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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KLK8 11202 broad.mit.edu 37 19 51499342 51499342 + Missense_Mutation SNP G C C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:51499342G>C uc002puq.1 - 5 1077 c.891C>G c.(889-891)atC>atG p.I297M KLK8_uc002pur.1_Missense_Mutation_p.I252M|KLK8_uc002pus.1_Missense_Mutation_p.I111M|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Missense_Mutation_p.I252M|KLK8_uc002puv.1_Non-coding_Transcript NM_144505 NP_653088 O60259 KLK8_HUMAN Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA. 252 cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) TGATCTTCTTGATCCAGTCCA 0.522000 105 23 0 0 0.003954 0 0 KLK8 11202 broad.mit.edu 37 19 51499264 51499264 + Splice_Site SNP G A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:51499264G>A uc002puq.1 - 6 1155 c.969_splice c.e6+1 KLK8_uc002pur.1_Splice_Site|KLK8_uc002pus.1_Splice_Site|KLK8_uc002put.1_Splice_Site|KLK8_uc002puu.1_Splice_Site|KLK8_uc002puv.1_Splice_Site NM_144505 NP_653088 O60259 KLK8_HUMAN Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) GACAGGCAAGGAACCAGAGAG 0.522000 86 32 0 0 0.002836 0 0 FAT4 79633 broad.mit.edu 37 4 126239466 126239466 + Missense_Mutation SNP C G G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr4:126239466C>G uc003ifj.4 + 0 1900 c.1900C>G c.(1900-1902)Ctg>Gtg p.L634V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 634 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTCCTTCCGTCTGGATCCTGT 0.557000 21 9 0 0 0.004482 0 0 WBP11 51729 broad.mit.edu 37 12 14947999 14947999 + Missense_Mutation SNP C T T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr12:14947999C>T uc001rci.3 - 5 588 c.427G>A c.(427-429)Gat>Aat p.D143N NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN Homo sapiens WW domain binding protein 11 (WBP11), mRNA. 143 Pro-rich. RNA splicing|mRNA processing|rRNA processing cytoplasm WW domain binding|single-stranded DNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 TGTGGCATATCTGGCAAAGGA 0.428000 220 19 0 0 0.006122 0 0 NDST1 3340 broad.mit.edu 37 5 149900988 149900988 + Missense_Mutation SNP G T T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr5:149900988G>T uc003lsk.4 + 1 674 c.172G>T c.(172-174)Gac>Tac p.D58Y NDST1_uc011dcj.2_Missense_Mutation_p.D58Y|NDST1_uc003lsl.3_Missense_Mutation_p.D58Y NM_001543 NP_001534 P52848 NDST1_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA. 58 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGACTGCGGGGACCCGCCGCC 0.652000 40 12 5.50884e-06 7.24718e-05 0.001368 1 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325354 47325354 + RNA SNP G A A rs4660360 by1000genomes TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr1:47325354G>A uc001cqo.1 - 8 c.1214C>T Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA. CATCTGGAAAGGTAATGGGTT 0.438000 66 7 0 0 0.000673 0 0 KCTD20 222658 broad.mit.edu 37 6 36446928 36446928 + Missense_Mutation SNP C A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr6:36446928C>A uc003ome.3 + 3 856 c.465C>A c.(463-465)ttC>ttA p.F155L KCTD20_uc011dtn.2_5'UTR|KCTD20_uc010jwk.3_Intron|KCTD20_uc011dto.2_Intron|KCTD20_uc011dtm.2_Missense_Mutation_p.F10L NM_173562 NP_775833 Q7Z5Y7 KCD20_HUMAN Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA. 155 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1) 15 AGTACAACTTCACTCGGCCCA 0.433000 41 22 7.33532e-06 9.44024e-05 0.003954 1 0 ZNF45 7596 broad.mit.edu 37 19 44423036 44423036 + Missense_Mutation SNP C G G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:44423036C>G uc002oxu.2 - 2 320 c.221G>C c.(220-222)aGa>aCa p.R74T ZNF45_uc002oxw.2_Missense_Mutation_p.R74T NM_003425 NP_003416 Q02386 ZNF45_HUMAN Homo sapiens zinc finger protein 45 (ZNF45), mRNA. 74 KRAB. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q73K(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 GGAGTTATCTCTCTGGGTTGC 0.493000 36 11 0 0 0.001855 0 0 RPL13AP6 644511 broad.mit.edu 37 10 112696573 112696573 + Missense_Mutation SNP T C C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr10:112696573T>C uc010qrh.1 - 0 441 c.419A>G c.