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 SCNN1D 6339 broad.mit.edu 37 1 1222331 1222331 + Silent SNP C C T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr1:1222331C>T uc001adt.1 + 7 1321 c.1095C>T c.(1093-1095)agC>agT p.S365S SCNN1D_uc001adu.1_Silent_p.S201S|SCNN1D_uc001adw.2_Silent_p.S267S|SCNN1D_uc001adv.2_Silent_p.S201S|SCNN1D_uc001adx.2_5'UTR NM_001130413 NP_001123885 Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA. lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) ACTCGGGCAGCCGGGTCAGAG 0.697 SYDE2 84144 broad.mit.edu 37 1 85656020 85656020 + Missense_Mutation SNP C C A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr1:85656020C>A uc009wcm.3 - 1 1210 c.1161G>T c.(1159-1161)ttG>ttT p.L387F SYDE2_uc001dku.4_Missense_Mutation_p.L387F NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA. 387 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) CACCAAAACTCAAGGCACTTG 0.448 FLG 2312 broad.mit.edu 37 1 152281389 152281389 + Silent SNP C C T rs138652718 byFrequency TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr1:152281389C>T uc001ezu.1 - 2 6009 c.5973G>A c.(5971-5973)gcG>gcA p.A1991A NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1991 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) CATGGGATGACGCAGCCTGTC 0.572 Ichthyosis KLHL20 27252 broad.mit.edu 37 1 173744944 173744944 + Missense_Mutation SNP G G T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr1:173744944G>T uc001gjc.3 + 9 1780 c.1601G>T c.(1600-1602)tGg>tTg p.W534L KLHL20_uc010pmr.2_Missense_Mutation_p.W345L|KLHL20_uc009wwf.3_Missense_Mutation_p.W516L NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA. 534 cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 ACCAACCAGTGGTCTCCAGTG 0.478 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A A G rs2257765 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr10:38654432A>G uc010qex.1 + 4 599 c.524A>G c.(523-525)aAt>aGt p.N175S HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA. TCATCTCGCAATGCAAGGAAA 0.453 PHLDA2 7262 broad.mit.edu 37 11 2950491 2950491 + Missense_Mutation SNP C C T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:2950491C>T uc021qci.1 - 0 104 c.104G>A c.(103-105)cGc>cAc p.R35H PHLDA2_uc001lxa.1_Missense_Mutation_p.R35H NM_003311 NP_003302 Q53GA4 PHLA2_HUMAN Homo sapiens pleckstrin homology-like domain, family A, member 2 (PHLDA2), mRNA. 35 PH. apoptosis cytoplasm|membrane central_nervous_system(1) 1 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGCTCAGGCGGTCGGAGGT 0.667 OR52J3 119679 broad.mit.edu 37 11 5068409 5068409 + Silent SNP G G A rs148600962 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:5068409G>A uc010qyv.2 + 0 654 c.654G>A c.(652-654)tcG>tcA p.S218S NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA. 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGGCATCTCGTATGTTTACA 0.448 OR5P2 120065 broad.mit.edu 37 11 7818191 7818191 + Missense_Mutation SNP G G A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:7818191G>A uc001mfp.1 - 0 299 c.299C>T c.(298-300)gCg>gTg p.A100V NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA. 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAAGAAAGCCGCTGAACCAAG 0.483 OR5W2 390148 broad.mit.edu 37 11 55681318 55681318 + Silent SNP C C T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:55681318C>T uc010rir.2 - 0 741 c.741G>A c.(739-741)gcG>gcA p.A247A NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA. 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A247A(2) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AAATTGCAACCGCAGATAAGT 0.403 OR5T2 219464 broad.mit.edu 37 11 55999905 55999905 + Missense_Mutation SNP C C T rs146086539 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:55999905C>T uc010rjc.2 - 0 757 c.757G>A c.(757-759)Gtt>Att p.V253I NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA. 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) GAGATCAGAACAATCAGGATA 0.448 PDE2A 5138 broad.mit.edu 37 11 72293532 72293532 + Missense_Mutation SNP A A G TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:72293532A>G uc010rrc.2 - 20 2053 c.1807T>C c.