Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SOX5 6660 broad.mit.edu 37 12 23696176 23696176 + Silent SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr12:23696176G>A ENST00000546136.1 - 12 1703 c.1701C>T c.(1699-1701)gaC>gaT p.D567D SOX5_ENST00000545921.1_Silent_p.D570D|SOX5_ENST00000451604.2_Silent_p.D580D|SOX5_ENST00000381381.2_Silent_p.D459D|SOX5_ENST00000396007.2_Silent_p.D194D|SOX5_ENST00000309359.1_Silent_p.D567D|SOX5_ENST00000541536.1_Silent_p.D459D|SOX5_ENST00000537393.1_Silent_p.D545D P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 580 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 AGTTGTGCATGTCAGGAAAGG 0.438000 18 100 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72948430 72948430 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr17:72948430G>A ENST00000425042.2 - 17 2155 c.2078C>T c.(2077-2079)cCg>cTg p.P693L NM_030630.2 NP_085133.1 HID1 domain containing GGTCTGCAGCGGCAGCTTCGA 0.667000 7 59 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101892219 101892219 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr7:101892219G>A ENST00000360264.3 + 24 4468 c.4448G>A c.(4447-4449)cGc>cAc p.R1483H CUX1_ENST00000550008.2_Missense_Mutation_p.R1416H|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.R1472H|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R1314H|CUX1_ENST00000549414.2_Missense_Mutation_p.R1450H|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R1370H|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1472 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CGGGACTCGCGCGACAACCCC 0.697000 3 17 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr21:11058340A>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGGGTAAAGGAGAGAAATCTC 0.363000 8 140 0 0 1 0 0 IGHA2 3494 broad.mit.edu 37 14 106054585 106054585 + RNA SNP C C A rs113035575 TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr14:106054585C>A ENST00000390539.2 - 0 147 AAGTTTCTGGCGGTCACGTTC 0.642000 10 61 2.74318e-10 3.16119e-10 1 1 0 MROH6 642475 broad.mit.edu 37 8 144650361 144650361 + Missense_Mutation SNP A A G TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr8:144650361A>G ENST00000398882.3 - 11 1971 c.1715T>C c.(1714-1716)gTg>gCg p.V572A MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_Intron|MROH6_ENST00000524906.1_5'UTR NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 ATAGTGGGCCACGGTGACCAA 0.652000 6 26 0 0 1 0 0 TMEM244 253582 broad.mit.edu 37 6 130166922 130166922 + Missense_Mutation SNP C C T rs143949103 by1000genomes TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr6:130166922C>T ENST00000438392.1 - 3 289 c.109G>A c.(109-111)Gtg>Atg p.V37M TMEM244_ENST00000368143.1_Missense_Mutation_p.V37M Q5VVB8 CF191_HUMAN transmembrane protein 244 37 integral to membrane p.V37M(1) TCAAACATCACGCAGCCCATG 0.358000 12 91 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178562959 178562959 + Missense_Mutation SNP C C T rs144554943 TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr5:178562959C>T ENST00000251582.7 - 13 2137 c.2036G>A c.(2035-2037)cGc>cAc p.R679H NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 679 Cys-rich. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GTAGGAGCAGCGCGTCCCGTC 0.637000 16 111 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160607290 160607290 + Missense_Mutation SNP G G T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:160607290G>T ENST00000302035.6 - 2 455 c.106C>A c.(106-108)Ctc>Atc p.L36I SLAMF1_ENST00000538290.1_Missense_Mutation_p.L36I|SLAMF1_ENST00000355199.3_Missense_Mutation_p.L36I|SLAMF1_ENST00000235739.5_Missense_Mutation_p.L36I|SLAMF1_ENST00000494463.1_5'UTR NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 36 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AACTGCCGGAGAATCTTTGGG 0.473000 4 36 0.150653 0.151909 1 1 0 MIR182 406958 broad.mit.edu 37 7 129410237 129410237 + RNA SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr7:129410237C>T ENST00000385255.1 - 0 95 NR_029614.1 CGGCTGAGTCCTCGCCCCATA 0.632000 3 40 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134071698 134071698 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr4:134071698G>A ENST00000264360.4 + 1 1229 c.403G>A c.(403-405)Gcc>Acc p.A135T NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 135 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTCTGAGAGCGCCACGCCAGG 0.607000 30 134 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33068512 33068512 + Nonsense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr21:33068512G>A ENST00000286835.7 - 9 1364 c.982C>T c.(982-984)Cag>Tag p.Q328* SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q328*|SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q313* NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 328 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GCTGGCTGCTGCATGCCATCT 0.418000 39 187 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133196535 133196535 + Missense_Mutation SNP C C A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr8:133196535C>A ENST00000388996.4 - 3 977 c.557G>T c.(556-558)gGc>gTc p.G186V KCNQ3_ENST00000519445.1_Missense_Mutation_p.G186V|KCNQ3_ENST00000521134.1_Missense_Mutation_p.G66V NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 186 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GCCCCGCCAGCCTTTGTATCG 0.542000 30 187 2.08457e-15 2.42531e-15 1 1 0 MROH7 374977 broad.mit.edu 37 1 55175809 55175809 + Silent SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:55175809C>T ENST00000421030.2 + 24 4206 c.3921C>T c.(3919-3921)cgC>cgT p.R1307R MROH7_ENST00000409996.1_Silent_p.R875R|MROH7_ENST00000414150.2_Intron|MROH7_ENST00000454855.2_Silent_p.R825R NM_001039464.2 NP_001034553.2 maestro heat-like repeat family member 7 ACCAGCGGCGCTCCTGGATCA 0.622000 5 37 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179528398 179528398 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr2:179528398G>A ENST00000589042.1 - 171 36712 c.36488C>T c.