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 ITGA2B 3674 broad.mit.edu 37 17 42462331 42462331 + Missense_Mutation SNP A G G TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr17:42462331A>G uc002igt.1 - 6 816 c.784T>C c.(784-786)Ttc>Ctc p.F262L NM_000419 NP_000410 P08514 ITA2B_HUMAN Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA. 262 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity p.Y261*(1) biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) TAGCCGTCGAAGTACTCTGGG 0.612000 113 4 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140228407 140228407 + Silent SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140228407C>T uc003lhu.2 + 0 1051 c.327C>T c.(325-327)atC>atT p.I109I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.I109I NM_031857 NP_114063 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA. 124 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGGTGATCGTAGACAGGC 0.542000 175 4 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1089128 1089128 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:1089128G>A uc003jbu.3 - 3 524 c.458C>T c.(457-459)tCc>tTc p.S153F NM_006598 NP_006589 Q9Y666 S12A7_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA. 153 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GATGAGGAAGGACTCCAGGAC 0.642000 95 5 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215656 130215656 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:130215656C>T uc004evz.3 + 1 362 c.17C>T c.(16-18)cCt>cTt p.P6L ARHGAP36_uc004ewa.3_Intron|ARHGAP36_uc004ewb.3_Intron|ARHGAP36_uc004ewc.3_5'Flank NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA. 6 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GGCTGCATTCCTTTTCTGAAG 0.527000 44 4 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140182156 140182156 + Silent SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140182156C>T uc003lhf.2 + 0 1374 c.1374C>T c.(1372-1374)tcC>tcT p.S458S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S458S NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 472 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCGCAGTCCGAGTACACGG 0.667000 128 5 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36039597 36039597 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:36039597G>A uc003jjz.2 - 4 1189 c.1057C>T c.(1057-1059)Cct>Tct p.P353S UGT3A2_uc011cos.2_Missense_Mutation_p.P319S|UGT3A2_uc011cot.2_Missense_Mutation_p.P51S NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 353 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCACTCTGAGGAAGCCAGTCC 0.537000 43 3 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881385 26881385 + Missense_Mutation SNP C T T rs143922310 TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:26881385C>T uc003jgs.1 - 11 2399 c.2230G>A c.(2230-2232)Gat>Aat p.D744N CDH9_uc011cnv.1_Missense_Mutation_p.D337N NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 744 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D744N(2) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GCTATGGAATCATTCCCTTCA 0.423000 79 5 0 0 1 0 0 C11orf41 25758 broad.mit.edu 37 11 33572653 33572653 + Missense_Mutation SNP A G G TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:33572653A>G uc021qfs.1 + 3 2802 c.2678A>G c.(2677-2679)tAt>tGt p.Y893C C11orf41_uc001mun.1_Missense_Mutation_p.Y899C NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA. 893 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 52 AAGTTGGTGTATTTGCCTGCT 0.453000 108 8 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140264024 140264024 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140264024C>T uc003lif.2 + 0 2171 c.2171C>T c.(2170-2172)tCg>tTg p.S724L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.S724L|PCDHAC2_uc003lid.3_Missense_Mutation_p.S724L NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 732 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCGGTGCTCGGCACCGCCC 0.657000 120 5 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152286076 152286076 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:152286076G>A uc001ezu.1 - 2 1322 c.1286C>T c.(1285-1287)tCa>tTa p.S429L AK056431_uc001ezv.3_Non-coding_Transcript NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 429 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGTTTTCTGAATGTCCCTC 0.597000 Ichthyosis 265 7 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135269644 135269644 + Silent SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr7:135269644C>T uc003vsw.3 + 7 1138 c.1107C>T c.