(1807-1809)Ttc>Ctc p.F603L PDE2A_uc001oso.3_Missense_Mutation_p.F582L|PDE2A_uc010rra.2_Missense_Mutation_p.F596L|PDE2A_uc001osn.3_Missense_Mutation_p.F347L|PDE2A_uc010rrb.2_Missense_Mutation_p.F594L|PDE2A_uc010rrd.2_Missense_Mutation_p.F488L NM_002599 NP_002590 O00408 PDE2A_HUMAN Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA. 603 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) GTATAGGTGAAACTTGCAAAA 0.537 OR8B4 283162 broad.mit.edu 37 11 124294255 124294255 + Silent SNP G G A rs146995996 byFrequency TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:124294255G>A uc010sak.2 - 0 513 c.513C>T c.(511-513)aaC>aaT p.N171N NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA. 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GGTCAATGACGTTGGAATCAC 0.512 SRPR 6734 broad.mit.edu 37 11 126134309 126134309 + Nonsense_Mutation SNP C C A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:126134309C>A uc001qdh.3 - 11 1829 c.1651G>T c.(1651-1653)Gga>Tga p.G551* SRPR_uc010sbm.2_Nonsense_Mutation_p.G523* NM_003139 NP_003130 P08240 SRPR_HUMAN Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA. 551 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) AAGGCTTCTCCTACAAACAGC 0.517 ZFC3H1 196441 broad.mit.edu 37 12 72057129 72057129 + Missense_Mutation SNP G G A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr12:72057129G>A uc001swo.2 - 0 621 c.262C>T c.(262-264)Cgc>Tgc p.R88C ZFC3H1_uc010sts.2_Missense_Mutation_p.R88C|ZFC3H1_uc001swp.3_Missense_Mutation_p.R88C|THAP2_uc001swq.3_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA. 88 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TGCCGCGAGCGTGAGAAATTC 0.652 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NR1H4 9971 broad.mit.edu 37 12 100904745 100904745 + Missense_Mutation SNP G G A rs113431969 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr12:100904745G>A uc001tht.2 + 1 327 c.299G>A c.(298-300)cGt>cAt p.R100H NR1H4_uc001thq.2_Missense_Mutation_p.R90H|NR1H4_uc001thp.2_Missense_Mutation_p.R90H|NR1H4_uc001thr.2_Missense_Mutation_p.R90H|NR1H4_uc010svk.2_Missense_Mutation_p.R90H|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.R100H NM_001206993 NP_001193922 Q96RI1 NR1H4_HUMAN Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA. 100 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 GAACTCAGGCGTATGCCAGCT 0.522 GABRA5 2558 broad.mit.edu 37 15 27114460 27114460 + Missense_Mutation SNP T T C TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr15:27114460T>C uc001zbd.2 + 2 597 c.65T>C c.(64-66)aTg>aCg p.M22T GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.M22T NM_000810 NP_001158509 P31644 GBRA5_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA. 22 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTATTTCCATGAACTTATCC 0.388 ARHGAP11B 89839 broad.mit.edu 37 15 30938316 30938316 + Splice_Site SNP G G A rs112615235 by1000genomes TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr15:30938316G>A uc010azv.1 + 11 c.1127_splice c.e11-1 ARHGAP11B_uc001zeu.3_Splice_Site|LOC100288637_uc001zev.3_5'Flank Q3KRB8 RHGBB_HUMAN Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 8 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) TTCCTTGGCAGTGGATAAGTT 0.393 CHSY1 22856 broad.mit.edu 37 15 101718018 101718018 + Nonsense_Mutation SNP G G A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr15:101718018G>A uc021sxt.1 - 2 2460 c.1984C>T c.(1984-1986)Cag>Tag p.Q662* CHSY1_uc010usd.2_Nonsense_Mutation_p.Q390* NM_014918 NP_055733 Q86X52 CHSS1_HUMAN Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA. 662 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGGTCATACTGGCTGAAGATG 0.428 RLTPR 146206 broad.mit.edu 37 16 67683416 67683417 + Frame_Shift_Ins INS - - T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr16:67683416_67683417insT uc002etn.3 + 19 1933_1934 c.1813_1814insT c.(1813-1815)ctafs p.L605fs RLTPR_uc010cel.1_Frame_Shift_Ins_p.L598fs|RLTPR_uc010vjr.2_Frame_Shift_Ins_p.L569fs NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA. 605 Tropomodulin-like. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) ACTCCGGGCCCTAGCCACCAAT 0.629 DPEP1 1800 broad.mit.edu 37 16 89704306 89704306 + Missense_Mutation SNP G G A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr16:89704306G>A uc010cin.3 + 9 1195 c.992G>A c.