(36487-36489)gCg>gTg p.A12163V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10312 Ig-like 81. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCCACTGGCGCTTTCTTTTC 0.388000 35 244 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 4 29 0 0 1 0 0 MB21D1 115004 broad.mit.edu 37 6 74135219 74135219 + Missense_Mutation SNP A A G TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr6:74135219A>G ENST00000370315.3 - 5 1394 c.1300T>C c.(1300-1302)Tct>Cct p.S434P MB21D1_ENST00000370318.1_Missense_Mutation_p.S434P NM_138441.2 NP_612450.2 Q8N884 M21D1_HUMAN Mab-21 domain containing 1 434 central_nervous_system(1)|large_intestine(4)|lung(1) 6 TGATAAGAAGAGAATTTATCC 0.373000 7 26 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138806 126138806 + Missense_Mutation SNP A A T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr12:126138806A>T ENST00000299308.3 + 9 2795 c.2787A>T c.(2785-2787)aaA>aaT p.K929N TMEM132B_ENST00000535886.1_Missense_Mutation_p.K441N NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 929 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ACAGACACAAAAGGTTTGCTG 0.502000 9 103 0 0 1 0 0 C20orf194 25943 broad.mit.edu 37 20 3295768 3295768 + Splice_Site SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr20:3295768C>T ENST00000252032.9 - 20 1658 c.e20-1 C20orf194_ENST00000453730.2_Splice_Site|C20orf194_ENST00000498079.1_Splice_Site NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 ACTCATCCCCCTTTAAAAACA 0.388000 16 76 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34546573 34546573 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr15:34546573G>A ENST00000354181.3 - 9 1586 c.1094C>T c.(1093-1095)tCt>tTt p.S365F SLC12A6_ENST00000558589.1_Missense_Mutation_p.S356F|SLC12A6_ENST00000558667.1_Missense_Mutation_p.S365F|SLC12A6_ENST00000451844.2_Missense_Mutation_p.S177F|SLC12A6_ENST00000560164.1_Missense_Mutation_p.S177F|SLC12A6_ENST00000458406.2_Missense_Mutation_p.S306F|SLC12A6_ENST00000397702.2_Missense_Mutation_p.S306F|SLC12A6_ENST00000397707.2_Missense_Mutation_p.S350F|SLC12A6_ENST00000560611.1_Missense_Mutation_p.S365F|SLC12A6_ENST00000290209.5_Missense_Mutation_p.S314F Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 365 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AGCAAAAGAAGACTTGATGGC 0.453000 4 145 0 0 1 0 0 KCNA2 3737 broad.mit.edu 37 1 111146157 111146157 + Silent SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:111146157G>A ENST00000485317.1 - 3 1921 c.1248C>T c.(1246-1248)ttC>ttT p.F416F KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Silent_p.F416F|KCNA2_ENST00000316361.4_Silent_p.F416F P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 416 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CCCGGTGGTAGAAGTAGTTGA 0.488000 18 91 0 0 1 0 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr9:35906559A>C ENST00000354323.2 + 1 371 c.275A>C c.(274-276)cAc>cCc p.H92P NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane p.H92P(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 3 11 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328944 88328944 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr13:88328944G>A ENST00000325089.6 + 2 1520 c.1301G>A c.(1300-1302)gGg>gAg p.G434E SLITRK5_ENST00000400028.3_Missense_Mutation_p.G193E NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 434 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GAGGCCACGGGGCTGGACCTC 0.572000 6 72 0 0 1 0 0 PTP4A2 8073 broad.mit.edu 37 1 32377362 32377362 + Missense_Mutation SNP T T A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:32377362T>A ENST00000344035.6 - 4 1248 c.255A>T c.(253-255)ttA>ttT p.L85F PTP4A2_ENST00000602725.1_Missense_Mutation_p.L85F|PTP4A2_ENST00000470404.1_Intron|PTP4A2_ENST00000457805.2_Missense_Mutation_p.L54F|PTP4A2_ENST00000356536.3_Intron|RP11-84A19.4_ENST00000602889.1_lincRNA NM_080391.3 NP_536316.1 Q12974 TP4A2_HUMAN protein tyrosine phosphatase type IVA, member 2 85 Tyrosine-protein phosphatase. early endosome|plasma membrane prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) ATTTGGTTTTTAACAGGTTTA 0.383000 14 73 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170489726 170489726 + Missense_Mutation SNP C C A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr2:170489726C>A ENST00000260970.3 + 12 1206 c.986C>A c.(985-987)tCt>tAt p.S329Y PPIG_ENST00000448752.2_Missense_Mutation_p.S329Y|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.S314Y|PPIG_ENST00000462903.1_Missense_Mutation_p.S329Y NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 329 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) GTTACTAGATCTGGCAGGAAA 0.373000 10 37 1.58986e-06 1.76489e-06 1 1 0 MUC17 140453 broad.mit.edu 37 7 100676343 100676343 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr7:100676343G>A ENST00000306151.4 + 3 1710 c.1646G>A c.(1645-1647)aGt>aAt p.S549N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 549 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGTGAAGCCAGTTCATCTTCT 0.512000 205 530 0 0 1 0 0 LZTS1 11178 broad.mit.edu 37 8 20107511 20107511 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr8:20107511C>T ENST00000381569.1 - 4 1870 c.1513G>A c.(1513-1515)Gag>Aag p.E505K LZTS1_ENST00000265801.6_Missense_Mutation_p.E505K|LZTS1_ENST00000522290.1_Intron Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 505 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) CGCAGCCGCTCCAGCTCCCGC 0.716000 12 97 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30727716 30727716 + Silent SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr16:30727716G>A ENST00000262518.4 + 18 3118 c.2733G>A c.(2731-2733)ccG>ccA p.P911P SRCAP_ENST00000344771.4_Silent_p.P911P|SRCAP_ENST00000395059.2_Silent_p.P911P NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 911 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) ACCCTCGACCGGTTACCTCCC 0.512000 6 545 0 0 1 0 0 LRRC17 10234 broad.mit.edu 37 7 102580025 102580025 + Silent SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr7:102580025C>T ENST00000249377.4 + 3 1202 c.921C>T c.