93312e-07 8.40533e-07 1 1 0 KCNJ16 3773 broad.mit.edu 37 17 68128440 68128440 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr17:68128440G>A ENST00000585558.1 + 4 705 c.317G>A c.(316-318)cGc>cAc p.R106H KCNJ16_ENST00000586462.1_Missense_Mutation_p.R110H|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R71H Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 71 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) ACCAAGTGGCGCCATATGTTT 0.403000 24 61 0 0 1 0 0 RP11-419C5.2 0 broad.mit.edu 37 16 70010624 70010624 + Silent SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr16:70010624C>T ENST00000532298.1 - 7 653 c.654G>A c.(652-654)gcG>gcA p.A218A PDXDC2P_ENST00000531894.1_RNA breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 GCTCCGCTGCCGCCATTCTGA 0.512000 7 72 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61232706 61232706 + Missense_Mutation SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr18:61232706C>T ENST00000382768.1 + 6 734 c.734C>T c.(733-735)aCg>aTg p.T245M SERPINB12_ENST00000269491.1_Missense_Mutation_p.T225M Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 225 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity p.T225M(1) kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 AAGATGATGACGCAAAAAGGC 0.488000 13 64 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23397963 23397963 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chrX:23397963G>A ENST00000379361.4 + 2 1467 c.607G>A c.(607-609)Gtg>Atg p.V203M NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 203 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CAAAGACCGGGTGAAATCTGC 0.532000 15 31 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66384363 66384363 + Silent SNP G G C TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr1:66384363G>C ENST00000329654.4 + 3 313 c.126G>C c.(124-126)ggG>ggC p.G42G PDE4B_ENST00000371049.3_Silent_p.G42G NM_001037341.1 NP_001032418.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 42 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) TCTGGAGAGGGAGAAGGTGTT 0.468000 3 43 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 396793 396793 + Silent SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr9:396793C>T ENST00000432829.2 + 25 3091 c.2775C>T c.(2773-2775)agC>agT p.S925S DOCK8_ENST00000382329.1_Silent_p.S460S|DOCK8_ENST00000469391.1_Silent_p.S893S|DOCK8_ENST00000382331.1_Silent_p.S295S|DOCK8_ENST00000453981.1_Silent_p.S993S NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 993 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AGGTGAAAAGCATGGCCCAGC 0.468000 14 108 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121350802 121350802 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr3:121350802G>A ENST00000314583.3 - 14 1443 c.1352C>T c.(1351-1353)cCg>cTg p.P451L HCLS1_ENST00000428394.2_Missense_Mutation_p.P414L|HCLS1_ENST00000473883.1_5'UTR NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 451 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity p.P451L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) TACGTCGTCCGGATCAAAGGA 0.488000 10 146 0 0 1 0 0 CRHBP 1393 broad.mit.edu 37 5 76251513 76251513 + Silent SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr5:76251513C>T ENST00000274368.4 + 4 791 c.369C>T c.(367-369)ttC>ttT p.F123F CRHBP_ENST00000506501.1_Silent_p.F123F NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 123 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) GGGAGAAGTTCCCCAGTTCCC 0.453000 3 30 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20847208 20847208 + Silent SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr14:20847208G>A ENST00000262715.5 - 36 5224 c.5184C>T c.(5182-5184)tcC>tcT p.S1728S TEP1_ENST00000556935.1_Silent_p.S1620S|TEP1_ENST00000545983.1_Silent_p.S66S NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1728 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GTGTATCATCGGAGAGGAACA 0.557000 13 33 0 0 1 0 0 FUNDC2P2 0 broad.mit.edu 37 2 84517901 84517901 + RNA SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr2:84517901G>A ENST00000331369.5 + 0 95 GCGTAACCTCGCAGATCCCCT 0.622000 8 7 0 0 1 0 0 AC004381.6 0 broad.mit.edu 37 16 20838480 20838480 + Missense_Mutation SNP G G C TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr16:20838480G>C ENST00000261377.6 + 9 1131 c.922G>C c.(922-924)Gtg>Ctg p.V308L AC004381.6_ENST00000564274.1_Missense_Mutation_p.V308L|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.V308L NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 TGCTGTGTTAGTGGGCCACTC 0.413000 4 109 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69696453 69696453 + Silent SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr4:69696453C>T ENST00000265403.7 + 6 1470 c.1443C>T c.