(991-993)aGg>aAg p.R331K DPEP1_uc002fnr.4_Missense_Mutation_p.R331K|DPEP1_uc002fns.4_Missense_Mutation_p.R331K NM_001128141 NP_004404 P16444 DPEP1_HUMAN Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA. 331 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) CTGCTCAGGAGGAACTGGACG 0.627 FXR2 9513 broad.mit.edu 37 17 7495610 7495610 + Missense_Mutation SNP G G A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr17:7495610G>A uc002gia.2 - 15 2253 c.1888C>T c.(1888-1890)Cgc>Tgc p.R630C MPDU1_uc010vuc.1_Intron|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank NM_004860 NP_004851 P51116 FXR2_HUMAN Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA. 630 cytosolic large ribosomal subunit protein binding|RNA binding p.R630C(2) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) GGTTTAGTGCGTTCCAGGGGT 0.522 FKBP10 60681 broad.mit.edu 37 17 39975472 39975472 + Silent SNP C C T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr17:39975472C>T uc002hxv.2 + 4 1063 c.738C>T c.(736-738)atC>atT p.I246I FKBP10_uc002hxw.1_5'UTR NM_021939 NP_068758 Q96AY3 FKB10_HUMAN Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA. 246 PPIase FKBP-type 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) GGACAGTGATCCCCCCACAGG 0.607 NPEPPS 9520 broad.mit.edu 37 17 45681356 45681356 + Missense_Mutation SNP C C T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr17:45681356C>T uc002ilr.4 + 15 2039 c.1816C>T c.(1816-1818)Cgt>Tgt p.R606C NPEPPS_uc010wkt.2_Missense_Mutation_p.R602C|NPEPPS_uc010wku.2_Missense_Mutation_p.R570C|NPEPPS_uc010wkv.2_Missense_Mutation_p.R160C|NPEPPS_uc002ils.1_Missense_Mutation_p.R39C NM_006310 NP_006301 P55786 PSA_HUMAN Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA. 606 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 ACCAGGCATTCGTGACCTTTC 0.433 DSG1 1828 broad.mit.edu 37 18 28934664 28934664 + Silent SNP C C T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr18:28934664C>T uc002kwp.3 + 14 2717 c.2505C>T c.(2503-2505)gtC>gtT p.V835V DSG1_uc010xbp.2_Silent_p.V194V NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 835 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ATGGTAATGTCACTGTGACCG 0.512 SLC14A2 8170 broad.mit.edu 37 18 43212315 43212315 + Missense_Mutation SNP G G T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr18:43212315G>T uc002lbe.3 + 5 1338 c.522_splice c.e5-1 p.R174_splice SLC14A2_uc002lbb.3_Splice_Site_p.R174_splice|SLC14A2_uc010dnj.3_Splice_Site_p.R174_splice NM_007163 NP_009094 Q15849 UT2_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA. 174 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCACCGCCAGGTCTGCCATTG 0.512 MC4R 4160 broad.mit.edu 37 18 58038973 58038973 + Missense_Mutation SNP T T A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr18:58038973T>A uc002lie.1 - 0 1029 c.610A>T c.(610-612)Atg>Ttg p.M204L NM_005912 NP_005903 P32245 MC4R_HUMAN Homo sapiens melanocortin 4 receptor (MC4R), mRNA. 204 feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) AGAGCCAGCATGGTGAAGAAC 0.498 RBFA 79863 broad.mit.edu 37 18 77796687 77796687 + Missense_Mutation SNP A A C TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr18:77796687A>C uc002lns.3 + 1 328 c.178A>C c.(178-180)Agt>Cgt p.S60R TXNL4A_uc010drg.3_5'Flank|RBFA_uc010drh.3_Missense_Mutation_p.S60R|RBFA_uc010dri.2_Intron NM_024805 NP_079081 Q8N0V3 RBFA_HUMAN Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 60 rRNA processing mitochondrion endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 TTGGTATGAAAGTCCTTCCTT 0.378 MAP1S 55201 broad.mit.edu 37 19 17844106 17844106 + Nonsense_Mutation SNP G G T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr19:17844106G>T uc002nhe.1 + 5 2902 c.2893G>T c.(2893-2895)Gag>Tag p.E965* MAP1S_uc010xpv.1_Nonsense_Mutation_p.E939* NM_018174 NP_060644 Q66K74 MAP1S_HUMAN Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA. 965 Necessary for association with actin (By similarity).