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 TACR3 6870 broad.mit.edu 37 4 104510921 104510921 + Missense_Mutation SNP C C A TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr4:104510921C>A ENST00000304883.2 - 5 1456 c.1316G>T c.(1315-1317)tGc>tTc p.C439F RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 439 C -> F (in Ref. 3; CAA46291). integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) CCTGCGAGAGCAGCCATTGAA 0.478000 4 174 0.217242 0.230021 1 1 0 NLRP6 171389 broad.mit.edu 37 11 281566 281566 + Missense_Mutation SNP A A G TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr11:281566A>G ENST00000534750.1 + 4 2037 c.1832A>G c.(1831-1833)gAg>gGg p.E611G NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GAGGAGGAGGAGGGAGAGGAG 0.662000 4 184 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154300618 154300618 + Missense_Mutation SNP A A T TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr1:154300618A>T ENST00000368489.3 + 2 100 c.100A>T c.(100-102)Atg>Ttg p.M34L ATP8B2_ENST00000368487.3_Start_Codon_SNP_p.M1L NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 0 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCTGGGTGAGATGGCAGTGTG 0.552000 6 134 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165322431 165322431 + Missense_Mutation SNP G G A TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr1:165322431G>A ENST00000342310.3 - 3 527 c.145C>T c.(145-147)Cgg>Tgg p.R49W LMX1A_ENST00000294816.2_Missense_Mutation_p.R49W|LMX1A_ENST00000367893.4_Missense_Mutation_p.R49W NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 49 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) TCGTTGAGCCGCAGCAGAAAC 0.607000 3 70 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8809033 8809033 + Missense_Mutation SNP C C T TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr17:8809033C>T ENST00000447110.1 - 4 350 c.226G>A c.(226-228)Gac>Aac p.D76N PIK3R5_ENST00000581552.1_Missense_Mutation_p.D76N|PIK3R5_ENST00000584803.1_Missense_Mutation_p.D76N NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 76 Heterodimerization (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 GTGAGCAGGTCGTAGGTGCCC 0.602000 8 14 0 0 1 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129666092 129666092 + Silent SNP G G T TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr7:129666092G>T ENST00000358303.4 - 6 766 c.682C>A c.(682-684)Cga>Aga p.R228R RP11-306G20.1_ENST00000480018.1_RNA|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000360708.5_Silent_p.R228R|ZC3HC1_ENST00000481503.1_Silent_p.R228R|ZC3HC1_ENST00000311873.5_Silent_p.R207R NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 228 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) TCATCAGTTCGGTGATCAAGT 0.448000 3 75 1 1 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 4 36 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160289578 160289578 + Silent SNP A A G TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr2:160289578A>G ENST00000392783.2 - 9 2085 c.1590T>C c.(1588-1590)ccT>ccC p.P530P BAZ2B_ENST00000343439.5_Silent_p.P528P|BAZ2B_ENST00000392782.1_Silent_p.P528P|BAZ2B_ENST00000355831.2_Silent_p.P530P NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 530 P -> L (in dbSNP:rs3732287). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GTGAGGAAAAAGGGGTGCTAC 0.443000 3 190 0 0 1 0 0 MBNL3 55796 broad.mit.edu 37 X 131525027 131525027 + Missense_Mutation SNP C C T TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chrX:131525027C>T ENST00000538204.1 - 4 534 c.469G>A c.(469-471)Gaa>Aaa p.E157K MBNL3_ENST00000370849.3_Missense_Mutation_p.E157K|MBNL3_ENST00000370857.3_Missense_Mutation_p.E207K|MBNL3_ENST00000473364.1_5'UTR|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.E111K|MBNL3_ENST00000370839.3_Missense_Mutation_p.E207K|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000370853.3_Missense_Mutation_p.E207K|MBNL3_ENST00000394311.2_Missense_Mutation_p.E111K NM_001170702.1 NP_001164173.1 Q9NUK0 MBNL3_HUMAN muscleblind-like splicing regulator 3 207 Pro-rich. mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing Golgi apparatus|nucleus nucleic acid binding|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2) 16 Acute lymphoblastic leukemia(192;0.000127) TCACTCGCTTCAATCATGGAA 0.468000 4 88 0 0 1 0 0 TP53INP1 0 broad.mit.edu 37 8 95952411 95952411 + Silent SNP T T C TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr8:95952411T>C ENST00000342697.4 - 3 557 c.150A>G c.