(418-420)cAc>cGc p.H140R SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA. p.H140R(2) GTGAGCCAGGTGCCCCAGATA 0.537000 0 2 0 0 0.004672 0 0 DSCAM 1826 broad.mit.edu 37 21 41455872 41455872 + Silent SNP A C C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr21:41455872A>C uc002yyq.1 - 23 4646 c.4194T>G c.(4192-4194)tcT>tcG p.S1398S DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1398 Fibronectin type-III 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAGGGAGCCAAGAAAGGGTGA 0.443000 35 9 0 0 0.000673 0 0 PDE2A 5138 broad.mit.edu 37 11 72293497 72293497 + Missense_Mutation SNP G C C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr11:72293497G>C uc010rrc.2 - 20 2088 c.1842C>G c.(1840-1842)gaC>gaG p.D614E PDE2A_uc001oso.3_Missense_Mutation_p.D593E|PDE2A_uc010rra.2_Missense_Mutation_p.D607E|PDE2A_uc001osn.3_Missense_Mutation_p.D358E|PDE2A_uc010rrb.2_Missense_Mutation_p.D605E|PDE2A_uc010rrd.2_Missense_Mutation_p.D499E NM_002599 NP_002590 O00408 PDE2A_HUMAN Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA. 614 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CCATGGACGTGTCATCCTCGG 0.512000 129 31 0 0 0.002096 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44218202 44218202 + Missense_Mutation SNP A G G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr6:44218202A>G uc003oxa.1 + 5 907 c.823A>G c.(823-825)Aaa>Gaa p.K275E HSP90AB1_uc011dvr.1_Missense_Mutation_p.K265E|HSP90AB1_uc003oxb.1_Missense_Mutation_p.K275E|HSP90AB1_uc011dvs.1_Missense_Mutation_p.K95E|HSP90AB1_uc003oxc.1_5'UTR NM_007355 NP_031381 P08238 HS90B_HUMAN Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA. 275 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) gatcaaagagaaATACATTGA 0.403000 34 8 0 0 0.003080 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148944547 148944547 + Missense_Mutation SNP G A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr4:148944547G>A uc003ilf.3 + 18 1850 c.1850G>A c.(1849-1851)tGt>tAt p.C617Y ARHGAP10_uc003ilg.3_Missense_Mutation_p.C266Y|ARHGAP10_uc003ilh.3_Missense_Mutation_p.C198Y|ARHGAP10_uc003ili.3_Missense_Mutation_p.C50Y NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA. 617 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane SH3 domain binding|cytoskeletal adaptor activity autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TACAATCTTTGTCTGGAGCTG 0.507000 30 13 0 0 0.003163 0 0 EIF3G 8666 broad.mit.edu 37 19 10226237 10226237 + Missense_Mutation SNP G A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:10226237G>A uc002mnd.3 - 9 929 c.865C>T c.(865-867)Cgc>Tgc p.R289C NM_003755 NP_003746 O75821 EIF3G_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA. 289 RRM. cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity central_nervous_system(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) TCCTCGCGGCGGTGGAAGCTG 0.642000 39 11 0 0 0.000978 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C T T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr13:115047559C>T uc001vup.3 + 1 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript NM_023011 NP_075387 Q9H1J1 REN3A_HUMAN Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA. 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding p.L91L(16) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 5 5 0 0 0.000602 0 0 KLK8 11202 broad.mit.edu 37 19 51499375 51499375 + Silent SNP G C C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:51499375G>C uc002puq.1 - 5 1044 c.858C>G c.(856-858)gtC>gtG p.V286V KLK8_uc002pur.1_Silent_p.V241V|KLK8_uc002pus.1_Silent_p.V100V|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Silent_p.V241V|KLK8_uc002puv.1_Non-coding_Transcript NM_144505 NP_653088 O60259 KLK8_HUMAN Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA. 241 cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity p.V286I(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) TGTTGGTATAGACGCCAGGTT 0.537000 74 20 0 0 0.001882 0 0 KLK8 11202 broad.mit.edu 37 19 51499431 51499431 + Nonsense_Mutation SNP G A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:51499431G>A uc002puq.1 - 5 988 c.802C>T c.