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 SELENBP1 8991 broad.mit.edu 37 1 151337077 151337077 + Missense_Mutation SNP G G A TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr1:151337077G>A ENST00000426705.2 - 12 1631 c.1487C>T c.(1486-1488)gCc>gTc p.A496V SELENBP1_ENST00000447402.3_Missense_Mutation_p.A392V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A390V|SELENBP1_ENST00000368868.5_Missense_Mutation_p.A454V NM_001258289.1 NP_001245218.1 Q13228 SBP1_HUMAN selenium binding protein 1 454 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATGGGCAAGGGCTGGGCCAAG 0.567 4 80 --- --- --- --- ZBTB7B 51043 broad.mit.edu 37 1 154988869 154988869 + Missense_Mutation SNP A A G TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr1:154988869A>G ENST00000368426.3 + 4 1465 c.1328A>G c.(1327-1329)gAc>gGc p.D443G ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D443G|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D477G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D443G NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 443 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCCAAGGAGGACCACCTGCAG 0.642 6 27 --- --- --- --- HOXD8 3234 broad.mit.edu 37 2 176996330 176996330 + Missense_Mutation SNP T T G TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr2:176996330T>G ENST00000313173.4 + 2 1490 c.863T>G c.(862-864)cTg>cGg p.L288R HOXD8_ENST00000548663.1_Missense_Mutation_p.L184R|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000429017.1_Missense_Mutation_p.L104R|HOXD8_ENST00000544999.1_Missense_Mutation_p.L287R|HOXD8_ENST00000450510.2_Missense_Mutation_p.L287R NM_001199746.1|NM_019558.3 NP_001186675.1|NP_062458.1 P13378 HXD8_HUMAN homeobox D8 288 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) GCCGAAGGCCTGACAAATTAA 0.433 7 26 --- --- --- --- ITGA9 3680 broad.mit.edu 37 3 37818970 37818970 + Missense_Mutation SNP A A G TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr3:37818970A>G ENST00000264741.5 + 24 2885 c.2629A>G c.(2629-2631)Ata>Gta p.I877V AC093415.2_ENST00000438136.1_RNA NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 877 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CTTCCACACAATATTTGCTTT 0.428 10 25 --- --- --- --- CP 1356 broad.mit.edu 37 3 148903046 148903046 + Silent SNP C C T TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr3:148903046C>T ENST00000264613.6 - 12 2527 c.2265G>A c.(2263-2265)ctG>ctA p.L755L CP_ENST00000462336.1_5'UTR NM_000096.3 NP_000087 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 755 F5/8 type A 3.|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GTAAATGATGCAGCTCCTTTT 0.428 4 152 --- --- --- --- DHX29 54505 broad.mit.edu 37 5 54558526 54558526 + Missense_Mutation SNP C C T TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr5:54558526C>T ENST00000251636.5 - 24 3908 c.3760G>A c.(3760-3762)Gca>Aca p.A1254T RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 1254 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TGTACTTGTGCTTTGCCTTGG 0.433 8 99 --- --- --- --- PCDHA5 56143 broad.mit.edu 37 5 140203041 140203041 + Missense_Mutation SNP G G A TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr5:140203041G>A ENST00000529859.1 + 1 1681 c.1681G>A c.(1681-1683)Gcg>Acg p.A561T PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A561T|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A561T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018908.2 NP_061731.1 p.A561S(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACGACAACGCGCCGGCGCT 0.716 4 79 --- --- --- --- HIST1H2BM 8342 broad.mit.edu 37 6 27783060 27783060 + Missense_Mutation SNP G G C TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr6:27783060G>C ENST00000359465.4 + 1 239 c.239G>C c.(238-240)cGc>cCc p.R80P NM_003521.2 NP_003512.1 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 80 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 12 GAAGCGTCACGCCTGGCGCAT 0.592 16 65 --- --- --- --- TRIM15 89870 broad.mit.edu 37 6 30138773 30138773 + Missense_Mutation SNP G G A TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr6:30138773G>A ENST00000376694.4 + 6 1337 c.868G>A c.(868-870)Gaa>Aaa p.E290K TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 290 B30.2/SPRY. mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GCATCATCTGGAAATAGATTC 0.428 16 58 --- --- --- --- NPC1L1 29881 broad.mit.edu 37 7 44575523 44575523 + Silent SNP C C A TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr7:44575523C>A ENST00000289547.4 - 5 1954 c.1899G>T c.