(919-921)atC>atT p.I307I FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000339431.4_Silent_p.I307I|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 307 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 TTGAATTCATCGATCCTGGTA 0.373000 14 104 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67709344 67709344 + Missense_Mutation SNP C C T rs142100170 byFrequency TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr15:67709344C>T ENST00000335894.4 + 15 2239 c.2173C>T c.(2173-2175)Cgg>Tgg p.R725W IQCH_ENST00000358767.3_Missense_Mutation_p.R461W|IQCH_ENST00000360277.4_Missense_Mutation_p.R386W|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.R382W NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 725 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CAATGAGAAACGGTTCCCGAC 0.443000 13 45 0 0 1 0 0 AKR7A3 22977 broad.mit.edu 37 1 19612764 19612764 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:19612764C>T ENST00000361640.4 - 2 857 c.317G>A c.(316-318)cGa>cAa p.R106Q NM_012067.2 NP_036199.2 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 106 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity p.R106Q(1) NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GAGGTCCACTCGGGGACACTG 0.592000 26 129 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108620880 108620880 + Silent SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr12:108620880G>A ENST00000332082.4 + 7 1736 c.918G>A c.(916-918)gcG>gcA p.A306A WSCD2_ENST00000547525.1_Silent_p.A306A|WSCD2_ENST00000549903.1_Silent_p.A306A|WSCD2_ENST00000261400.3_Silent_p.A306A Q2TBF2 WSCD2_HUMAN WSC domain containing 2 306 WSC 2. integral to membrane p.A306A(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 AGTGCAGCGCGGAGGAGTTTG 0.592000 20 99 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1843078 1843078 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr2:1843078C>T ENST00000399161.2 - 21 3670 c.2923G>A c.(2923-2925)Gcc>Acc p.A975T MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000428368.2_Missense_Mutation_p.A973T NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 975 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CACCCGGAGGCGCTGCGATGG 0.632000 17 98 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44778750 44778750 + Missense_Mutation SNP A A C TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr19:44778750A>C ENST00000391958.2 + 5 2064 c.1937A>C c.(1936-1938)aAa>aCa p.K646T ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.K628T NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) ACTGGAGAGAAACCATACAAA 0.418000 45 61 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716227 13716227 + Silent SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr12:13716227G>A ENST00000279593.3 - 13 4154 c.3945C>T c.(3943-3945)gcC>gcT p.A1315A NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1315 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGGCCAGGGCGGCTTCTTCCT 0.597000 23 117 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85345396 85345396 + Silent SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr15:85345396G>A ENST00000299927.3 + 8 3598 c.3576G>A c.(3574-3576)gcG>gcA p.A1192A ZNF592_ENST00000560079.2_Silent_p.A1192A Q92610 ZN592_HUMAN zinc finger protein 592 1192 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CGGCGGCAGCGGAGATGGCAG 0.617000 7 25 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 79971609 79971609 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr2:79971609G>A ENST00000466387.1 + 7 923 c.199G>A c.(199-201)Gcc>Acc p.A67T CTNNA2_ENST00000402739.4_Missense_Mutation_p.A67T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A101T P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 67 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TGTAGAGCAAGCCACTCAGAA 0.468000 5 49 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169315637 169315637 + Silent SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr4:169315637G>A ENST00000511577.1 - 28 4036 c.3789C>T c.(3787-3789)ctC>ctT p.L1263L DDX60L_ENST00000505890.1_Silent_p.L1264L|DDX60L_ENST00000260184.7_Silent_p.L1263L Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1263 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CTTTTACAAAGAGTATCTCAA 0.323000 4 28 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411686 51411686 + Missense_Mutation SNP C C A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr11:51411686C>A ENST00000319760.6 - 1 762 c.710G>T c.(709-711)tGc>tTc p.C237F NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) GCCGGAGCTGCAGGTAGACAA 0.408000 12 70 6.40141e-05 6.79448e-05 1 1 0 HERC2P9 440248 broad.mit.edu 37 15 28900606 28900606 + RNA SNP C C T rs150642820 by1000genomes TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr15:28900606C>T ENST00000528584.1 + 0 162 NR_036443.1 TGGTGAAGAGCGGTGCAGCAG 0.612000 5 24 0 0 1 0 0 HIST1H3H 8357 broad.mit.edu 37 6 27777869 27777869 + Missense_Mutation SNP G G T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr6:27777869G>T ENST00000369163.2 + 1 28 c.18G>T c.(16-18)caG>caT p.Q6H NM_003536.2 NP_003527.1 P68431 H31_HUMAN histone cluster 1, H3h 6 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3) 10 GTACGAAGCAGACTGCTCGCA 0.582000 13 106 9.31168e-06 1.01506e-05 1 1 0 ACSL6 23305 broad.mit.edu 37 5 131329909 131329909 + Nonsense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr5:131329909G>A ENST00000379264.2 - 2 193 c.85C>T c.(85-87)Cag>Tag p.Q29* ACSL6_ENST00000379249.3_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379244.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000379246.1_Nonsense_Mutation_p.Q15*|ACSL6_ENST00000431707.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000379272.2_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379240.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000296869.4_Nonsense_Mutation_p.Q29*|ACSL6_ENST00000543479.