(802-804)Cag>Tag p.Q268* KLK8_uc002pur.1_Nonsense_Mutation_p.Q223*|KLK8_uc002pus.1_Nonsense_Mutation_p.Q82*|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Nonsense_Mutation_p.Q223*|KLK8_uc002puv.1_Non-coding_Transcript NM_144505 NP_653088 O60259 KLK8_HUMAN Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA. 223 cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) GTGATGCCCTGGAGTGCACCA 0.562000 53 13 0 0 0.002450 0 0 LOC220729 220729 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T C C rs138265355 by1000genomes TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr3:197348646T>C uc011bug.2 - 3 c.445A>G LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA. TGGGCCTGCCTGCCCTTTCCA 0.532000 48 5 0 0 0.001168 0 0 ZMYND10 51364 broad.mit.edu 37 3 50379244 50379244 + Missense_Mutation SNP C G G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr3:50379244C>G uc003dag.1 - 9 1264 c.1118G>C c.(1117-1119)cGa>cCa p.R373P RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Missense_Mutation_p.R368P NM_015896 NP_056980 O75800 ZMY10_HUMAN Homo sapiens zinc finger, MYND-type containing 10 (ZMYND10), mRNA. 373 cytoplasm protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GCCTTACCTTCGCGCCTGCAG 0.632000 TSP Lung(30;0.18) 24 10 0 0 0.000673 0 0 VRK3 51231 broad.mit.edu 37 19 50496177 50496177 + Missense_Mutation SNP C G G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:50496177C>G uc002prg.2 - 9 1001 c.903G>C c.(901-903)gaG>gaC p.E301D VRK3_uc002prh.1_Missense_Mutation_p.E301D|VRK3_uc002pri.1_Missense_Mutation_p.E251D|VRK3_uc010ens.2_Missense_Mutation_p.E301D|VRK3_uc010ybl.1_Missense_Mutation_p.E251D|VRK3_uc010ybm.1_Missense_Mutation_p.E70D|VRK3_uc002prk.2_Missense_Mutation_p.E301D|VRK3_uc010ent.2_Missense_Mutation_p.E57D|VRK3_uc002prl.3_Missense_Mutation_p.E301D|VRK3_uc010ybn.1_Missense_Mutation_p.S279T NM_016440 NP_057524 Q8IV63 VRK3_HUMAN Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA. 301 Protein kinase. nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) CATGAACATACTCATTCTCAT 0.512000 73 21 0 0 0.001523 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39191032 39191032 + Silent SNP G A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr17:39191032G>A uc002hvv.3 - 0 76 c.42C>T c.(40-42)tgC>tgT p.C14C NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA. 14 extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CACTGGTGGAGCAGCTGGGAT 0.577000 55 14 0 0 0.001855 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58022613 58022613 + Silent SNP G C C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr12:58022613G>C uc001spg.1 - 7 1317 c.885C>G c.(883-885)ctC>ctG p.L295L B4GALNT1_uc010sru.2_Silent_p.L240L|B4GALNT1_uc010srv.2_Silent_p.L262L NM_001478 NP_001469 Q00973 B4GN1_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA. 295 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TACTGGTGATGAGAGCCCGTA 0.577000 162 29 0 0 0.007291 0 0 TSPAN11 441631 broad.mit.edu 37 12 31144797 31144797 + Missense_Mutation SNP G T T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr12:31144797G>T uc010sju.2 + 7 1089 c.709G>T c.(709-711)Ggg>Tgg p.G237W TSPAN11_uc001rjp.3_Missense_Mutation_p.G237W|TSPAN11_uc010sjv.2_Missense_Mutation_p.G227W NM_001080509 NP_001073978 A1L157 TSN11_HUMAN Homo sapiens tetraspanin 11 (TSPAN11), mRNA. 237 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2) 11 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GCAGATCTGCGGGATGGTTCT 0.572000 111 5 3.59834e-05 0.000453237 0.001168 1 0 ZNF814 730051 broad.mit.edu 37 19 58386284 58386285 + Missense_Mutation DNP TG CA CA rs148592080 by1000genomes TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:58386284_58386285TG>CA uc002qqo.2 - 2 745_746 c.473_474CA>TG c.