(1441-1443)aaC>aaT p.N481N UGT2B10_ENST00000458688.2_Silent_p.N397N NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 481 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 CAGCCCACAACCTCACCTGGT 0.478000 40 115 0 0 1 0 0 MOS 4342 broad.mit.edu 37 8 57026322 57026322 + Missense_Mutation SNP C C A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr8:57026322C>A ENST00000311923.1 - 1 219 c.220G>T c.(220-222)Gtg>Ttg p.V74L NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 74 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) GCCTTGTACACCGAGCCAAAC 0.627000 12 117 9.05144e-12 9.94541e-12 1 1 0 MASP1 5648 broad.mit.edu 37 3 186954108 186954108 + Silent SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr3:186954108G>A ENST00000296280.6 - 11 1776 c.1551C>T c.(1549-1551)acC>acT p.T517T MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.T404T NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 515 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CCAGGTAGACGGTGACATGCT 0.582000 11 41 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22847907 22847907 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr19:22847907G>A ENST00000456783.2 + 4 1680 c.1436G>A c.(1435-1437)tGt>tAt p.C479Y NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) CCCTACAAGTGTGAAGAATGT 0.378000 5 64 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46541978 46541978 + Missense_Mutation SNP C C G TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr13:46541978C>G ENST00000242848.4 - 15 4330 c.3982G>C c.(3982-3984)Gat>Cat p.D1328H ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1328H|ZC3H13_ENST00000378921.2_Missense_Mutation_p.D284H Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1328 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) caatctttatcagcatctcgg 0.498000 5 50 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83350235 83350235 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr15:83350235G>A ENST00000261722.3 - 5 665 c.458C>T c.(457-459)gCc>gTc p.A153V AP3B2_ENST00000535359.1_Missense_Mutation_p.A153V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.A121V NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 153 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GTCCGAGGCGGCTTCCTTGAT 0.582000 3 38 0 0 1 0 0 UBE2S 27338 broad.mit.edu 37 19 55918270 55918270 + Missense_Mutation SNP T T C TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr19:55918270T>C ENST00000264552.9 - 2 251 c.64A>G c.(64-66)Aca>Gca p.T22A UBE2S_ENST00000589978.1_Missense_Mutation_p.T22A NM_014501.2 NP_055316.2 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S 22 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity lung(1) 1 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) GCGGTCAGTGTCGTCACCTCC 0.597000 5 44 0 0 1 0 0 NME5 8382 broad.mit.edu 37 5 137451449 137451449 + Nonsense_Mutation SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr5:137451449C>T ENST00000265191.2 - 6 609 c.560G>A c.(559-561)tGg>tAg p.W187* NM_003551.2 NP_003542.1 P56597 NDK5_HUMAN NME/NM23 family member 5 187 anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process ATP binding|nucleoside diphosphate kinase activity|protein binding kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATCAGCTAGCCAAATCTATGG 0.294000 4 19 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74440153 74440153 + Silent SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr6:74440153C>T ENST00000437994.2 + 4 794 c.363C>T c.(361-363)cgC>cgT p.R121R CD109_ENST00000422508.2_Intron|CD109_ENST00000287097.5_Silent_p.R121R NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 121 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATAGTACCCGCTTATCATTTG 0.418000 10 61 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17739683 17739683 + Silent SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chrX:17739683G>A ENST00000380060.3 + 4 1313 c.975G>A c.(973-975)ccG>ccA p.P325P NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.P169P NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 325 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) TACCTCTCCCGACGCCAGAGG 0.458000 4 70 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580296 7580296 + Silent SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr6:7580296G>A ENST00000379802.3 + 23 4214 c.3873G>A c.(3871-3873)ctG>ctA p.L1291L DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1291 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGCAGCATCTGGAGATAGAAC 0.537000 4 96 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7034683 7034683 + Nonsense_Mutation SNP C C A rs146460281 TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr18:7034683C>A ENST00000389658.3 - 14 1939 c.1846G>T c.(1846-1848)Gga>Tga p.G616* NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 616 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAGTGAGTCCGTTTCCCTAA 0.328000 6 48 0.0293803 0.0293803 1 1 0 TRIM69 0 broad.mit.edu 37 15 45059579 45059579 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr15:45059579G>A ENST00000558173.1 + 5 5245 c.500G>A c.