(1897-1899)ctG>ctT p.L633L NPC1L1_ENST00000423141.1_Silent_p.L633L|NPC1L1_ENST00000546276.1_Silent_p.L633L|NPC1L1_ENST00000381160.3_Silent_p.L633L NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 633 SSD. cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CAAAGATGGGCAGGTCTTCAG 0.592 3 28 --- --- --- --- TRIM8 81603 broad.mit.edu 37 10 104414440 104414440 + Missense_Mutation SNP G G A TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr10:104414440G>A ENST00000302424.7 + 2 723 c.601G>A c.(601-603)Gag>Aag p.E201K TRIM8_ENST00000487927.1_3'UTR NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GGACCGGCTGGAGGAGCGAGA 0.592 17 114 --- --- --- --- LUZP2 338645 broad.mit.edu 37 11 25071608 25071608 + Missense_Mutation SNP A A C TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr11:25071608A>C ENST00000533227.1 + 10 819 c.532A>C c.(532-534)Aat>Cat p.N178H LUZP2_ENST00000336930.6_Missense_Mutation_p.N264H NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 264 Leucine-zipper. extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 TTCTGGAAACAATGAGAGCTC 0.353 4 45 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92085432 92085432 + Missense_Mutation SNP G G A TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr11:92085432G>A ENST00000298047.6 + 1 171 c.154G>A c.(154-156)Gtg>Atg p.V52M FAT3_ENST00000409404.2_Missense_Mutation_p.V52M|FAT3_ENST00000541502.1_Missense_Mutation_p.V52M Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 52 Cadherin 1. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TAATGCTACCGTGTATGAGAA 0.488 TCGA Ovarian(4;0.039) 3 30 --- --- --- --- MAP2K7 5609 broad.mit.edu 37 19 7970733 7970733 + Silent SNP A A G TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr19:7970733A>G ENST00000397983.3 + 2 225 c.165A>G c.(163-165)caA>caG p.Q55Q MAP2K7_ENST00000397979.3_Intron|MAP2K7_ENST00000545011.1_Intron|MAP2K7_ENST00000397981.3_Intron O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 41 activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) CCCCGTCCCAACGAGCAGGTA 0.532 27 107 --- --- --- --- CLPTM1 1209 broad.mit.edu 37 19 45494556 45494556 + Missense_Mutation SNP A A G TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr19:45494556A>G ENST00000541297.2 + 12 1903 c.1438A>G c.(1438-1440)Agt>Ggt p.S480G CLPTM1_ENST00000546079.1_Missense_Mutation_p.S392G|CLPTM1_ENST00000337392.5_Missense_Mutation_p.S494G O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 494 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) TGCCGTCTACAGTCTTCTGTA 0.637 25 118 --- --- --- --- SIGLEC1 6614 broad.mit.edu 37 20 3673297 3673297 + Silent SNP G G A TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr20:3673297G>A ENST00000344754.4 - 15 3900 c.3901C>T c.(3901-3903)Ctg>Ttg p.L1301L SIGLEC1_ENST00000202578.4_Silent_p.L1301L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1301 Ig-like C2-type 13. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CCCTCCTGCAGCCAACGACCG 0.657 3 12 --- --- --- --- SEL1L2 80343 broad.mit.edu 37 20 13894588 13894588 + Missense_Mutation SNP G G A TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr20:13894588G>A ENST00000284951.5 - 5 463 c.389C>T c.(388-390)gCc>gTc p.A130V SEL1L2_ENST00000378072.5_Missense_Mutation_p.A130V|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 130 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 AAGTAGGTAGGCTCTGTTTCA 0.353 3 31 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150840968 150840968 + Missense_Mutation SNP A A G TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chrX:150840968A>G ENST00000370357.4 + 14 1996 c.1751A>G c.(1750-1752)cAg>cGg p.Q584R NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 584 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GAGAGGGTGCAGATATGCCTG 0.532 12 17 --- --- --- --- GATA6 2627 broad.mit.edu 37 18 19751408 19751408 + Frame_Shift_Del DEL C C - TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba8e7248-e06a-4817-8199-d0a3a52e0a5f d0e157eb-2d83-4028-9d45-cea626e62e21 g.chr18:19751408delC ENST00000269216.3 + 2 580 c.303delC c.(301-303)ggcfs p.G101fs GATA6_ENST00000581694.1_Frame_Shift_Del_p.G101fs NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 101 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) GGGTCGCGGGCCCCGGGGGCA 0.726 2 4 --- --- --- ---