(472-474)gca>gTG p.A158V ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN Homo sapiens zinc finger protein 814 (ZNF814), mRNA. 158 A -> V (in Ref. 1; BAH13293). regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 TACACCTCTTTGCAAACAACGC 0.490000 29 4 0 0 0.004672 0 0 XIST 7503 broad.mit.edu 37 X 73062205 73062205 + RNA SNP A T T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chrX:73062205A>T uc004ebm.1 - 0 c.10384T>A Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. AAAATAAAGGATGGCAATCCA 0.458000 5 3 0 0 0.000248 0 0 CECR6 27439 broad.mit.edu 37 22 17600670 17600670 + Missense_Mutation SNP C T T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr22:17600670C>T uc002zmb.2 - 0 1544 c.1348G>A c.(1348-1350)Gcc>Acc p.A450T CECR6_uc002zma.2_Missense_Mutation_p.A95T|BC021738_uc002zmc.3_5'Flank NM_031890 NP_114096 Q9BXQ6 CECR6_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA. 450 Poly-Ala. haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) GCCGCTGCGGCCGCGGCGTTG 0.731000 2 3 0 0 0.004672 0 0 WIPI2 26100 broad.mit.edu 37 7 5270477 5270477 + Missense_Mutation SNP G C C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr7:5270477G>C uc003snv.3 + 12 1480 c.1264G>C c.(1264-1266)Gac>Cac p.D422H WIPI2_uc003snw.3_Missense_Mutation_p.D411H|WIPI2_uc003snx.3_Missense_Mutation_p.D404H|WIPI2_uc003sny.3_Missense_Mutation_p.D393H|WIPI2_uc010ksv.3_Missense_Mutation_p.D278H|WIPI2_uc003soa.3_Missense_Mutation_p.D352H NM_015610 NP_056425 Q9Y4P8 WIPI2_HUMAN Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA. 422 autophagic vacuole assembly PAS complex|cytosol|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) CTACACAGACGACCTGGGTGC 0.607000 39 11 0 0 0.000978 0 0 FAT4 79633 broad.mit.edu 37 4 126412858 126412858 + Missense_Mutation SNP G A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr4:126412858G>A uc003ifj.4 + 16 14881 c.14881G>A c.(14881-14883)Gaa>Aaa p.E4961K FAT4_uc011cgp.2_Missense_Mutation_p.E3202K|FAT4_uc003ifi.1_Missense_Mutation_p.E2438K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4961 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGCAGCAAATGAAGAAGGCAA 0.408000 10 7 0 0 0.001984 0 0 CIC 23152 broad.mit.edu 37 19 42793213 42793213 + Missense_Mutation SNP G A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:42793213G>A uc002otf.1 + 6 1145 c.1105G>A c.(1105-1107)Gac>Aac p.D369N NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CGGAGAAGTAGACAGTCAGGC 0.667000 """Mis, F, S""" oligodendroglioma 58 14 0 0 0.002450 0 0 SPTBN4 57731 broad.mit.edu 37 19 41003437 41003437 + Missense_Mutation SNP C T T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:41003437C>T uc002ony.3 + 6 796 c.710C>T c.(709-711)gCc>gTc p.A237V SPTBN4_uc002onx.3_Missense_Mutation_p.A237V|SPTBN4_uc002onz.3_Missense_Mutation_p.A237V NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 237 Actin-binding.|CH 2. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton p.A237A(1) breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AAGTCCAATGCCAACTACAAC 0.657000 62 13 0 0 0.002450 0 0 PCNX 22990 broad.mit.edu 37 14 71572021 71572021 + Silent SNP G T T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr14:71572021G>T uc001xmo.2 + 32 6611 c.6165G>T c.(6163-6165)ggG>ggT p.G2055G PCNX_uc010are.1_Silent_p.G1944G|PCNX_uc010arf.1_Silent_p.G843G|PCNX_uc001xmp.2_Silent_p.G139G NM_014982 NP_055797 Q96RV3 PCX1_HUMAN Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA. 2055 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CTGGAGGTGGGACTTCCTGCA 0.493000 17 23 4.54149e-19 6.40133e-18 0.002299 1 0 DNAH17 8632 broad.mit.edu 37 17 76498698 76498698 + Missense_Mutation SNP G A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr17:76498698G>A uc010dhp.2 - 32 5290 c.5165C>T c.