|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding p.E965*(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 CCTGGTGGATGAGGAGTTCTT 0.697 ZNF98 148198 broad.mit.edu 37 19 22574462 22574462 + Missense_Mutation SNP T T A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr19:22574462T>A uc002nqt.2 - 3 1697 c.1575A>T c.(1573-1575)aaA>aaT p.K525N NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN Homo sapiens zinc finger protein 98 (ZNF98), mRNA. 525 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TGTTAAAGGCTTTGCCGCATT 0.388 CD37 951 broad.mit.edu 37 19 49840274 49840274 + Missense_Mutation SNP G G A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr19:49840274G>A uc002pnd.3 + 2 372 c.251G>A c.(250-252)cGc>cAc p.R84H AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_Missense_Mutation_p.R84H|CD37_uc010yan.1_Missense_Mutation_p.R16H|CD37_uc002pnf.3_Missense_Mutation_p.R56H|CD37_uc002pne.3_Missense_Mutation_p.R16H NM_001774 NP_001035120 P11049 CD37_HUMAN Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA. 84 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 11 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) AAGGAGCTCCGCTGCCTCCTG 0.622 GPR17 2840 broad.mit.edu 37 2 128408380 128408380 + Missense_Mutation SNP G G T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr2:128408380G>T uc010yzn.2 + 3 766 c.155G>T c.(154-156)gGc>gTc p.G52V LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Missense_Mutation_p.G52V|GPR17_uc010yzo.2_Missense_Mutation_p.G24V|GPR17_uc002tpd.3_Missense_Mutation_p.G24V NM_001161415 NP_001154889 Q13304 GPR17_HUMAN Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA. 52 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) gagcaatgtggccaggagacg 0.547 OREG0014966 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAM123C 205147 broad.mit.edu 37 2 131521709 131521709 + Silent SNP C C T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr2:131521709C>T uc021voy.1 + 0 2064 c.2064C>T c.(2062-2064)aaC>aaT p.N688N FAM123C_uc002trw.2_Silent_p.N688N|FAM123C_uc010fmv.2_Silent_p.N688N|FAM123C_uc010fms.1_Silent_p.N688N|FAM123C_uc010fmt.1_Silent_p.N688N|FAM123C_uc010fmu.1_Silent_p.N688N NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 688 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) TCAGCTCAAACGAACAGCCCC 0.652 CST7 8530 broad.mit.edu 37 20 24930092 24930092 + Missense_Mutation SNP C C A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr20:24930092C>A uc002wtx.2 + 0 NM_003650 NP_003641 O76096 CYTF_HUMAN Homo sapiens cystatin F (leukocystatin) (CST7), mRNA. immune response cytoplasm|extracellular region cysteine-type endopeptidase inhibitor activity large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 5 CCTGAGAAGGCACTGCACGGC 0.672 BPIFB3 359710 broad.mit.edu 37 20 31656654 31656654 + Missense_Mutation SNP C C T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr20:31656654C>T uc002wym.1 + 9 1024 c.1024C>T c.(1024-1026)Cgg>Tgg p.R342W NM_182658 NP_872599 P59826 LPLC3_HUMAN Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA. 342 innate immune response cytoplasm|extracellular region lipid binding|protein binding ACTGTTCCTGCGGGTGAGGGA 0.577 PHF20 51230 broad.mit.edu 37 20 34487354 34487354 + Missense_Mutation SNP G G T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr20:34487354G>T uc002xek.1 + 9 1456 c.1345G>T c.(1345-1347)Gac>Tac p.D449Y PHF20_uc002xei.1_Missense_Mutation_p.D449Y|PHF20_uc010gfo.1_Missense_Mutation_p.D449Y|PHF20_uc002xej.1_Missense_Mutation_p.D333Y NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN Homo sapiens PHD finger protein 20 (PHF20), mRNA. 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) TGTCGACCTAGACCATAAGTT 0.348 TMPRSS3 64699 broad.mit.edu 37 21 43803180 43803180 + Silent SNP C C T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr21:43803180C>T uc002zbb.2 - 7 945 c.744G>A c.(742-744)acG>acA p.T248T TMPRSS3_uc002zay.2_5'UTR|TMPRSS3_uc002zaz.2_Silent_p.T121T|TMPRSS3_uc002zba.2_Silent_p.T121T|TMPRSS3_uc002zbc.2_Silent_p.T248T|TMPRSS3_uc002zbd.3_Silent_p.T248T NM_024022 NP_076927 P57727 TMPS3_HUMAN Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA. 248 Peptidase S1. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 TCCACAGGGGCGTGATGACAG 0.602 GGT5 2687 broad.mit.edu 37 22 24622188 24622188 + Missense_Mutation SNP C C T rs149456868 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr22:24622188C>T uc002zzp.4 - 7 1502 c.1085G>A c.