(1105-1107)ttC>ttT p.F369F NUP205_uc011kqa.1_Non-coding_Transcript NM_015135 NP_055950 Q92621 NU205_HUMAN Homo sapiens nucleoporin 205kDa (NUP205), mRNA. 369 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 ACAACGTTTTCCTGTTCCTCA 0.393000 30 3 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228482035 228482035 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:228482035C>T uc009xez.1 + 41 11358 c.11314C>T c.(11314-11316)Cgt>Tgt p.R3772C OBSCN_uc001hsn.3_Missense_Mutation_p.R3772C|OBSCN_uc001hsq.1_Missense_Mutation_p.R1028C NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 3772 Ig-like 38. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGCAGATCCGTGGCCTGGC 0.627000 92 4 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12918881 12918881 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:12918881C>T uc001aum.1 + 1 104 c.17C>T c.(16-18)cCa>cTa p.P6L NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 6 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATCCAGGCCCCACCGAGACTA 0.547000 82 4 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55873324 55873324 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:55873324G>A uc010riy.2 + 0 806 c.806G>A c.(805-807)gGa>gAa p.G269E NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA. 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TATTCCTTGGGAAGAGATCAA 0.363000 HNSCC(53;0.14) 61 5 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52715946 52715946 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:52715946C>T uc002pyp.3 + 4 806 c.511C>T c.(511-513)Cgg>Tgg p.R171W PPP2R1A_uc010ydk.2_Missense_Mutation_p.R116W|PPP2R1A_uc010epm.1_Missense_Mutation_p.R211W|PPP2R1A_uc002pyq.3_5'UTR NM_014225 NP_055040 P30153 2AAA_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA. 171 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity p.R171fs*7(1) NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CAGGTACTTCCGGAACCTGTG 0.612000 Mis clear cell ovarian carcinoma 32 3 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134920399 134920399 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr3:134920399G>A uc003eqt.3 + 11 2589 c.2214G>A c.(2212-2214)atG>atA p.M738I EPHB1_uc003equ.3_Missense_Mutation_p.M299I NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 738 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TGGCTGAGATGAATTATGTGC 0.527000 147 6 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160761829 160761829 + Silent SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:160761829G>A uc003lys.1 - 7 980 c.762C>T c.(760-762)atC>atT p.I254I GABRB2_uc011deh.1_Silent_p.I93I|GABRB2_uc003lyr.1_Silent_p.I254I|GABRB2_uc003lyt.1_Silent_p.I254I|GABRB2_uc021yhg.1_Silent_p.I191I NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 254 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGGTAATCAGGATGGAAGGCA 0.428000 34 3 0 0 1 0 0 NDST1 3340 broad.mit.edu 37 5 149924963 149924963 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:149924963C>T uc003lsk.4 + 10 2562 c.2060C>T c.(2059-2061)cCc>cTc p.P687L NDST1_uc011dcj.2_Missense_Mutation_p.P687L NM_001543 NP_001534 P52848 NDST1_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA. 687 Heparan sulfate N-sulfotransferase 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) GAAGTGGCGCCCCGGCGGGCA 0.592000 199 7 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167708053 167708053 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr6:167708053C>T uc003qvq.3 + 1 311 c.136C>T c.(136-138)Ctc>Ttc p.L46F UNC93A_uc003qvr.3_Missense_Mutation_p.L46F NM_018974 NP_061847 Q86WB7 UN93A_HUMAN Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA. 46 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GCTCAGCACCCTCTATGGAGG 0.612000 114 5 0 0 1 0 0 TCTN2 79867 broad.mit.edu 37 12 124171517 124171517 + Silent SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr12:124171517C>T uc001ufp.3 + 5 827 c.699C>T c.(697-699)ccC>ccT p.P233P TCTN2_uc009zya.3_Silent_p.P232P NM_024809 NP_079085 Q96GX1 TECT2_HUMAN Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA. 233 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) ATTGGTTTCCCTTTCTGTGTG 0.562000 189 5 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769018 247769018 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:247769018C>T uc010pyz.2 + 0 131 c.131C>T c.