(499-501)aGa>aAa p.R167K TRIM69_ENST00000558329.1_Missense_Mutation_p.R150K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R134K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R371K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R167K|TRIM69_ENST00000338264.4_Missense_Mutation_p.R212K|TRIM69_ENST00000559390.1_Missense_Mutation_p.R371K Q86WT6 TRI69_HUMAN tripartite motif containing 69 371 apoptosis nuclear speck zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) CTGGGCTCAAGAGGCTTCACC 0.478000 15 83 0 0 1 0 0 PRR19 284338 broad.mit.edu 37 19 42813821 42813821 + Missense_Mutation SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr19:42813821C>T ENST00000499536.2 + 1 896 c.85C>T c.(85-87)Cgt>Tgt p.R29C PRR19_ENST00000598490.1_Missense_Mutation_p.R29C|PRR19_ENST00000341747.3_Missense_Mutation_p.R29C A6NJB7 PRR19_HUMAN proline rich 19 29 NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) TAGGCGGGAACGTAACAAGGC 0.602000 29 60 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 396954 396954 + Silent SNP C C G TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr11:396954C>G ENST00000331563.2 + 3 529 c.453C>G c.(451-453)gcC>gcG p.A151A PKP3_ENST00000530695.1_3'UTR NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 151 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACGGGGGTGCCCAGCCCACCC 0.706000 13 11 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17919012 17919012 + Silent SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr19:17919012C>T ENST00000318683.6 + 2 543 c.396C>T c.(394-396)cgC>cgT p.R132R B3GNT3_ENST00000595387.1_Silent_p.R132R NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 132 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 CGTGGGGCCGCGAGCGCAAGG 0.682000 7 32 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47879947 47879947 + Missense_Mutation SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr20:47879947C>T ENST00000396105.1 - 6 2471 c.2225G>A c.(2224-2226)gGt>gAt p.G742D ZNFX1_ENST00000371754.4_Missense_Mutation_p.G742D|ZNFX1_ENST00000371752.1_Missense_Mutation_p.G742D NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 742 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCGTAGGACACCACGCATGGT 0.522000 4 20 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15300085 15300085 + Splice_Site SNP G G A rs144214159 TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr19:15300085G>A ENST00000263388.2 - 7 1266 c.1192_splice c.e7+1 p.I397_splice NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 397 EGF-like 10; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) TCCCCTCACCGATAGAGCACT 0.637000 31 37 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39551746 39551746 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr17:39551746G>A ENST00000251645.2 - 4 770 c.718C>T c.(718-720)Cgc>Tgc p.R240C NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 240 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) ACTTCCCTGCGGTTGGTTTCC 0.627000 8 62 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3229596 3229596 + Silent SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chrX:3229596G>A ENST00000217939.6 - 7 6802 c.6648C>T c.(6646-6648)gcC>gcT p.A2216A NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2216 Ig-like C2-type 6. extracellular region p.A2216>?(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGTAATCTCCGGCATCTTTGT 0.453000 75 20 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97527357 97527357 + Missense_Mutation SNP G G C TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr2:97527357G>C ENST00000305476.5 - 14 1763 c.1631C>G c.(1630-1632)tCg>tGg p.S544W NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 544 PSI. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 TGAAGTGTCCGAGGTCATCAC 0.562000 30 72 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 4 124 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7802839 7802839 + Missense_Mutation SNP G G T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr17:7802839G>T ENST00000380358.4 + 15 2700 c.2699G>T c.(2698-2700)gGc>gTc p.G900V CHD3_ENST00000358181.4_Missense_Mutation_p.G841V|CHD3_ENST00000330494.7_Missense_Mutation_p.G841V NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 841 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) ATCAAAGGGGGCAAGAAAGCT 0.463000 15 66 2.32078e-09 2.48855e-09 1 1 0 NUP188 23511 broad.mit.edu 37 9 131743608 131743608 + Silent SNP G G T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr9:131743608G>T ENST00000372577.2 + 15 1476 c.1455G>T c.(1453-1455)gtG>gtT p.V485V NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 485 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 CTCATGATGTGATCTCCCATG 0.398000 4 153 2.56e-06 2.68047e-06 1 1 0 TTN 7273 broad.mit.edu 37 2 179414986 179414986 + Missense_Mutation SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr2:179414986C>T ENST00000589042.1 - 337 91803 c.91579G>A c.