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000379255.1_Nonsense_Mutation_p.Q4*|ACSL6_ENST00000357096.1_Nonsense_Mutation_p.Q4* NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 4 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGATCTCCTGTGTCTGCATC 0.557000 6 23 0 0 1 0 0 SLFNL1 200172 broad.mit.edu 37 1 41483450 41483450 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:41483450G>A ENST00000359345.1 - 2 3390 c.814C>T c.(814-816)Cgc>Tgc p.R272C SLFNL1_ENST00000439569.2_Missense_Mutation_p.R272C|SLFNL1_ENST00000372613.2_Missense_Mutation_p.R272C|SLFNL1_ENST00000372611.1_Missense_Mutation_p.R213C|SLFNL1_ENST00000302946.8_Missense_Mutation_p.R272C|SLFNL1_ENST00000397197.2_Missense_Mutation_p.R272C NM_144990.3 NP_659427.3 Q499Z3 SLNL1_HUMAN schlafen-like 1 272 ATP binding endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) TGGCTGCAGCGGATGCCCTGC 0.647000 14 100 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3599708 3599708 + Silent SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:3599708C>T ENST00000378295.4 + 3 305 c.150C>T c.(148-150)gaC>gaT p.D50D TP73_ENST00000346387.4_Silent_p.D50D|TP73_ENST00000604074.1_Silent_p.D50D|TP73_ENST00000357733.3_Silent_p.D50D|TP73_ENST00000354437.4_Silent_p.D50D|TP73_ENST00000603362.1_Silent_p.D50D|TP73_ENST00000604479.1_Silent_p.D50D NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 50 Asp/Glu-rich (acidic). cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CCAGCATGGACGTCTTCCACC 0.602000 22 130 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149459795 149459795 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr5:149459795C>T ENST00000286301.3 - 4 703 c.412G>A c.(412-414)Gtc>Atc p.V138I CSF1R_ENST00000543093.1_Missense_Mutation_p.V138I NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 138 Ig-like C2-type 2. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) ACCAGCGAGACGCCTGCTTCC 0.637000 10 61 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33065709 33065709 + Nonsense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr21:33065709G>A ENST00000286835.7 - 12 1793 c.1411C>T c.(1411-1413)Cga>Tga p.R471* SCAF4_ENST00000399804.1_Nonsense_Mutation_p.R471*|SCAF4_ENST00000434667.3_Nonsense_Mutation_p.R456* NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 471 nucleus nucleotide binding|RNA binding p.R471*(1) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GGAGAATGTCGGCGTCTATCC 0.498000 10 56 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50278661 50278661 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr18:50278661C>T ENST00000442544.2 + 2 945 c.329C>T c.(328-330)cCa>cTa p.P110L DCC_ENST00000412726.1_5'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 110 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CACCACAAGCCAGATGAGGGA 0.448000 13 102 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23811363 23811363 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr15:23811363C>T ENST00000314520.3 + 1 910 c.434C>T c.(433-435)aCg>aTg p.T145M MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 145 T -> M (in a colorectal cancer sample; somatic mutation). ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.T145M(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGCCCTAGCACGGCTGCGCAC 0.652000 7 68 0 0 1 0 0 GRAMD3 65983 broad.mit.edu 37 5 125813462 125813462 + Missense_Mutation SNP G G T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr5:125813462G>T ENST00000285689.3 + 6 1026 c.565G>T c.(565-567)Gca>Tca p.A189S GRAMD3_ENST00000511134.1_Missense_Mutation_p.A173S|GRAMD3_ENST00000513040.1_Missense_Mutation_p.A204S|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000543198.1_Missense_Mutation_p.A166S|GRAMD3_ENST00000544396.1_Missense_Mutation_p.A85S|GRAMD3_ENST00000542322.1_Missense_Mutation_p.A197S|GRAMD3_ENST00000502348.1_Missense_Mutation_p.A80S|GRAMD3_ENST00000515200.1_Missense_Mutation_p.A166S NM_023927.2 NP_076416.2 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 189 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) CCTGATCATAGCAACAGTCAC 0.493000 15 89 9.16793e-09 1.03675e-08 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1269115 1269115 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr11:1269115G>A ENST00000447027.1 + 31 11072 c.11014G>A c.(11014-11016)Ggc>Agc p.G3672S MUC5B_ENST00000529681.1_Missense_Mutation_p.G3669S|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3669 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTGCAACTACGGCCACTGCCC 0.592000 32 246 0 0 1 0 0 WDR19 57728 broad.mit.edu 37 4 39245929 39245929 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr4:39245929G>A ENST00000399820.3 + 22 2637 c.2483G>A c.(2482-2484)cGt>cAt p.R828H WDR19_ENST00000288634.7_Missense_Mutation_p.R668H NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 828 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 GGAGACATACGTCGAGGGGTT 0.468000 12 104 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105923623 105923623 + Missense_Mutation SNP T T G TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr11:105923623T>G ENST00000526793.1 - 3 1952 c.1793A>C c.(1792-1794)cAg>cCg p.Q598P KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q598P|KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q519P NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 594 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TTTATTAAACTGAATCACCTG 0.378000 8 71 0 0 1 0 0 CSF1 1435 broad.mit.edu 37 1 110466000 110466000 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:110466000C>T ENST00000329608.6 + 6 1148 c.757C>T c.(757-759)Cca>Tca p.P253S CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Missense_Mutation_p.P253S|CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000344188.5_Missense_Mutation_p.P253S NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 253 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CAAGCAGCGGCCACCCAGGAG 0.652000 OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 82 0 0 1 0 0 TMEM200C 645369 broad.mit.edu 37 18 5891942 5891942 + Missense_Mutation SNP C C A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr18:5891942C>A ENST00000581347.1 - 3 766 c.121G>T c.