(130-132)aCc>aTc p.T44I NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA. 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGAAACTTCACCATAATCATC 0.448000 122 6 0 0 1 0 0 C1orf105 92346 broad.mit.edu 37 1 172425560 172425560 + Silent SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:172425560G>A uc001gik.3 + 3 402 c.204G>A c.(202-204)agG>agA p.R68R NM_139240 NP_640333 O95561 CA105_HUMAN Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA. 68 large_intestine(1)|lung(12)|prostate(1)|skin(1) 15 CTCAGGCCAGGAGGAACCAGT 0.522000 85 4 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19246928 19246928 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:19246928G>A uc001mpm.3 - 11 2783 c.2261C>T c.(2260-2262)cCt>cTt p.P754L E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.P754L NM_024680 NP_078956 A0AVK6 E2F8_HUMAN Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA. 754 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCCAGACCCAGGGCTGGCAGA 0.527000 57 4 0 0 1 0 0 PIGK 10026 broad.mit.edu 37 1 77558147 77558147 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:77558147G>A uc001dhk.3 - 10 1145 c.1100C>T c.(1099-1101)cCt>cTt p.P367L PIGK_uc010orj.2_Missense_Mutation_p.P291L|PIGK_uc009wbx.3_Missense_Mutation_p.P273L NM_005482 NP_005473 Q92643 GPI8_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class K (PIGK), mRNA. 367 C-terminal protein lipidation|attachment of GPI anchor to protein|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex GPI-anchor transamidase activity|cysteine-type endopeptidase activity|protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 AAAGCCCCCAGGAGGATGCCA 0.328000 41 3 0 0 1 0 0 PRPH 5630 broad.mit.edu 37 12 49691295 49691295 + Silent SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr12:49691295C>T uc001rtu.3 + 5 1227 c.1152C>T c.(1150-1152)aaC>aaT p.N384N NM_006262 NP_006253 P41219 PERI_HUMAN Homo sapiens peripherin (PRPH), mRNA. 384 Coil 2.|Rod. structural molecule activity kidney(1)|large_intestine(2)|lung(8)|skin(1) 12 AGCTCCTCAACGTCAAGATGG 0.692000 OREG0021790 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 3 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11190632 11190632 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:11190632G>A uc001asd.3 - 38 5688 c.5567C>T c.(5566-5568)aCc>aTc p.T1856I MTOR_uc001asc.3_Missense_Mutation_p.T61I NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 1856 FAT. T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GCTGTTCTCGGTGCTCTCGGC 0.622000 49 4 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17415306 17415306 + Splice_Site SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:17415306C>T uc001mnc.3 - 38 4672 c.4546_splice c.e38-1 p.E1516_splice NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 1516 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGATGTTTTCCTGCCAAGTG 0.617000 102 4 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140221278 140221278 + Silent SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140221278G>A uc003lhs.2 + 0 372 c.372G>A c.(370-372)aaG>aaA p.K124K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.K124K NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 139 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGGTGAAGGATGTTAATG 0.577000 138 4 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140754623 140754623 + Missense_Mutation SNP C A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140754623C>A uc003ljy.2 + 0 973 c.973C>A c.(973-975)Cca>Aca p.P325T PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P325T NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 328 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGGATGGGCCAGGTCTTCG 0.413000 121 4 0.150653 0.150653 1 1 0 SLC44A3 126969 broad.mit.edu 37 1 95356735 95356735 + Missense_Mutation SNP C A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:95356735C>A uc001dqv.4 + 12 1639 c.1532C>A c.