(91579-91581)Gag>Aag p.E30527K TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27959K|TTN_ENST00000342175.6_Missense_Mutation_p.E21654K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28886K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21587K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E21462K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28886 Fibronectin type-III 122. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGCCAAACTCTACTATTGGT 0.348000 5 56 0 0 1 0 0 FBXO28 23219 broad.mit.edu 37 1 224318220 224318220 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr1:224318220G>A ENST00000366862.5 + 2 357 c.314G>A c.(313-315)gGa>gAa p.G105E FBXO28_ENST00000424254.2_Missense_Mutation_p.G105E NM_015176.3 NP_055991.1 Q9NVF7 FBX28_HUMAN F-box protein 28 105 F-box. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1) 10 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) TTGAATCAGGGATTTCTGAAA 0.373000 4 46 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93605197 93605197 + Missense_Mutation SNP T T A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr3:93605197T>A ENST00000394236.3 - 11 1622 c.1306A>T c.(1306-1308)Agt>Tgt p.S436C PROS1_ENST00000407433.1_Missense_Mutation_p.S305C NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 436 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) ATGAGTTCACTTTCCACTTTC 0.383000 15 110 0 0 1 0 0 HPS3 84343 broad.mit.edu 37 3 148857949 148857949 + Missense_Mutation SNP T T C TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr3:148857949T>C ENST00000296051.2 + 2 516 c.376T>C c.(376-378)Tac>Cac p.Y126H HPS3_ENST00000460120.1_Intron NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 126 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AGACCAGATGTACATTATTGA 0.448000 Hermansky-Pudlak syndrome 22 125 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30202490 30202490 + Missense_Mutation SNP A A C TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr22:30202490A>C ENST00000397771.2 - 12 1246 c.1069T>G c.(1069-1071)Ttg>Gtg p.L357V ASCC2_ENST00000307790.3_Missense_Mutation_p.L357V|ASCC2_ENST00000542393.1_Missense_Mutation_p.L281V|ASCC2_ENST00000478812.1_5'UTR Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) TCCTGCAGCAAGGAGCTGAAG 0.547000 28 22 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22929856 22929856 + Missense_Mutation SNP T T C TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr15:22929856T>C ENST00000313077.7 + 6 655 c.530T>C c.(529-531)aTg>aCg p.M177T CYFIP1_ENST00000560848.1_Missense_Mutation_p.M177T NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 177 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CTGAAGAACATGAAGTGCAGT 0.577000 7 44 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185902932 185902932 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr1:185902932G>A ENST00000271588.4 + 11 2033 c.1804G>A c.(1804-1806)Gct>Act p.A602T HMCN1_ENST00000367492.2_Missense_Mutation_p.A602T NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 602 Ig-like C2-type 2. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATCATCAGCCGCTTCAGTTTT 0.403000 17 78 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16959698 16959698 + RNA SNP G G A rs9730434 by1000genomes TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr1:16959698G>A ENST00000412962.1 - 0 74 p.H56H(4) GGTCCTTCTCGTGGAGCACCT 0.657000 5 23 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40584626 40584626 + Missense_Mutation SNP C C A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr21:40584626C>A ENST00000342449.3 - 34 3944 c.3866G>T c.(3865-3867)aGt>aTt p.S1289I BRWD1_ENST00000333229.2_Missense_Mutation_p.S1289I|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1289I NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1289 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) AGGAAGATCACTATCATCCTA 0.294000 12 49 0.000151284 0.000154762 1 1 0 OR4C16 219428 broad.mit.edu 37 11 55340437 55340437 + Silent SNP T T A rs138855448 byFrequency TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr11:55340437T>A ENST00000314634.3 + 1 834 c.834T>A c.(832-834)tcT>tcA p.S278S NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TTGGAACATCTTTTCTCAACC 0.378000 10 65 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74424521 74424521 + Missense_Mutation SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr11:74424521C>T ENST00000376332.3 - 3 695 c.199G>A c.(199-201)Gcc>Acc p.A67T CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.A67T NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 67 VWFC 1. cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) CTCACATGGGCGCCCTGAAGG 0.582000 5 34 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27948936 27948936 + Missense_Mutation SNP G G T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr9:27948936G>T ENST00000379992.2 - 6 2183 c.1734C>A c.