(148-150)gaA>gaG p.E50E NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Silent_p.E50E|TP53INP1_ENST00000448464.2_Silent_p.E50E NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) TGTCCTCCTCTTCTTCTTCTT 0.463000 3 61 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 129 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 3 125 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168501 25168501 + RNA SNP G G A rs4770716 by1000genomes TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr13:25168501G>A ENST00000453498.1 + 0 1173 TTTTCTCTTCGGTGAGTAATC 0.388000 3 56 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35603828 35603828 + Missense_Mutation SNP G G A TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr17:35603828G>A ENST00000353139.5 - 19 2855 c.2374C>T c.(2374-2376)Cgc>Tgc p.R792C ACACA_ENST00000394406.2_Missense_Mutation_p.R755C|ACACA_ENST00000360679.3_Missense_Mutation_p.R697C|ACACA_ENST00000335166.5_Missense_Mutation_p.R677C NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 755 Biotinyl-binding. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GAAGGTGAGCGCATCACCGAT 0.458000 4 149 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102484914 102484914 + Silent SNP G G A rs77113510 byFrequency TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr14:102484914G>A ENST00000360184.4 + 41 8468 c.8304G>A c.(8302-8304)ccG>ccA p.P2768P NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2768 AAA 3 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 ATGCAGAGCCGCTCACTGCTG 0.537000 3 57 0 0 1 0 0 EPX 8288 broad.mit.edu 37 17 56274516 56274516 + Missense_Mutation SNP C C T rs116223936 byFrequency TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr17:56274516C>T ENST00000225371.5 + 7 1128 c.1018C>T c.(1018-1020)Cgc>Tgc p.R340C NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 340 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CATCAACCAGCGCTTTCAAGA 0.647000 12 139 0 0 1 0 0 HTRA3 94031 broad.mit.edu 37 4 8307707 8307707 + Silent SNP C C A TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr4:8307707C>A ENST00000307358.2 + 9 1410 c.1206C>A c.(1204-1206)atC>atA p.I402I NM_053044.3 NP_444272.1 P83110 HTRA3_HUMAN HtrA serine peptidase 3 402 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 GAGGCGGCATCCAAGATGGTG 0.642000 5 158 1 1 1 1 0 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G G T TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr6:13711709G>T ENST00000011619.3 - 1 87 c.29C>A c.(28-30)cCg>cAg p.P10Q NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.761000 5 22 3.59834e-05 4.17871e-05 1 1 0 RP11-337C18.8 0 broad.mit.edu 37 1 146651135 146651135 + RNA SNP C C A TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr1:146651135C>A ENST00000607149.1 + 0 350 CTATCTACAACGAGAAGCTAC 0.393000 3 52 0.004672 0.005256 1 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 125 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61569116 61569116 + Splice_Site SNP G G A rs150189388 TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr18:61569116G>A ENST00000457692.1 + 7 1011 c.678_splice c.e7+1 p.S226_splice SERPINB2_ENST00000299502.4_Splice_Site_p.S226_splice|SERPINB2_ENST00000482254.1_3'UTR NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 226 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) GTGTAAACTCGGTATGAGACA 0.373000 6 95 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132171140 132171140 + Nonsense_Mutation SNP C C A TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr6:132171140C>A ENST00000360971.2 + 3 344 c.324C>A c.(322-324)tgC>tgA p.C108* NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 108 SMB 1. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TTAAAAGTTGCAAAGGTCGCT 0.378000 10 89 1.49906e-05 1.79887e-05 1 1 0 MAPRE1 22919 broad.mit.edu 37 20 31427653 31427653 + Missense_Mutation SNP G G T TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr20:31427653G>T ENST00000375571.5 + 5 727 c.588G>T c.