(5164-5166)gCt>gTt p.A1722V AK127460_uc002jvt.1_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ATCTCTGATAGCGTTTTCATA 0.478000 10 8 0 0 0.003080 0 0 MALAT1 378938 broad.mit.edu 37 11 65265689 65265689 + RNA SNP A T T rs137885794 by1000genomes TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr11:65265689A>T uc010roh.2 + 0 c.457A>T Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA. CCATTCGCTTAGTTGGTCTAC 0.488000 23 10 0 0 0.000673 0 0 PPP6R2 9701 broad.mit.edu 37 22 50869699 50869699 + Missense_Mutation SNP C A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr22:50869699C>A uc003blb.2 + 11 1645 c.1223C>A c.(1222-1224)aCa>aAa p.T408K PPP6R2_uc003blc.3_Missense_Mutation_p.T408K|PPP6R2_uc003bky.2_Missense_Mutation_p.T408K|PPP6R2_uc003bla.2_Missense_Mutation_p.T409K|PPP6R2_uc003bkz.2_Missense_Mutation_p.T408K|PPP6R2_uc003bld.2_5'UTR NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 408 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 GAGGAGAGGACAGAAGCCAGC 0.577000 75 14 1.05317e-09 1.44995e-08 0.002450 1 0 NSUN3 63899 broad.mit.edu 37 3 93781971 93781971 + Missense_Mutation SNP A G G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr3:93781971A>G uc003drl.1 + 0 117 c.1A>G c.(1-3)Atg>Gtg p.M1V DHFRL1_uc003dri.3_5'Flank|DHFRL1_uc003drj.3_5'UTR|DHFRL1_uc021xbk.1_5'Flank|NSUN3_uc003drk.3_Non-coding_Transcript NM_022072 NP_071355 Q9H649 NSUN3_HUMAN Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA. 1 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 CAGCGGGACAATGCTGACCCA 0.582000 93 71 0 0 0.003610 0 0 ZNF45 7596 broad.mit.edu 37 19 44419091 44419092 + Nonsense_Mutation DNP CC TA TA TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:44419091_44419092CC>TA uc002oxu.2 - 3 595_596 c.496_497GG>TA c.(496-498)gga>TAa p.G166* ZNF45_uc002oxw.2_Nonsense_Mutation_p.G166* NM_003425 NP_003416 Q02386 ZNF45_HUMAN Homo sapiens zinc finger protein 45 (ZNF45), mRNA. 166 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 ACAATGTTCTCCTTTGTAGGGT 0.401000 49 18 0 0 0.004672 0 0 SYNJ1 8867 broad.mit.edu 37 21 34037380 34037380 + Splice_Site SNP C A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr21:34037380C>A uc002yqh.2 - 18 2263 c.2263_splice c.e18-1 p.G755_splice SYNJ1_uc011ads.1_Splice_Site_p.G711_splice|SYNJ1_uc002yqf.2_Splice_Site_p.G716_splice|SYNJ1_uc002yqg.2_Splice_Site_p.G711_splice|SYNJ1_uc002yqi.2_Splice_Site_p.G755_splice NM_003895 NP_003886 O43426 SYNJ1_HUMAN Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA. 716 Catalytic (Potential). RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TAGCATCCTTCCCTGAAAGCA 0.353000 15 12 2.27111e-07 3.05568e-06 0.001368 1 0 FLG2 388698 broad.mit.edu 37 1 152325088 152325088 + Missense_Mutation SNP C T T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr1:152325088C>T uc001ezw.4 - 2 5247 c.5174G>A c.(5173-5175)gGa>gAa p.G1725E AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1725 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGCCAGATCCCCTTCTTCC 0.498000 154 55 0 0 0.003610 0 0 HGF 3082 broad.mit.edu 37 7 81346642 81346642 + Missense_Mutation SNP C G G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr7:81346642C>G uc003uhl.3 - 10 1476 c.1311G>C c.(1309-1311)gaG>gaC p.E437D HGF_uc003uhm.3_Missense_Mutation_p.E432D NM_000601 NP_000592 P14210 HGF_HUMAN Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA. 437 Kringle 4. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.E437Q(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GGCAGTAATTCTCATTCAGCT 0.443000 38 11 0 0 0.000673 0 0 KRT23 25984 broad.mit.edu 37 17 39092616 39092616 + Silent SNP G A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr17:39092616G>A uc002hvm.1 - 1 829 c.240C>T c.(238-240)aaC>aaT p.N80N KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Silent_p.N80N|KRT23_uc002hvn.1_Silent_p.N80N NM_015515 NP_056330 Q9C075 K1C23_HUMAN Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA. 80 Coil 1A.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) CCAGGCGGTCGTTGAGATTCT 0.612000 63 43 0 0 0.003610 0 0 GAS2L2 246176 broad.mit.edu 37 17 34077157 34077157 + Missense_Mutation SNP T G G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr17:34077157T>G uc002hjv.2 - 1 594 c.566A>C c.