(1732-1734)gaC>gaA p.D578E LINGO2_ENST00000308675.3_Missense_Mutation_p.D578E NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 578 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CATACTCAAGGTCAATGCTGT 0.478000 15 63 1.05317e-09 1.14308e-09 1 1 0 CAD 790 broad.mit.edu 37 2 27455407 27455407 + Nonsense_Mutation SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr2:27455407C>T ENST00000264705.4 + 18 2899 c.2737C>T c.(2737-2739)Cag>Tag p.Q913* CAD_ENST00000403525.1_Nonsense_Mutation_p.Q850*|CAD_ENST00000464159.1_3'UTR NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 913 CPSase (Carbamoyl-phosphate synthase).|CPSase A. '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 NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GTGGCCAGCCCAGACAAATTA 0.522000 31 38 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063011 9063011 + Silent SNP C C T TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr19:9063011C>T ENST00000397910.4 - 3 24638 c.24435G>A c.(24433-24435)gtG>gtA p.V8145V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8147 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CACCAGTGGGCACTCCAGAAA 0.542000 12 79 0 0 1 0 0 IL17RB 55540 broad.mit.edu 37 3 53889347 53889347 + Frame_Shift_Del DEL A A - TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr3:53889347delA ENST00000288167.3 + 6 517 c.508delA c.(508-510)aafs p.K172fs NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 172 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) AATGAAATATAAAAAAAAGTG 0.383 8 199 --- --- --- --- ZNF876P 0 broad.mit.edu 37 4 217874 217874 + RNA DEL G G - TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr4:217874delG ENST00000356347.3 + 0 172 NR_027481.1 ggctgcttcagggagcacagc 0.537 7 30 --- --- --- --- HGSNAT 138050 broad.mit.edu 37 8 43025733 43025733 + Frame_Shift_Del DEL G G - TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr8:43025733delG ENST00000458501.2 + 7 723 c.723delG c.(721-723)ctfs p.L241fs HGSNAT_ENST00000379644.4_Frame_Shift_Del_p.L213fs Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 241 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TGAAGGAGCTGGGATCTCCCA 0.473 2 4 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61693702 61693703 + Frame_Shift_Ins INS - - A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr8:61693702_61693703insA ENST00000423902.2 + 3 2288_2289 c.1809_1810insA c.(1807-1812)aaaccafs p.P604fs CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Frame_Shift_Ins_p.P604fs NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 604 Lys-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAAAGAAAAACAACCACATTGT 0.431 6 6 --- --- --- --- EID3 493861 broad.mit.edu 37 12 104697887 104697887 + Frame_Shift_Del DEL G G - TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr12:104697887delG ENST00000527879.1 + 1 371 c.175delG c.(175-177)tgfs p.V59fs TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000354940.6_Intron NM_001008394.2 NP_001008395.1 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 3 59 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 GGAGGACATCGTGAGCTCGGC 0.617 12 52 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 2 4 --- --- --- --- RP11-26F2.1 0 broad.mit.edu 37 15 23131706 23131706 + RNA DEL A A - TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr15:23131706delA ENST00000560053.1 - 0 129 GATATTCTCCAATGTCATTTT 0.259 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578485 7578485 + Frame_Shift_Del DEL A A - TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr17:7578485delA ENST00000420246.2 - 5 577 c.445delT c.(445-447)ccfs p.S149fs TP53_ENST00000455263.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S149fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S149fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 149 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) GGGGGTGTGGAATCAACCCAC 0.602 111 """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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) 28 12 --- --- --- --- TRAPPC8 22878 broad.mit.edu 37 18 29446818 29446820 + In_Frame_Del DEL GAC GAC - TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr18:29446818_29446820delGAC ENST00000283351.4 - 18 2917_2919 c.2582_2584delGTC c.(2581-2586)tac>t p.CH861del TRAPPC8_ENST00000582539.1_In_Frame_Del_p.CH807del NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 861 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTACCTGTGTGACATCCGGGAAG 0.384 32 73 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899416 38899416 + Frame_Shift_Del DEL G G - TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8483a81-abcb-43d1-abea-e4c00743c928 8ee5606a-20d7-43a6-a199-d18c295e4b1d g.chr19:38899416delG ENST00000252530.5 + 8 963 c.944delG c.(943-945)cgfs p.R315fs FAM98C_ENST00000343358.7_Frame_Shift_Del_p.R233fs|FAM98C_ENST00000588262.1_Frame_Shift_Del_p.P181fs NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 315 p.R315L(1) endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTTCCAGACCGGGGGGGCCGC 0.562 14 62 --- --- --- ---