(121-123)Gtg>Ttg p.V41L TMEM200C_ENST00000383490.2_Missense_Mutation_p.V41L|RP11-945C19.4_ENST00000577694.1_RNA A6NKL6 T200C_HUMAN transmembrane protein 200C 41 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 CCTTTCACCACCACCACGTCG 0.602000 8 42 3.09899e-07 3.47201e-07 1 1 0 ZMAT4 79698 broad.mit.edu 37 8 40554763 40554763 + Splice_Site SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr8:40554763C>T ENST00000297737.6 - 4 496 c.e4+1 ZMAT4_ENST00000315769.7_Splice_Site NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CCTGCACGTACCTGTGGTCTT 0.517000 18 192 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 58967129 58967129 + Missense_Mutation SNP C C G TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr17:58967129C>G ENST00000589222.1 + 10 803 c.735C>G c.(733-735)aaC>aaG p.N245K BCAS3_ENST00000408905.3_Missense_Mutation_p.N245K|BCAS3_ENST00000588462.1_Missense_Mutation_p.N245K|BCAS3_ENST00000588874.1_Missense_Mutation_p.N16K|BCAS3_ENST00000390652.5_Missense_Mutation_p.N245K|BCAS3_ENST00000585744.1_Missense_Mutation_p.N16K|BCAS3_ENST00000407086.3_Missense_Mutation_p.N245K Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 245 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) ATGCAGAAAACAAGGTAAGAC 0.408000 11 54 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179605415 179605415 + Missense_Mutation SNP T T C TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr2:179605415T>C ENST00000589042.1 - 48 12769 c.12545A>G c.(12544-12546)gAg>gGg p.E4182G TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E3865G|TTN_ENST00000342175.6_Missense_Mutation_p.E4011G|TTN_ENST00000460472.2_Missense_Mutation_p.E3819G|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3944G|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3865 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAAGATTTTCTCGGTATCTGA 0.413000 21 69 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11141427 11141427 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr19:11141427G>A ENST00000358026.2 + 25 3688 c.3404G>A c.(3403-3405)cGg>cAg p.R1135Q SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1135Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1135Q NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1135 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCGGAGGACCGGGGCATGCTG 0.632000 """F, N, Mis""" NSCLC 8 13 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 622886 622886 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr19:622886G>A ENST00000588649.2 - 7 1474 c.1390C>T c.(1390-1392)Cgg>Tgg p.R464W NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 464 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGTGAGAACCGGCCCTCGTAC 0.682000 14 14 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176760546 176760546 + Nonsense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:176760546C>T ENST00000367662.3 + 19 6112 c.4948C>T c.(4948-4950)Caa>Taa p.Q1650* NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1650 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGAGAATCTGCAAGGAGAATG 0.423000 5 62 0 0 1 0 0 CUEDC1 404093 broad.mit.edu 37 17 55946537 55946537 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr17:55946537G>A ENST00000577830.1 - 7 1299 c.886C>T c.(886-888)Ccc>Tcc p.P296S CUEDC1_ENST00000577840.1_Missense_Mutation_p.P159S|CUEDC1_ENST00000578357.1_5'UTR|CUEDC1_ENST00000360238.2_Missense_Mutation_p.P296S|CUEDC1_ENST00000407144.2_Missense_Mutation_p.P296S NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 296 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 GACACAGCGGGGTTGGCGTCG 0.607000 6 28 0 0 1 0 0 PPOX 5498 broad.mit.edu 37 1 161138364 161138364 + Missense_Mutation SNP C C A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:161138364C>A ENST00000367999.4 + 6 880 c.614C>A c.(613-615)gCa>gAa p.A205E PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.A205E NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 205 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CTGCTGGGGGCAGGTGAGGGG 0.502000 11 63 3.07112e-06 3.37823e-06 1 1 0 AJUBA 84962 broad.mit.edu 37 14 23444276 23444276 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr14:23444276C>T ENST00000262713.2 - 5 1652 c.1277G>A c.(1276-1278)tGt>tAt p.C426Y RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.C426Y|AJUBA_ENST00000397388.3_Missense_Mutation_p.C9Y NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 426 LIM zinc-binding 2. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding GCATCGGAAACAGCCTGGATG 0.517000 13 71 0 0 1 0 0 OR5W2 390148 broad.mit.edu 37 11 55681455 55681455 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr11:55681455C>T ENST00000344514.1 - 1 603 c.604G>A c.(604-606)Gtc>Atc p.V202I NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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 AAACCAAAGACGGTGAATAAC 0.388000 8 77 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68312482 68312482 + Missense_Mutation SNP A A T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr11:68312482A>T ENST00000393799.2 + 4 671 c.404A>T c.(403-405)aAa>aTa p.K135I PPP6R3_ENST00000393800.2_Missense_Mutation_p.K135I|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K135I|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K135I|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K135I|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K44I|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K135I|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K135I|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K135I|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K135I Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 135 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 ATCAGCAGAAAACCAGAACAG 0.388000 5 61 0 0 1 0 0 GALNT11 63917 broad.mit.edu 37 7 151800369 151800369 + Nonsense_Mutation SNP G G T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr7:151800369G>T ENST00000415421.1 + 5 947 c.592G>T c.