(586-588)ttG>ttT p.L196F NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 196 EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 CAGCTGAGTTGATGCAGCAGG 0.587000 4 183 2.0095e-06 2.49455e-06 1 1 0 MUC4 4585 broad.mit.edu 37 3 195509212 195509212 + Missense_Mutation SNP G G A rs71291868 TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr3:195509212G>A ENST00000463781.3 - 2 9698 c.9239C>T c.(9238-9240)tCa>tTa p.S3080L MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S3080L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 821 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTGGATGCTGAGGAAGTGTC 0.597000 3 4 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344535 53344535 + Missense_Mutation SNP A A G TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr19:53344535A>G ENST00000595646.1 - 4 1132 c.1012T>C c.(1012-1014)Tat>Cat p.Y338H ZNF468_ENST00000396409.4_Missense_Mutation_p.Y285H|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.Y285H Q5VIY5 ZN468_HUMAN zinc finger protein 468 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TATGAATTATATGCGAAAGCC 0.368000 3 161 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 33 51 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111705 57111705 + Silent SNP G G A rs2926746 TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr12:57111705G>A ENST00000454682.1 - 3 3890 c.3609C>T c.(3607-3609)ccC>ccT p.P1203P NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 5 110 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146651215 146651215 + RNA SNP G G C TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr1:146651215G>C ENST00000607149.1 + 0 350 AAAGCAGTAGGCAAACACCAC 0.453000 3 26 0 0 1 0 0 PPM1J 333926 broad.mit.edu 37 1 113257891 113257892 + Frame_Shift_Del DEL GT GT - TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr1:113257891_113257892delGT ENST00000309276.6 - 1 207_208 c.32_33delAC c.(31-33)cfs p.H11fs PPM1J_ENST00000464951.1_5'UTR NM_005167.5 NP_005158.5 Q5JR12 PPM1J_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1J 11 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 14 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCTCACCAGGTGCGCCACGGC 0.802 3 4 --- --- --- --- AC093901.1 0 broad.mit.edu 37 2 118943144 118943144 + RNA DEL G G - rs70949917 TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr2:118943144delG ENST00000414886.1 - 0 156 cggcgggggaggggggaggag 0.577 5 4 --- --- --- --- HTT 3064 broad.mit.edu 37 4 3076604 3076609 + In_Frame_Del DEL CAGCAG CAGCAG - rs71180116 TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr4:3076604_3076609delCAGCAG ENST00000355072.5 + 1 197_202 c.52_57delCAGCAG c.(52-57)del p.QQ36del NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 36 Poly-Gln. establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CAAGTCCTTCcagcagcagcagcagc 0.704 3 6 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45755222 45755223 + RNA INS - - CA TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr15:45755222_45755223insCA ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA accaccaccaccaccaccacca 0.594 3 4 --- --- --- --- AC005562.1 0 broad.mit.edu 37 17 28960996 28960997 + RNA INS - - TC TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr17:28960996_28960997insTC ENST00000417404.1 + 0 1269 LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA tttttctttttttttttttttt 0.302 3 5 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr18:77623691_77623692insGGC ENST00000316249.3 + 1 24_25 c.24_25insGGC c.(22-27)ccgcgg>ccGGCgcgg p.8_9PR>PAR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 8 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 2 4 --- --- --- --- AR 367 broad.mit.edu 37 X 66765243 66765245 + In_Frame_Del DEL GCA GCA - TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chrX:66765243_66765245delGCA ENST00000374690.3 + 1 779_781 c.255_257delGCA c.(253-258)agg>ag p.RQ85del AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.RQ85del|AR_ENST00000396044.3_In_Frame_Del_p.RQ85del NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 83 Gln-rich.|Modulating.|Poly-Gln. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) ctagccccaggcagcagcagcag 0.631 Androgen Insensitivity Syndrome 2 4 --- --- --- ---