(1084-1086)cGc>cAc p.R362H GGT5_uc002zzo.4_Missense_Mutation_p.R362H|GGT5_uc002zzr.4_Missense_Mutation_p.R330H|GGT5_uc002zzq.4_Missense_Mutation_p.R330H|GGT5_uc011ajm.2_Missense_Mutation_p.R285H|GGT5_uc011ajn.1_Non-coding_Transcript NM_001099781 NP_001093251 P36269 GGT5_HUMAN Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA. 362 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity p.R362C(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 GATCTGTTGGCGGATGAGCTG 0.692 TMEM144 55314 broad.mit.edu 37 4 159136389 159136389 + Silent SNP C C G rs149733307 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr4:159136389C>G uc003ipx.3 + 3 676 c.156C>G c.(154-156)gcC>gcG p.A52A TMEM144_uc010iqi.3_Non-coding_Transcript NM_018342 NP_060812 Q7Z5S9 TM144_HUMAN Homo sapiens transmembrane protein 144 (TMEM144), mRNA. 52 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) GGTTGGTTGCCTTGGTTGTCA 0.383 PIK3R1 5295 broad.mit.edu 37 5 67591246 67591246 + Splice_Site SNP A A G TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr5:67591246A>G uc003jva.3 + 14 2326 c.1746_splice c.e14-2 p.M582_splice PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 582 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(10)|p.Y580fs*1(1)|p.0?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) ACTGTTTTTCAGGTGGTTGAC 0.363 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) FSTL4 23105 broad.mit.edu 37 5 132535036 132535036 + Missense_Mutation SNP G G T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr5:132535036G>T uc003kyn.1 - 15 2498 c.2280C>A c.(2278-2280)gaC>gaA p.D760E FSTL4_uc003kym.1_Missense_Mutation_p.D409E NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN Homo sapiens follistatin-like 4 (FSTL4), mRNA. 760 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGAACAGCAGGTCCGGCTCCG 0.582 ARHGAP26 23092 broad.mit.edu 37 5 142281566 142281566 + Missense_Mutation SNP G G A rs148543665 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr5:142281566G>A uc011dbj.2 + 6 699 c.664G>A c.(664-666)Ggg>Agg p.G222R ARHGAP26_uc003lmt.3_Missense_Mutation_p.G222R|ARHGAP26_uc003lmw.3_Missense_Mutation_p.G222R NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA. 222 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding p.G222W(2) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAGGATTTCGGGGACTTCAA 0.448 SNX14 57231 broad.mit.edu 37 6 86253476 86253476 + Nonsense_Mutation SNP C C A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr6:86253476C>A uc003pkr.3 - 12 1304 c.1111G>T c.(1111-1113)Gaa>Taa p.E371* SNX14_uc003pkp.3_Nonsense_Mutation_p.E234*|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Nonsense_Mutation_p.E319*|SNX14_uc003pks.3_Nonsense_Mutation_p.E327*|SNX14_uc003pkt.3_Nonsense_Mutation_p.E371* NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA. 371 RGS. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) TCATTAAATTCCTCTAACAAA 0.279 EGFR 1956 broad.mit.edu 37 7 55221821 55221822 + Missense_Mutation DNP GC GC AA rs149840192 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr7:55221821_55221822GC>AA uc003tqk.3 + 6 1111_1112 c.865_866GC>AA c.(865-867)gcc>AAc p.A289N EGFR_uc003tqh.3_Missense_Mutation_p.A289N|EGFR_uc003tqi.3_Missense_Mutation_p.A289N|EGFR_uc003tqj.3_Missense_Mutation_p.A289N|EGFR_uc022adm.1_Missense_Mutation_p.A289N|EGFR_uc010kzg.2_Missense_Mutation_p.A244N|EGFR_uc022adn.1_Missense_Mutation_p.A244N|EGFR_uc011kco.2_Missense_Mutation_p.A236N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 289 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(40)|p.A289T(6)|p.A289D(6)|p.V30_R297>G(5) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAGCTTTGGTGCCACCTGCGTG 0.589 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55233037 55233037 + Missense_Mutation SNP C C G TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr7:55233037C>G uc003tqk.3 + 14 2033 c.1787C>G c.