(592-594)Gaa>Taa p.E198* GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000434507.1_Intron|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000320311.2_Intron|GALNT11_ENST00000430044.2_Intron Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 0 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) CTTTGGTAAGGAATGCTGCAC 0.498000 5 30 0.217242 0.217242 1 1 0 FAM189A2 9413 broad.mit.edu 37 9 72006659 72006659 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr9:72006659G>A ENST00000257515.8 + 11 1712 c.1292G>A c.(1291-1293)cGg>cAg p.R431Q FAM189A2_ENST00000303068.7_Missense_Mutation_p.R266Q|FAM189A2_ENST00000377216.3_Missense_Mutation_p.R218Q|FAM189A2_ENST00000455972.1_Missense_Mutation_p.R431Q NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 431 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 AGGAGGCCCCGGCGAGTGGAG 0.667000 8 36 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172835185 172835185 + Missense_Mutation SNP G G T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr3:172835185G>T ENST00000351008.3 - 2 520 c.337C>A c.(337-339)Cct>Act p.P113T NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 113 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GGGATGTGAGGCAGAGGCATG 0.413000 10 69 2.17888e-05 2.35397e-05 1 1 0 FREM1 158326 broad.mit.edu 37 9 14808085 14808085 + Missense_Mutation SNP C C G TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr9:14808085C>G ENST00000380881.4 - 18 3759 c.2944G>C c.(2944-2946)Gtt>Ctt p.V982L FREM1_ENST00000422223.2_Missense_Mutation_p.V981L|FREM1_ENST00000380880.3_Missense_Mutation_p.V981L Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 981 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CCATCCGAAACCACCAATGTA 0.448000 21 90 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70367763 70367763 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chrX:70367763G>A ENST00000374051.3 + 2 486 c.164G>A c.(163-165)cGa>cAa p.R55Q NLGN3_ENST00000358741.3_Missense_Mutation_p.R55Q|NLGN3_ENST00000536169.1_Missense_Mutation_p.R55Q NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 55 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) AGGGGTGCCCGAGTACCACTG 0.627000 8 10 0 0 1 0 0 TRBV10-2 28584 broad.mit.edu 37 7 142206745 142206745 + RNA SNP T T G TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr7:142206745T>G ENST00000426318.2 - 0 160 CAAGGTCACCTGCCTTCCTGT 0.498000 23 111 0 0 1 0 0 IARS 3376 broad.mit.edu 37 9 95004436 95004436 + Splice_Site SNP C C G TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr9:95004436C>G ENST00000375643.3 - 29 3443 c.3177_splice c.e29+1 p.Q1059_splice IARS_ENST00000447699.2_Splice_Site_p.Q949_splice|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000375629.3_Splice_Site_p.Q112_splice|IARS_ENST00000375627.1_Splice_Site_p.Q112_splice|IARS_ENST00000443024.2_Splice_Site_p.Q1059_splice NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 1059 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) CAGGACTCACCTGTGTTTTTT 0.413000 16 80 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12958063 12958063 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr8:12958063G>A ENST00000276297.4 - 9 2192 c.1783C>T c.(1783-1785)Cgc>Tgc p.R595C DLC1_ENST00000520226.1_Missense_Mutation_p.R84C|DLC1_ENST00000358919.2_Missense_Mutation_p.R158C|DLC1_ENST00000512044.2_Missense_Mutation_p.R192C NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 595 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CTGAGGCTGCGGACGGAAGAC 0.701000 17 116 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240003803 240003803 + Missense_Mutation SNP C C A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr2:240003803C>A ENST00000345617.3 - 21 3423 c.2632G>T c.(2632-2634)Gat>Tat p.D878Y HDAC4_ENST00000543185.1_Missense_Mutation_p.D462Y NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 878 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CCTACCTCATCAGGAGCCCCG 0.657000 24 134 4.43304e-23 5.20774e-23 1 1 0 RNF219 79596 broad.mit.edu 37 13 79189852 79189852 + Missense_Mutation SNP G G C TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr13:79189852G>C ENST00000282003.6 - 6 2102 c.2044C>G c.(2044-2046)Ctt>Gtt p.L682V RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 682 Ser-rich. zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) TGGTTATGAAGACTGTGCATC 0.388000 28 101 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534289 534289 + Missense_Mutation SNP C C T rs104894229 TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr11:534289C>T ENST00000417302.1 - 2 221 c.34G>A c.(34-36)Ggc>Agc p.G12S HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 12 G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12S(58)|p.G12C(25)|p.G12R(12) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CCCACACCGCCGGCGCCCACC 0.647000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 11 63 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66067341 66067341 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:66067341C>T ENST00000349533.6 + 9 1446 c.1261C>T c.(1261-1263)Cgc>Tgc p.R421C LEPR_ENST00000371059.3_Missense_Mutation_p.R421C|LEPR_ENST00000371060.3_Missense_Mutation_p.R421C|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.R421C|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.R421C NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 421 Ig-like. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ATGCCATCATCGCTATGCTGA 0.358000 5 26 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173952657 173952657 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:173952657C>T ENST00000367696.2 - 4 842 c.491G>A c.(490-492)cGa>cAa p.R164Q RC3H1_ENST00000367694.2_Missense_Mutation_p.R164Q|RC3H1_ENST00000258349.4_Missense_Mutation_p.R164Q Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 164 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TGTAACTGTTCGTTCACCTAA 0.512000 13 67 0 0 1 0 0 PRSS53 339105 broad.mit.edu 37 16 31097782 31097782 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr16:31097782C>T ENST00000280606.6 - 5 692 c.539G>A c.