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 PEX5 5830 broad.mit.edu 37 12 7343014 7343014 + Missense_Mutation SNP C C G TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr12:7343014C>G ENST00000266563.5 + 2 224 c.41C>G c.(40-42)gCc>gGc p.A14G PEX5_ENST00000545220.1_Intron|PEX5_ENST00000420616.2_Missense_Mutation_p.A14G|PEX5_ENST00000455147.2_Missense_Mutation_p.A14G|PEX5_ENST00000266564.3_Missense_Mutation_p.A14G|PEX5_ENST00000412720.2_Missense_Mutation_p.A35G|PEX5_ENST00000434354.2_Missense_Mutation_p.A14G NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 14 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 TGCGGGGGTGCCAACCCGCTC 0.667000 5 141 0 0 1 0 0 DDX53 168400 broad.mit.edu 37 X 23019751 23019751 + Missense_Mutation SNP T T C rs145541868 TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chrX:23019751T>C ENST00000327968.5 + 1 1665 c.1577T>C c.(1576-1578)aTa>aCa p.I526T RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 526 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 ACAACTGATATAGTATCCCGA 0.373000 3 50 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 108 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46308064 46308064 + Missense_Mutation SNP C C T TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr19:46308064C>T ENST00000221538.3 - 3 1241 c.1099G>A c.(1099-1101)Gag>Aag p.E367K RSPH6A_ENST00000600188.1_Missense_Mutation_p.E103K|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E367K NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 367 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tctgcctcctcctcgccctcc 0.652000 12 56 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 3 40 0 0 1 0 0 NBPF8 728841 broad.mit.edu 37 1 144220807 144220807 + Missense_Mutation SNP A A C TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr1:144220807A>C ENST00000369373.5 + 2 74 c.74A>C c.(73-75)gAt>gCt p.D25A neuroblastoma breakpoint family, member 8 GAGCTGCTGGATGAGAAAGAG 0.483000 4 48 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 5 101 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135389735 135389735 + Silent SNP G G A TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr5:135389735G>A ENST00000442011.2 + 9 1391 c.1230G>A c.(1228-1230)ttG>ttA p.L410L TGFBI_ENST00000305126.8_Silent_p.L410L NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 410 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTGAGCGGTTGACCCTCCTGG 0.532000 15 90 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 5 100 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96180969 96180969 + Missense_Mutation SNP A A C TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr12:96180969A>C ENST00000343702.4 - 2 781 c.333T>G c.(331-333)gaT>gaG p.D111E NTN4_ENST00000553059.1_Missense_Mutation_p.D111E|NTN4_ENST00000344911.4_Missense_Mutation_p.D74E|NTN4_ENST00000538383.1_Missense_Mutation_p.D74E NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 111 Laminin N-terminal. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CTCTGTGCACATCCTCCGCAG 0.542000 4 70 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 4494931 4494931 + Missense_Mutation SNP G G C TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr8:4494931G>C ENST00000520002.1 - 2 790 c.235C>G c.(235-237)Ctt>Gtt p.L79V CSMD1_ENST00000602723.1_Missense_Mutation_p.L79V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L79V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L79V|CSMD1_ENST00000539096.1_Missense_Mutation_p.L79V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L79V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L79V Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 79 CUB 1. 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) TCTTCTTCAAGAGCAAAGGTA 0.423000 4 84 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 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 10 17 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226034840 226034842 + In_Frame_Del DEL CTG CTG - TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr1:226034840_226034842delCTG ENST00000366835.3 - 24 2593_2595 c.2323_2325delCAG c.(2323-2325)del p.Q775del NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 775 integral to membrane|lysosomal membrane nucleotide binding p.Q775delQ(1) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CACCATAGGTCTGCTGCTGCTGC 0.626 7 225 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 8 86 --- --- --- --- ITGAL 0 broad.mit.edu 37 16 30531249 30531251 + In_Frame_Del DEL GCT GCT - TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr16:30531249_30531251delGCT ENST00000356798.6 + 30 3480_3482 c.3300_3302delGCT c.(3298-3303)ggg>gg p.GL1100del ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1100 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCATCGGGGGGCTGCTGCTGCTG 0.601 7 227 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175656 51175658 + In_Frame_Del DEL GCT GCT - rs13336129 byFrequency TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr16:51175656_51175658delGCT ENST00000440970.1 - 2 615_617 c.184_186delAGC c.(184-186)del p.S62del SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 159 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S159G(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) cgccgccgccgctgctgctgctg 0.631 8 99 --- --- --- --- AQP4-AS1 0 broad.mit.edu 37 18 24445877 24445878 + RNA INS - - T rs68070007 TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr18:24445877_24445878insT ENST00000568797.1 + 0 53 AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA NR_026908.1 CATTTACTTAATTTTTTTTTTT 0.302 2 4 --- --- --- ---