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 AC024560.3 0 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 4 190 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42281493 42281493 + Missense_Mutation SNP A A T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr18:42281493A>T ENST00000282030.5 + 2 478 c.182A>T c.(181-183)gAt>gTt p.D61V SETBP1_ENST00000426838.4_Missense_Mutation_p.D61V NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 61 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GAGGAGGAGGATGAACTAGGC 0.582000 Schinzel-Giedion syndrome 12 114 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161024210 161024210 + Missense_Mutation SNP T T A TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr1:161024210T>A ENST00000368013.3 - 5 802 c.482A>T c.(481-483)cAg>cTg p.Q161L ARHGAP30_ENST00000368016.3_Missense_Mutation_p.Q161L|ARHGAP30_ENST00000368015.1_Intron NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 161 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CATGTTGGTCTGGGCACTGAA 0.597000 13 39 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 6 75 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280362 238280362 + Missense_Mutation SNP G G A TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr2:238280362G>A ENST00000392004.3 - 8 3934 c.3680C>T c.(3679-3681)gCg>gTg p.A1227V COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000295550.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.A1026V NM_057165.4 NP_476506.3 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1434 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AACCTCCGACGCCCCCATCTC 0.478000 5 246 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12416017 12416017 + Missense_Mutation SNP C C G TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr1:12416017C>G ENST00000358136.3 + 48 9871 c.9741C>G c.(9739-9741)aaC>aaG p.N3247K VPS13D_ENST00000356315.4_Missense_Mutation_p.N3222K NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3246 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAACCCAAAACTATATGGTGA 0.438000 5 125 0 0 1 0 0 SH3BGR 6450 broad.mit.edu 37 21 40823936 40823936 + Missense_Mutation SNP G G A TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr21:40823936G>A ENST00000333634.4 + 1 181 c.103G>A c.(103-105)Gct>Act p.A35T SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000380637.3_Intron NM_007341.2 NP_031367.1 P55822 SH3BG_HUMAN SH3 domain binding glutamic acid-rich protein 35 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) CCTGGCACTTGCTTGCCTGTG 0.592000 5 195 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr21:11058353T>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) GAAATCTCTTTATAAAACCTT 0.343000 13 176 0 0 1 0 0 SERF2 10169 broad.mit.edu 37 15 44085945 44085945 + Missense_Mutation SNP A A T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr15:44085945A>T ENST00000381359.1 + 5 1083 c.154A>T c.(154-156)Aac>Tac p.N52Y SERF2_ENST00000409291.1_Intron|SERF2_ENST00000402131.1_Missense_Mutation_p.N38Y|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409960.2_Missense_Mutation_p.Q96H|SERF2_ENST00000409614.1_Missense_Mutation_p.N38Y|SERF2_ENST00000409646.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000403425.1_Missense_Mutation_p.N38Y|SERF2_ENST00000339624.5_Missense_Mutation_p.Q59H|SERF2_ENST00000249786.4_Missense_Mutation_p.N52Y|RP11-296A16.1_ENST00000417761.2_Intron NM_001199877.1 NP_001186806.1 P84101 SERF2_HUMAN small EDRK-rich factor 2 52 cytosol|nucleus lung(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) GAAAAAGGCAAACGAGAAGAA 0.572000 5 189 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 138 0 0 1 0 0 SERF2 10169 broad.mit.edu 37 15 44085952 44085952 + Nonsense_Mutation SNP A A T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr15:44085952A>T ENST00000409960.2 + 3 342 c.295A>T c.(295-297)Aga>Tga p.R99* SERF2_ENST00000409291.1_Intron|SERF2_ENST00000402131.1_Missense_Mutation_p.K40M|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409614.1_Missense_Mutation_p.K40M|SERF2_ENST00000381359.1_Missense_Mutation_p.K54M|SERF2_ENST00000409646.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000403425.1_Missense_Mutation_p.K40M|SERF2_ENST00000339624.5_Nonsense_Mutation_p.R62*|SERF2_ENST00000249786.4_Missense_Mutation_p.K54M|RP11-296A16.1_ENST00000417761.2_Intron NM_001199875.1 NP_001186804.1 P84101 SERF2_HUMAN small EDRK-rich factor 2 0 cytosol|nucleus lung(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) GCAAACGAGAAGAAGGAGGAA 0.562000 6 183 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155026852 155026852 + Missense_Mutation SNP A A G TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr1:155026852A>G ENST00000356955.2 + 6 583 c.482A>G c.