(538-540)cGt>cAt p.R180H NM_001039503.2 NP_001034592.1 Q2L4Q9 PRS53_HUMAN protease, serine, 53 180 Peptidase S1 1. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1)|lung(3) 4 ACTGATGAGACGCAGGCGCAG 0.622000 14 52 0 0 1 0 0 NCOA4 8031 broad.mit.edu 37 10 51580587 51580587 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr10:51580587G>A ENST00000452682.1 + 4 473 c.221G>A c.(220-222)cGt>cAt p.R74H NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000430396.2_5'UTR|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.R58H|NCOA4_ENST00000374087.4_Missense_Mutation_p.R58H|NCOA4_ENST00000443446.1_Missense_Mutation_p.R58H|NCOA4_ENST00000374082.1_Missense_Mutation_p.R58H|NCOA4_ENST00000438493.1_Missense_Mutation_p.R74H NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 58 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 TGCATAAGCCGTCACCTGGAA 0.433000 T RET papillary thyroid 25 140 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65268712 65268712 + RNA SNP T T G TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr11:65268712T>G ENST00000534336.1 + 0 3480 NR_002819.2 TTTGTGGGGGTGGGGGCAAAA 0.393000 8 21 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155450764 155450764 + Missense_Mutation SNP C C A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:155450764C>A ENST00000368346.3 - 3 2536 c.1897G>T c.(1897-1899)Gta>Tta p.V633L ASH1L_ENST00000392403.3_Missense_Mutation_p.V633L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 633 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GAATCATTTACCTCTTTATCA 0.353000 6 56 0.00116845 0.00121881 1 1 0 EPHX4 253152 broad.mit.edu 37 1 92528795 92528795 + Silent SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:92528795C>T ENST00000370383.4 + 7 1139 c.1041C>T c.(1039-1041)aaC>aaT p.N347N NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 347 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 ACATAGTGAACAAATTGATAT 0.313000 7 31 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 48 0 0 1 0 0 CDK8 1024 broad.mit.edu 37 13 26959417 26959417 + Missense_Mutation SNP T T C TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr13:26959417T>C ENST00000381527.3 + 6 1087 c.584T>C c.(583-585)gTt>gCt p.V195A CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 195 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) CCAGTGGTTGTTACATTCTGG 0.358000 11 52 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38775449 38775449 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr6:38775449C>T ENST00000359357.3 + 22 2817 c.2563C>T c.(2563-2565)Cgg>Tgg p.R855W DNAH8_ENST00000449981.2_Missense_Mutation_p.R1072W|DNAH8_ENST00000441566.1_Missense_Mutation_p.R855W dynein, axonemal, heavy chain 8 p.R855W(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAAAGCTACACGGTTATCTCT 0.328000 8 62 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9003333 9003333 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr19:9003333C>T ENST00000397910.4 - 50 40305 c.40102G>A c.(40102-40104)Gtc>Atc p.V13368I MUC16_ENST00000380951.5_Missense_Mutation_p.V9I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13370 SEA 9. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGAGCTGACACTGGTGTTC 0.532000 31 51 0 0 1 0 0 WDR1 9948 broad.mit.edu 37 4 10083028 10083028 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr4:10083028C>T ENST00000382452.2 - 11 1519 c.1237G>A c.(1237-1239)Gta>Ata p.V413I WDR1_ENST00000502702.1_Missense_Mutation_p.V273I|WDR1_ENST00000382451.2_Missense_Mutation_p.V273I|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Missense_Mutation_p.V413I NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 413 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CCGACGGCTACGCACTTTGGC 0.572000 13 79 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10265093 10265093 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr19:10265093G>A ENST00000340748.4 - 21 2082 c.1847C>T c.(1846-1848)aCg>aTg p.T616M DNMT1_ENST00000359526.4_Missense_Mutation_p.T632M|DNMT1_ENST00000540357.1_Missense_Mutation_p.T616M P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 616 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GGTGGCTTTCGTGGGTCCCCT 0.547000 102 141 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764239 82764239 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr7:82764239G>A ENST00000423517.2 - 3 2964 c.2627C>T c.(2626-2628)cCa>cTa p.P876L PCLO_ENST00000333891.8_Missense_Mutation_p.P876L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 822 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity 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 AGGGGGTGTTGGTGACCCTTT 0.517000 52 270 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4619834 4619834 + Silent SNP G G C TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr17:4619834G>C ENST00000269260.2 + 5 521 c.288G>C c.(286-288)cgG>cgC p.R96R ARRB2_ENST00000381488.6_Silent_p.R81R|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.R96R|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.R81R|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.R96R|ARRB2_ENST00000570718.1_3'UTR NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 96 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 ACCCACCCCGGCCCCCCACCC 0.672000 7 14 0 0 1 0 0 IFNGR2 3460 broad.mit.edu 37 21 34809233 34809233 + Silent SNP G G A rs17885407 byFrequency TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr21:34809233G>A ENST00000290219.6 + 7 1626 c.978G>A c.(976-978)ccG>ccA p.P326P TMEM50B_ENST00000468874.2_5'UTR|IFNGR2_ENST00000381995.1_Silent_p.P345P|IFNGR2_ENST00000405436.1_Silent_p.P247P NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 326 regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity p.P326P(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) TCTCGTTTCCGGAAAAGGAGC 0.502000 6 53 0 0 1 0 0 FXR1 8087 broad.mit.edu 37 3 180688142 180688142 + Silent SNP G G T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr3:180688142G>T ENST00000357559.4 + 15 1983 c.1599G>T c.