(1531-1533)gCa>gAa p.A511E SLC44A3_uc001dqx.4_Missense_Mutation_p.A510E|SLC44A3_uc010otq.2_Missense_Mutation_p.A443E|SLC44A3_uc010otr.2_Missense_Mutation_p.A475E|SLC44A3_uc001dqw.4_Missense_Mutation_p.A463E|SLC44A3_uc010ots.2_Missense_Mutation_p.A431E|SLC44A3_uc009wds.3_Missense_Mutation_p.A414E|SLC44A3_uc010ott.2_Missense_Mutation_p.A430E|SLC44A3_uc010otu.1_Non-coding_Transcript NM_001114106 NP_689582 Q8N4M1 CTL3_HUMAN Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA. 511 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) TGTACATCAGCAAAAGATGCA 0.303000 44 3 0.115264 0.116761 1 1 0 OR4N4 283694 broad.mit.edu 37 15 22382594 22382594 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr15:22382594G>A uc001yuc.1 + 6 1103 c.122G>A c.(121-123)gGa>gAa p.G41E abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.G41E NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATCCTCCCTGGAAATTTTCTC 0.443000 107 4 0 0 1 0 0 OPN1SW 611 broad.mit.edu 37 7 128415721 128415721 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr7:128415721C>T uc003vnt.4 - 0 124 c.124G>A c.(124-126)Ggc>Agc p.G42S NM_001708 NP_001699 P03999 OPSB_HUMAN Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA. 42 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1) 19 AAGACAGTGCCCATGAAAGCT 0.527000 68 9 0 0 1 0 0 AMELX 265 broad.mit.edu 37 X 11312924 11312924 + Missense_Mutation SNP T A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:11312924T>A uc004cus.3 + 1 84 c.16T>A c.(16-18)Tta>Ata p.L6I ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.L6I|AMELX_uc004cuu.3_Missense_Mutation_p.L6I NM_182680 NP_872621 Q99217 AMELX_HUMAN Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA. 6 ILFA -> T (in AIH1). cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 GACCTGGATTTTATTTGCCTG 0.403000 45 4 0 0 1 0 0 SLC35G5 83650 broad.mit.edu 37 8 11188858 11188858 + Silent SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr8:11188858C>T uc003wtp.1 + 0 364 c.243C>T c.(241-243)ctC>ctT p.L81L NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA. 81 DUF6 1. integral to membrane TCTTCCACCTCCCTATTGCCC 0.617000 214 5 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56459286 56459286 + Silent SNP A G G TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:56459286A>G uc002qmh.3 + 0 89 c.18A>G c.(16-18)ccA>ccG p.P6P NLRP8_uc010etg.3_Silent_p.P6P NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 6 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) ACGTGAATCCACCCTCTGACA 0.502000 81 5 0 0 1 0 0 LAIR2 3904 broad.mit.edu 37 19 55019316 55019316 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:55019316G>A uc002qgc.3 + 2 403 c.281G>A c.(280-282)gGa>gAa p.G94E LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.3_Missense_Mutation_p.G94E|LAIR2_uc010erl.3_Intron NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA. 94 Ig-like C2-type. extracellular region receptor activity p.E93E(1) central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) GTAAGTGAAGGAAATGCCGGG 0.493000 64 4 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39724518 39724518 + Silent SNP G A A rs145501803 byFrequency TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr17:39724518G>A uc002hxe.4 - 5 1356 c.1290C>T c.(1288-1290)atC>atT p.I430I JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 430 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton p.E429Q(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) TCTGGCACTCGATCTCTTGCC 0.542000 42 3 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248759 20248759 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr14:20248759C>T uc010tku.2 + 0 278 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S93S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAGATAATTTCCTTTGGTGGA 0.448000 244 5 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T C C rs77768218 TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr2:96521777T>C uc002suz.1 - 30 2790 c.1313A>G c.(1312-1314)cAt>cGt p.H438R SubName: Full=Uncharacterized protein; p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 14 3 0 0 1 0 0 CAB39L 81617 broad.mit.edu 37 13 49951211 49951211 + Silent SNP T G G TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr13:49951211T>G uc001vcw.3 - 2 666 c.168A>C c.(166-168)acA>acC p.T56T CAB39L_uc001vcx.3_Silent_p.T56T|CAB39L_uc010adf.3_Silent_p.T53T NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA. 56 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) CTTTCTCGTTTGTACCACACA 0.438000 59 4 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126724987 126724987 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr3:126724987G>A uc003ejg.3 + 6 1963 c.1963G>A c.