(565-567)gAc>gCc p.D189A NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA. 189 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CGGCGAGGGGTCGGGCGGGGG 0.741000 38 9 0 0 0.006214 0 0 ALPK2 115701 broad.mit.edu 37 18 56202520 56202520 + Silent SNP C T T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr18:56202520C>T uc002lhj.4 - 4 5113 c.4899G>A c.(4897-4899)gaG>gaA p.E1633E ALPK2_uc002lhk.1_Silent_p.E964E NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1633 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTTGAAGCACCTCTATTTTAG 0.448000 43 28 0 0 0.004656 0 0 IL17RD 54756 broad.mit.edu 37 3 57132135 57132135 + Missense_Mutation SNP G T T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr3:57132135G>T uc003dil.3 - 11 1685 c.1596C>A c.(1594-1596)aaC>aaA p.N532K IL17RD_uc003dik.3_Missense_Mutation_p.N508K|IL17RD_uc010hna.3_Missense_Mutation_p.N388K|IL17RD_uc011bex.1_Missense_Mutation_p.N388K NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN Homo sapiens interleukin 17 receptor D (IL17RD), mRNA. 532 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) TCCGGAAGTAGTTCCTTCTGC 0.577000 22 6 0.000157383 0.00194106 0.003080 1 0 RPA2 6118 broad.mit.edu 37 1 28233446 28233446 + Missense_Mutation SNP T C C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr1:28233446T>C uc001bpe.1 - 3 608 c.326A>G c.(325-327)gAc>gGc p.D109G RPA2_uc010ofp.1_Missense_Mutation_p.D13G NM_002946 NP_002937 P15927 RFA2_HUMAN Homo sapiens replication protein A2, 32kDa (RPA2), mRNA. 109 Asp/Glu-rich (acidic). DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor A complex|PML body protein phosphatase binding|single-stranded DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1) 11 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649) TACATCTGTGTCAACCCACTG 0.393000 Direct reversal of damage;Nucleotide excision repair (NER) 26 4 0 0 0.000248 0 0 CEP350 9857 broad.mit.edu 37 1 179955328 179955329 + Frame_Shift_Ins INS - A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr1:179955328_179955329insA uc001gnt.3 + 1 395_396 c.12_13insA c.(10-15)agcaaafs p.S4fs CEP350_uc001gnr.1_Frame_Shift_Ins_p.Q18fs|CEP350_uc009wxl.2_Frame_Shift_Ins_p.S4fs NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 4 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TGAGGAGCAGCAAATCAAAAGA 0.322 --- 4 --- --- 2 --- DZIP1L 199221 broad.mit.edu 37 3 137783520 137783521 + Frame_Shift_Ins INS - A A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr3:137783520_137783521insA uc003erq.3 - 14 2454_2455 c.2091_2092insT c.(2089-2094)tttatgfs p.F697fs NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA. 697 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 GCATTGGGCATAAAAAACAGAC 0.515 --- 295 --- --- 78 --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT - - rs34222232 TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr9:139277995_139277997delGCT uc004chh.3 - 14 1633_1635 c.1624_1626delAGC c.(1624-1626)agcdel p.S542del NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA. 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(4) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 --- 3 --- --- 3 --- CD44 960 broad.mit.edu 37 11 35222633 35222634 + Frame_Shift_Ins INS - ACCAC ACCAC TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr11:35222633_35222634insACCAC uc001mvu.3 + 7 1361_1362 c.927_928insACCAC c.(925-930)tcaaccfs p.S309fs CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Frame_Shift_Ins_p.S266fs|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Intron|CD44_uc010ret.2_Intron NM_000610 NP_000601 P16070 CD44_HUMAN Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA. 309 Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation Golgi apparatus|cell surface|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) TCACAGTTTCAACCACACCACG 0.455 --- 106 --- --- 12 ---