(481-483)cAg>cGg p.Q161R ADAM15_ENST00000355956.2_Missense_Mutation_p.Q161R|ADAM15_ENST00000447332.3_Missense_Mutation_p.Q145R|ADAM15_ENST00000360674.4_Missense_Mutation_p.Q161R|ADAM15_ENST00000271836.6_Missense_Mutation_p.Q161R|ADAM15_ENST00000368412.3_Missense_Mutation_p.Q161R|ADAM15_ENST00000531455.1_Missense_Mutation_p.Q171R|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.Q161R|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.Q161R|ADAM15_ENST00000472434.1_3'UTR NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 161 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GGGGACCTTCAGGGTCCTCCC 0.547000 4 199 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 6 173 0 0 1 0 0 NFX1 0 broad.mit.edu 37 9 33294604 33294604 + Missense_Mutation SNP A A G TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr9:33294604A>G ENST00000379540.3 + 2 274 c.212A>G c.(211-213)cAt>cGt p.H71R NFX1_ENST00000318524.6_Missense_Mutation_p.H71R|NFX1_ENST00000379521.4_Missense_Mutation_p.H71R NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 71 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) GTTCATCAGCATAGTTATCAT 0.453000 7 333 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 4 144 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 5 134 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161602 90161602 + RNA SNP T T C rs150689786 by1000genomes TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr16:90161602T>C ENST00000567960.1 + 0 338 TUBB8P7_ENST00000564451.1_RNA GCGGAGCTGATGGAGTCAGTG 0.612000 3 25 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 86069820 86069820 + Missense_Mutation SNP G G T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chrX:86069820G>T ENST00000373131.1 + 9 1791 c.1628G>T c.(1627-1629)gGc>gTc p.G543V DACH2_ENST00000508860.1_Missense_Mutation_p.G389V|DACH2_ENST00000477378.2_Intron|DACH2_ENST00000373125.4_Missense_Mutation_p.G556V|DACH2_ENST00000510272.1_Missense_Mutation_p.G337V NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding p.G556V(9)|p.G543V(9) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 AGTGACAGTGGCCTGAGGATG 0.398000 6 31 5.9392e-07 6.22202e-07 1 1 0 ADCK2 90956 broad.mit.edu 37 7 140374545 140374545 + Silent SNP G G C TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr7:140374545G>C ENST00000072869.4 + 2 1246 c.1068G>C c.(1066-1068)ctG>ctC p.L356L ADCK2_ENST00000476491.1_Silent_p.L356L NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 356 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) TTGAGAAGCTGATGGTCCAAC 0.458000 16 27 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161609 90161609 + RNA SNP A A G rs139928438 by1000genomes TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr16:90161609A>G ENST00000567960.1 + 0 345 TUBB8P7_ENST00000564451.1_RNA TGATGGAGTCAGTGATGGACG 0.617000 3 30 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216251673 216251673 + Missense_Mutation SNP C C T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr1:216251673C>T ENST00000366943.2 - 27 5716 c.5330G>A c.(5329-5331)cGg>cAg p.R1777Q RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.R1777Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1777 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGTATTTAACCGGAAGGTCAA 0.373000 HNSCC(13;0.011) 5 712 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163236410 163236410 + Silent SNP G G A TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr2:163236410G>A ENST00000332142.5 - 14 3183 c.3084C>T c.(3082-3084)taC>taT p.Y1028Y NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 1028 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CCACTTCCCCGTAGGTGAGGT 0.512000 5 311 0 0 1 0 0 CARHSP1 23589 broad.mit.edu 37 16 8952307 8952307 + Missense_Mutation SNP G G A TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr16:8952307G>A ENST00000396593.2 - 3 540 c.181C>T c.(181-183)Ccc>Tcc p.P61S CARHSP1_ENST00000562843.1_Missense_Mutation_p.P61S|CARHSP1_ENST00000311052.5_Missense_Mutation_p.P61S|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000567554.1_Missense_Mutation_p.P61S|CARHSP1_ENST00000561530.1_Missense_Mutation_p.P61S NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3 NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2 Q9Y2V2 CHSP1_HUMAN calcium regulated heat stable protein 1, 24kDa 61 intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|P granule DNA binding|mRNA 3'-UTR binding|phosphatase binding endometrium(2)|lung(1) 3 TTGTAGACGGGGCCCTGTGAA 0.607000 6 81 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 110 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018407 36018407 + Silent SNP T T C TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr19:36018407T>C ENST00000452271.2 - 1 805 c.777A>G c.