(1963-1965)Gac>Aac p.D655N NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 655 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TGCGTCTGTGGACTTCGTCTT 0.607000 61 4 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136990 40136990 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:40136990C>T uc021qgf.1 - 0 853 c.853G>A c.(853-855)Gac>Aac p.D285N LRRC4C_uc001mxc.1_Missense_Mutation_p.D281N|LRRC4C_uc001mxd.1_Missense_Mutation_p.D281N|LRRC4C_uc001mxa.1_Missense_Mutation_p.D285N|LRRC4C_uc001mxb.1_Missense_Mutation_p.D281N NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 285 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GTGAAGAGGTCATGAGGCAGT 0.443000 78 5 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276849 71276849 + Silent SNP G A A rs36179995 TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:71276849G>A uc001oqt.1 + 0 241 c.216G>A c.(214-216)ggG>ggA p.G72G NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA. 72 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GCTCCAAGGGGGACTGTGGCT 0.677000 186 9 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43519394 43519394 + Nonsense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:43519394G>A uc002ovm.1 - 3 945 c.838C>T c.(838-840)Cag>Tag p.Q280* PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Nonsense_Mutation_p.Q158*|PSG11_uc002ovo.1_Nonsense_Mutation_p.Q158* NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA. 280 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) CCTGATAGCTGAAACTTCCCA 0.463000 119 6 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr10:51093329C>T uc001jih.3 - 8 1891 c.1750G>A c.(1750-1752)Gca>Aca p.A584T PARG_uc009xoj.3_Missense_Mutation_p.A135T|PARG_uc001jif.3_Missense_Mutation_p.A584T|PARG_uc001jig.3_Missense_Mutation_p.A170T|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.A475T|PARG_uc010qgx.2_Missense_Mutation_p.A502T NM_003631 NP_003622 Q86W56 PARG_HUMAN Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA. 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(2) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 34 5 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7843136 7843136 + Silent SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr12:7843136G>A uc001qte.3 - 1 469 c.433C>T c.(433-435)Ctg>Ttg p.L145L NM_020634 NP_065685 Q9NR23 GDF3_HUMAN Homo sapiens growth differentiation factor 3 (GDF3), mRNA. 145 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 AACAGAGCCAGTTCCAGCTCT 0.547000 46 3 0 0 1 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 107511 107511 + RNA SNP A T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrGL000211.1:107511A>T uc003boa.3 + 4 c.1051A>T Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. AATGCAAATTATTTTGAAATA 0.279000 19 4 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108383808 108383808 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:108383808G>A uc001pkk.3 - 5 2537 c.2426C>T c.(2425-2427)tCc>tTc p.S809F EXPH5_uc010rvz.2_Missense_Mutation_p.S653F|EXPH5_uc010rvy.2_Missense_Mutation_p.S621F NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 809 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GAAAGGAAGGGAAGCTGTTGA 0.378000 94 4 0 0 1 0 0 CXorf59 286464 broad.mit.edu 37 X 36103547 36103547 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:36103547G>A uc004ddk.1 + 4 719 c.533G>A c.(532-534)gGa>gAa p.G178E NM_173695 NP_775966 Q8N9S7 CX059_HUMAN Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA. 178 integral to membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2) 34 CATTTGAGTGGAAAAATGCCA 0.378000 24 3 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43243169 43243169 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:43243169G>A uc002oue.3 - 1 269 c.137C>T c.(136-138)tCc>tTc p.S46F PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron NM_021016 NP_066296 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA. 46 Ig-like V-type. defense response|female pregnancy extracellular region p.V45V(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CTTCCCCTTGGAAACTTTGGT 0.463000 146 4 0 0 1 0 0 ST13 6767 broad.mit.edu 37 22 41252512 41252512 + Silent SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr22:41252512G>A uc003aze.3 - 0 176 c.33C>T c.