(1597-1599)ggG>ggT p.G533G FXR1_ENST00000445140.2_Silent_p.G533G|FXR1_ENST00000491062.1_Silent_p.G484G|FXR1_ENST00000468861.1_Silent_p.G448G|FXR1_ENST00000480918.1_Silent_p.G520G|FXR1_ENST00000305586.7_Silent_p.G448G NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 533 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) ATGAAAATGGGCTAGGTATGT 0.323000 7 71 0.00307968 0.00313144 1 1 0 TECPR2 9895 broad.mit.edu 37 14 102898197 102898197 + Silent SNP G G T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr14:102898197G>T ENST00000359520.7 + 8 1375 c.1149G>T c.(1147-1149)ctG>ctT p.L383L TECPR2_ENST00000558678.1_Silent_p.L383L NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 383 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CGGAGAAGCTGCCAGGGGCCA 0.582000 7 132 0.00307968 0.00313144 1 1 0 SLC17A9 63910 broad.mit.edu 37 20 61597910 61597910 + Silent SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr20:61597910G>A ENST00000370349.3 + 12 1281 c.1077G>A c.(1075-1077)ccG>ccA p.P359P SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.P365P Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 365 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 ACTTGGCCCCGTCCTGCGCCG 0.647000 45 174 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3267060 3267060 + Missense_Mutation SNP G G C TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr8:3267060G>C ENST00000602557.1 - 14 2187 c.1632C>G c.(1630-1632)ttC>ttG p.F544L CSMD1_ENST00000400186.3_Missense_Mutation_p.F544L|CSMD1_ENST00000520002.1_Missense_Mutation_p.F544L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F543L|CSMD1_ENST00000539096.1_Missense_Mutation_p.F543L|CSMD1_ENST00000537824.1_Missense_Mutation_p.F543L|CSMD1_ENST00000602723.1_Missense_Mutation_p.F544L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 544 Sushi 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTCCATGGAGGAAACTGCTGC 0.507000 6 13 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54544333 54544333 + Splice_Site SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr19:54544333G>A ENST00000338372.2 - 9 768 c.591_splice c.e9-1 p.T198_splice VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Splice_Site_p.T167_splice|VSTM1_ENST00000366170.2_Splice_Site_p.T110_splice NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 198 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) GGGGTCTGCCGTCTTTGGAGA 0.453000 8 22 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47034444 47034444 + Silent SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr4:47034444C>T ENST00000295454.3 + 3 475 c.183C>T c.(181-183)gtC>gtT p.V61V GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_Intron NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 61 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGCCCCCCGTCGACGTTGGGA 0.627000 46 238 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148907754 148907754 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr7:148907754C>T ENST00000262085.3 + 5 1015 c.910C>T c.(910-912)Cgg>Tgg p.R304W ZNF282_ENST00000479907.1_Missense_Mutation_p.R304W NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 304 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CCGGGGTCAGCGGGGCCTGGA 0.642000 5 21 0 0 1 0 0 C5orf34 375444 broad.mit.edu 37 5 43506091 43506091 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr5:43506091G>A ENST00000306862.2 - 4 1066 c.691C>T c.(691-693)Cac>Tac p.H231Y RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968.1 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 231 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) ACACATGTGTGCTTTGTACCA 0.423000 15 128 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16960898 16960913 + RNA DEL GTGTGTGTGTGTGTGC GTGTGTGTGTGTGTGC - rs71703041 by1000genomes TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:16960898_16960913delGTGTGTGTGTGTGTGC ENST00000412962.1 - 0 16 gtgtgtgtgtgtgtgtgtgtgtgtgcgcgtgtgtgA 0.431 2 4 --- --- --- --- SFN 2810 broad.mit.edu 37 1 27190360 27190363 + Frame_Shift_Del DEL CATG CATG - TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr1:27190360_27190363delCATG ENST00000339276.4 + 1 728_731 c.657_660delCATG c.(655-660)atfs p.IM219fs NM_006142.3 NP_006133.1 P31947 1433S_HUMAN stratifin 219 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 9 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) GCACCCTCATCATGCAGCTGCTGC 0.642 30 166 --- --- --- --- ZNF660 285349 broad.mit.edu 37 3 44636019 44636019 + Frame_Shift_Del DEL G G - TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr3:44636019delG ENST00000322734.2 + 3 667 c.334delG c.(334-336)ggfs p.G112fs RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CAGTGAATGTGGGAAATCTTT 0.438 19 105 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 3 5 --- --- --- --- AQP11 282679 broad.mit.edu 37 11 77301070 77301072 + In_Frame_Del DEL GCA GCA - TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr11:77301070_77301072delGCA ENST00000313578.3 + 1 391_393 c.33_35delGCA c.(31-36)ctg>ct p.LQ11del AQP11_ENST00000528638.1_Intron NM_173039.2 NP_766627.1 Q8NBQ7 AQP11_HUMAN aquaporin 11 11 cell surface|integral to membrane transporter activity kidney(2)|large_intestine(1)|lung(5) 8 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) GGTCCGAGCTGCAGGACACCTGC 0.724 9 37 --- --- --- --- PRKD1 5587 broad.mit.edu 37 14 30396622 30396623 + In_Frame_Ins INS - - CCCGGA rs139860047 by1000genomes TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 638b8daa-53b7-47ca-847e-542e7f7f439a b76a5229-61b4-4820-ae31-f656156779f0 g.chr14:30396622_30396623insCCCGGA ENST00000331968.5 - 1 325_326 c.96_97insTCCGGG c.(94-99)ggccgg>ggTCCGGGccgg p.35_36insGP PRKD1_ENST00000415220.2_In_Frame_Ins_p.35_36insGP NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 35 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GCGGGCCCGGGCCCGGACCCTG 0.762 3 3 --- --- --- ---