(1786-1788)cCg>cGg p.P596R EGFR_uc003tqi.3_Missense_Mutation_p.P596R|EGFR_uc003tqj.3_Missense_Mutation_p.P596R|EGFR_uc022adm.1_Missense_Mutation_p.P596R|EGFR_uc010kzg.2_Missense_Mutation_p.P551R|EGFR_uc022adn.1_Missense_Mutation_p.P551R|EGFR_uc011kco.2_Missense_Mutation_p.P543R|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 596 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.P596L(7) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AAGACCTGCCCGGCAGGAGTC 0.567 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr7:82784471A>G uc003uhx.2 - 1 1775 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_uc003uhv.2_Missense_Mutation_p.S496P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(9)|p.?(3) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTTGCTGAGCCAGGCTGT 0.607 BPGM 669 broad.mit.edu 37 7 134346723 134346723 + Missense_Mutation SNP C C T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr7:134346723C>T uc003vrv.3 + 2 1005 c.464C>T c.(463-465)tCg>tTg p.S155L BPGM_uc003vrw.3_Missense_Mutation_p.S155L NM_199186 NP_954655 P07738 PMGE_HUMAN Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA. 155 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity breast(1)|endometrium(1)|lung(2)|stomach(1) 5 CTGCCACGGTCGGAAAGCTTA 0.473 PRSS3P2 154754 broad.mit.edu 37 7 142482229 142482229 + Silent SNP T T A rs145494190 by1000genomes TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr7:142482229T>A uc011ksq.2 + 4 692 c.609T>A c.(607-609)ccT>ccA p.P203P TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493 SLC34A3 142680 broad.mit.edu 37 9 140128961 140128961 + Missense_Mutation SNP C C T rs138798032 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr9:140128961C>T uc022bqf.1 + 10 1408 c.1187C>T c.(1186-1188)aCg>aTg p.T396M SLC34A3_uc011met.2_Missense_Mutation_p.T396M|SLC34A3_uc004cmf.1_Missense_Mutation_p.T396M NM_001177316 NP_543153 Q8N130 NPT2C_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA. 396 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) AGCGTCTTCACGGCGGCCGTC 0.721 DMD 1756 broad.mit.edu 37 X 32663088 32663088 + Missense_Mutation SNP G G C TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chrX:32663088G>C uc004dda.1 - 9 1386 c.1142C>G c.(1141-1143)aCt>aGt p.T381S DMD_uc004dcz.2_Missense_Mutation_p.T258S|DMD_uc004dcy.1_Missense_Mutation_p.T377S|DMD_uc004ddb.1_Missense_Mutation_p.T373S|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.T373S|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Missense_Mutation_p.T92S NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 381 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TACCTCATGAGTATGAAACTG 0.353 PCDH11X 27328 broad.mit.edu 37 X 91132696 91132696 + Missense_Mutation SNP C C T rs62621113 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chrX:91132696C>T uc004efk.2 + 1 2302 c.1457C>T c.(1456-1458)aCg>aTg p.T486M PCDH11X_uc004efl.2_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.2_Missense_Mutation_p.T486M|PCDH11X_uc004efm.2_Missense_Mutation_p.T486M|PCDH11X_uc004efn.2_Missense_Mutation_p.T486M|PCDH11X_uc004efo.2_Missense_Mutation_p.T486M|PCDH11X_uc004efh.2_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 486 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ATCCAGTTGACGAAAGTAAGT 0.438 ARMCX5-GPRASP2 114928 broad.mit.edu 37 X 101971308 101971308 + Missense_Mutation SNP A A G TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chrX:101971308A>G uc022cbh.1 + 0 1511 c.1511A>G c.(1510-1512)cAt>cGt p.H504R ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.H504R NM_001199818 NP_001186747 Q96D09 GASP2_HUMAN Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA. 504 cytoplasm protein binding GGTCTTTTTCATGGGGTTGGC 0.512 PCDH11Y 83259 broad.mit.edu 37 Y 4968500 4968500 + Missense_Mutation SNP A A G TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chrY:4968500A>G uc004fqo.3 + 1 3615 c.2881A>G c.(2881-2883)Aag>Gag p.K961E PCDH11Y_uc010nwg.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fql.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqm.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqn.1_Missense_Mutation_p.K961E|PCDH11Y_uc004fqp.1_Missense_Mutation_p.K732E NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 961 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TACTACTTTCAAGCCTGACAG 0.458