(31-33)gcC>gcT p.A11A XPNPEP3_uc011aox.2_5'Flank|XPNPEP3_uc003azh.3_5'Flank|XPNPEP3_uc003azi.3_5'Flank|ST13_uc011aow.2_Silent_p.A11A|XPNPEP3_uc003azf.2_5'Flank|XPNPEP3_uc003azg.2_5'Flank NM_003932 NP_003923 P50502 F10A1_HUMAN Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA. 11 protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 TTTTCACAAAGGCCCGAAGCT 0.642000 53 3 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90001236 90001236 + Silent SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:90001236C>T uc003kju.3 + 36 8502 c.8406C>T c.(8404-8406)atC>atT p.I2802I GPR98_uc003kjt.3_Silent_p.I508I|GPR98_uc003kjv.3_Silent_p.I402I NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2802 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CAGCCGGAATCGCCCTGCTTG 0.433000 58 3 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077883 19077883 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr11:19077883G>A uc001mph.3 - 1 155 c.67C>T c.(67-69)Ctt>Ttt p.L23F MRGPRX2_uc021qer.1_Missense_Mutation_p.L23F NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA. 23 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CAAAGCAGAAGAAGGGCTTGG 0.552000 236 6 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110679733 110679733 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:110679733C>T uc003kpf.3 + 1 408 c.173C>T c.(172-174)tCc>tTc p.S58F CAMK4_uc010jbv.3_5'UTR NM_001744 NP_001735 Q16566 KCC4_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA. 58 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) GGTGCTACATCCATTGTGTAC 0.363000 111 4 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13830227 13830227 + Silent SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:13830227G>A uc003jfd.2 - 36 6199 c.6157C>T c.(6157-6159)Ctg>Ttg p.L2053L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2053 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTACATGTCAGAATAATGGAA 0.408000 Kartagener syndrome 29 3 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 871667 871667 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:871667G>A uc003jbq.3 - 12 1563 c.1396C>T c.(1396-1398)Ccc>Tcc p.P466S BRD9_uc003jbl.3_Missense_Mutation_p.P350S|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.P413S|BRD9_uc003jbo.3_Missense_Mutation_p.P370S|BRD9_uc003jbp.3_Missense_Mutation_p.P127S NM_023924 NP_076413 Q9H8M2 BRD9_HUMAN Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA. 466 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GGCTTCATGGGAACATTTCTT 0.398000 68 4 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995349 140995349 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:140995349C>T uc004fbt.3 + 3 2483 c.2159C>T c.(2158-2160)tCc>tTc p.S720F MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S379F NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 720 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGGGAGGACTCCCTCTCTCCT 0.537000 HNSCC(15;0.026) 69 8 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140221470 140221470 + Silent SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:140221470G>A uc003lhs.2 + 0 564 c.564G>A c.(562-564)gaG>gaA p.E188E PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.E188E NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 203 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACGATGAGAATAAACTGG 0.483000 54 4 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995773 140995773 + Silent SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:140995773C>T uc004fbt.3 + 3 2907 c.2583C>T c.(2581-2583)tcC>tcT p.S861S MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S520S NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 861 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCTCCTCCACTTCATTGA 0.512000 HNSCC(15;0.026) 69 6 0 0 1 0 0 AL117485 0 broad.mit.edu 37 22 18846006 18846006 + RNA SNP A G G TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr22:18846006A>G uc002zoe.3 + 4 c.2368A>G AL117485_uc002zof.3_5'Flank Homo sapiens cDNA FLJ76361 complete cds. GCGCAGGCCGACACTCACTGA 0.617000 51 4 0 0 1 0 0 HAVCR2 84868 broad.mit.edu 37 5 156533879 156533879 + Silent SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr5:156533879G>A uc003lwk.2 - 1 407 c.153C>T c.