(775-777)agA>agG p.R259R SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 132 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTGGCCAAATCTCCCTGCCT 0.627000 4 18 0 0 1 0 0 PAWR 5074 broad.mit.edu 37 12 79990400 79990400 + Missense_Mutation SNP T T C TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr12:79990400T>C ENST00000328827.4 - 5 1094 c.722A>G c.(721-723)tAt>tGt p.Y241C NM_002583.2 NP_002574.2 Q96IZ0 PAWR_HUMAN PRKC, apoptosis, WT1, regulator 241 actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 TGTTCGAGAATATCTACTTGA 0.358000 46 76 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73879565 73879565 + Nonsense_Mutation SNP C C T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr11:73879565C>T ENST00000334126.7 - 2 375 c.149G>A c.(148-150)tGg>tAg p.W50* C2CD3_ENST00000313663.7_Nonsense_Mutation_p.W50*|C2CD3_ENST00000539061.1_Nonsense_Mutation_p.W50* Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 50 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TGCAATCTTCCATATGACTCT 0.458000 7 256 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23696258 23696258 + Missense_Mutation SNP T T C TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr12:23696258T>C ENST00000546136.1 - 12 1621 c.1619A>G c.(1618-1620)gAa>gGa p.E540G SOX5_ENST00000545921.1_Missense_Mutation_p.E543G|SOX5_ENST00000309359.1_Missense_Mutation_p.E540G|SOX5_ENST00000396007.2_Missense_Mutation_p.E167G|SOX5_ENST00000451604.2_Missense_Mutation_p.E553G|SOX5_ENST00000537393.1_Missense_Mutation_p.E518G|SOX5_ENST00000381381.2_Missense_Mutation_p.E432G|SOX5_ENST00000541536.1_Missense_Mutation_p.E432G P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 553 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 TATGTGGGGTTCATTGCTACC 0.458000 5 210 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 7 159 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 7 26 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 7 233 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72159821 72159821 + RNA DEL T T - TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr7:72159821delT ENST00000438125.1 - 0 984 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity TCCTTAGTAATTTTTTTTTTT 0.388 9 93 --- --- --- --- PTPLAD2 401494 broad.mit.edu 37 9 21007045 21007046 + Frame_Shift_Ins INS - - T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr9:21007045_21007046insT ENST00000495827.1 - 7 734_735 c.689_690insA c.(688-690)aaafs p.K230fs PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 230 Poly-Lys. fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TTCACATCTTCTTTTTTTTAAT 0.371 7 198 --- --- --- --- TFAM 7019 broad.mit.edu 37 10 60148570 60148570 + Frame_Shift_Del DEL A A - rs78912196 TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr10:60148570delA ENST00000487519.1 + 4 958 c.432delA c.(430-432)acfs p.T144fs TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs NM_003201.1 NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 144 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 AAGCTATGACAAAAAAAAAAG 0.269 13 161 --- --- --- --- TMBIM4 51643 broad.mit.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr12:66531936_66531937insA ENST00000358230.3 - 7 640_641 c.520_521insT c.(520-522)tagfs p.*174fs TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TATCTCACTATAAAAAAAAAAC 0.351 7 104 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 4 9 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 7 90 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 9 270 --- --- --- --- CCDC155 147872 broad.mit.edu 37 19 49920666 49920668 + In_Frame_Del DEL CTG CTG - TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr19:49920666_49920668delCTG ENST00000447857.3 + 20 1793_1795 c.1588_1590delCTG c.(1588-1590)del p.L536del NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 536 Poly-Leu. integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 TGTCCTGGGCctgctgctgctgc 0.650 3 4 --- --- --- --- GFRA4 64096 broad.mit.edu 37 20 3641263 3641264 + Frame_Shift_Del DEL CG CG - TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr20:3641263_3641264delCG ENST00000290417.2 - 4 545_546 c.546_547delCG c.(544-549)cgtgfs p.RV182fs GFRA4_ENST00000319242.3_Frame_Shift_Del_p.RV212fs NM_022139.3|NM_145762.2 NP_071422.1|NP_665705.1 Q9GZZ7 GFRA4_HUMAN GDNF family receptor alpha 4 212 anchored to membrane|extracellular region|plasma membrane receptor activity large_intestine(1)|lung(2) 3 CAGGGCGCCACGCGCGCGCTCA 0.698 2 4 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)del p.Q262del MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 12 119 --- --- --- ---