(151-153)gtC>gtT p.V51V HAVCR2_uc003lwl.3_Silent_p.V51V NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA. 51 Ig-like V-type. integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGCCCCAGCAGACGGGCACGA 0.552000 110 4 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143095438 143095438 + Silent SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr7:143095438G>A uc003wcz.3 - 6 1527 c.1440C>T c.(1438-1440)acC>acT p.T480T NM_005232 NP_005223 P21709 EPHA1_HUMAN Homo sapiens EPH receptor A1 (EPHA1), mRNA. 480 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GCAGCTCATAGGTCAGGTTCG 0.612000 39 4 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042124 75042125 + Silent DNP CC TT TT TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr15:75042124_75042125CC>TT uc002ayr.1 + 1 109_110 c.45_46CC>TT c.(43-48)ctcctg>ctTTtg p.15_16LL>LL NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 15 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CAGAGCTTCTCCTGGCCTCTGC 0.579000 202 4 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197026176 197026176 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:197026176G>A uc001gtt.1 - 6 1182 c.1138C>T c.(1138-1140)Cgt>Tgt p.R380C NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 380 Sushi 6. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CATTTTCCACGATTACAAGTT 0.358000 43 3 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31374370 31374370 + Silent SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr20:31374370C>T uc002wyc.3 + 4 690 c.369C>T c.(367-369)tcC>tcT p.S123S DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.3_Silent_p.S123S|DNMT3B_uc002wye.3_Silent_p.S123S|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.S135S NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA. 123 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity p.R122C(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCCCACGTTCCACCCGAGGCC 0.632000 52 4 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108647691 108647691 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:108647691C>T uc022cch.1 - 8 2076 c.1991G>A c.(1990-1992)aGa>aAa p.R664K GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.R664K NM_001522 NP_001513 P51841 GUC2F_HUMAN Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. 664 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity p.H663fs*9(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 AACAAACTCTCTGTGGTGTAA 0.373000 42 3 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166179814 166179814 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr2:166179814G>A uc002udc.3 + 11 2110 c.1820G>A c.(1819-1821)cGa>cAa p.R607Q SCN2A_uc002udd.3_Missense_Mutation_p.R607Q|SCN2A_uc002ude.3_Missense_Mutation_p.R607Q NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 607 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AATGACAGCCGAAGAGACTCT 0.572000 30 3 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54723043 54723043 + Missense_Mutation SNP A G G TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:54723043A>G uc010erh.1 - 8 1556 c.1432T>C c.(1432-1434)Ttc>Ctc p.F478L LILRB3_uc002qee.1_Missense_Mutation_p.F461L|LILRB3_uc002qef.1_Missense_Mutation_p.F461L|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.F461L|LILRB3_uc002qeh.1_Missense_Mutation_p.F461L|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.F461L|LILRB3_uc002qek.1_Missense_Mutation_p.F461L|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Missense_Mutation_p.F461L|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.F461L|LILRB3_uc002qep.1_Missense_Mutation_p.F461L|LILRB3_uc002qeq.1_Missense_Mutation_p.F461L NM_006864 NP_006855 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA. 461 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) aggaggaggaagaggaggagg 0.597000 25 6 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70049372 70049372 + Missense_Mutation SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr12:70049372C>T uc001svg.3 - 9 1549 c.1322G>A c.(1321-1323)aGa>aAa p.R441K BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.R228K|BEST3_uc010stm.2_Missense_Mutation_p.R335K NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 441 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GGGGGGGTTTCTTGAGGGCAC 0.587000 54 25 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838739 100838739 + Missense_Mutation SNP T A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr6:100838739T>A uc003pqj.4 - 10 2266 c.1799A>T c.(1798-1800)aAa>aTa p.K600I SIM1_uc021zdg.1_Missense_Mutation_p.K600I|SIM1_uc010kcu.3_Missense_Mutation_p.K600I NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 600 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGAGTGTTTTTTCCCAGCCCC 0.473000 54 3 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55972013 55972013 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr4:55972013G>A uc003has.3 - 11 1933 c.1631C>T c.(1630-1632)tCc>tTc p.S544F KDR_uc003hat.1_Missense_Mutation_p.S544F|KDR_uc011bzx.2_Missense_Mutation_p.S544F NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 544 Ig-like C2-type 5. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CACGTGGAAGGAGATCACCCT 0.468000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 216 5 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762624 130762624 + Missense_Mutation SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr6:130762624G>A uc003qcb.3 + 1 3435 c.1057G>A c.(1057-1059)Gag>Aag p.E353K TMEM200A_uc003qca.3_Missense_Mutation_p.E353K|TMEM200A_uc010kfh.3_Missense_Mutation_p.E353K|TMEM200A_uc010kfi.3_Missense_Mutation_p.E353K|TMEM200A_uc021zfg.1_Missense_Mutation_p.E353K NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 353 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TTCCATTGGGGAGTCGTTGTC 0.517000 38 3 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113166682 113166682 + Silent SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr9:113166682G>A uc010mtz.3 - 38 9928 c.9591C>T c.(9589-9591)ttC>ttT p.F3197F SVEP1_uc010mty.3_Silent_p.F1123F NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 3197 Sushi 30. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TATTCACACTGAAATCGTCCC 0.413000 140 4 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46863562 46863562 + Silent SNP C T T TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr17:46863562C>T uc021tzm.1 - 11 1760 c.1725G>A c.(1723-1725)caG>caA p.Q575Q TTLL6_uc002iob.3_Silent_p.Q268Q|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Silent_p.Q328Q|TTLL6_uc002iod.3_Silent_p.Q422Q NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA. 527 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TGTCTTTCTGCTGTTGTTTCT 0.552000 391 5 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281092 152281092 + Silent SNP G A A TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr1:152281092G>A uc001ezu.1 - 2 6306 c.6270C>T c.(6268-6270)ttC>ttT p.F2090F NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2090 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGGTAGAGGAAAGACCCTG 0.562000 Ichthyosis 207 6 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51052012 51052012 + Frame_Shift_Del DEL C - - TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr19:51052012delC uc002pss.3 - 1 221 c.84delG c.(82-84)tggfs p.W28fs NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA. 28 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GGGAGAAGAGCCAGAGGAAGA 0.736 --- 4 --- --- 2 --- MN1 4330 broad.mit.edu 37 22 28194934 28194936 + In_Frame_Del DEL TGC - - rs45480998 TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chr22:28194934_28194936delTGC uc003adj.3 - 0 2551_2553 c.1596_1598delGCA c.(1594-1599)cagcaa>caa p.532_533QQ>Q NM_002430 NP_002421 Q10571 MN1_HUMAN Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA. 532 Poly-Gln. binding p.Q532Q(2) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 ctgctgctgttgctgctgctgct 0.650 T ETV6 """AML, meningioma""" --- 6 --- --- 3 --- MAGED1 9500 broad.mit.edu 37 X 51638563 51638563 + Frame_Shift_Del DEL A - - TCGA-D3-A51H-06A-12D-A25O-08 TCGA-D3-A51H-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FE89385C-90CE-4455-8360-FC2EA2968F32 CC7FB08C-E2DA-4C2F-8188-53657B8D484E g.chrX:51638563delA uc004dpn.3 + 3 818 c.628delA c.(628-630)aaafs p.K210fs MAGED1_uc004dpm.3_Frame_Shift_Del_p.K154fs|MAGED1_uc004dpo.3_Frame_Shift_Del_p.K154fs|MAGED1_uc011mnx.1_Intron NM_001005333 NP_001005333 Q9Y5V3 MAGD1_HUMAN Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA. 154 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) TGCCACTACTAAAGTGGGCCC 0.502 Multiple Myeloma(10;0.10) --- 4 --- --- 2 ---