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 ZNF573 126231 broad.mit.edu 37 19 38230588 38230588 + Missense_Mutation SNP T T A TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr19:38230588T>A uc002ohe.3 - 4 872 c.803A>T c.(802-804)cAt>cTt p.H268L ZNF573_uc010efs.2_Missense_Mutation_p.H181L|ZNF573_uc002ohd.3_Missense_Mutation_p.H266L|ZNF573_uc002ohf.3_Missense_Mutation_p.H210L|ZNF573_uc002ohg.3_Missense_Mutation_p.H180L|ZNF573_uc021utv.1_Missense_Mutation_p.H180L NM_001172690 NP_001166161 Q86YE8 ZN573_HUMAN Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA. 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TTCGCCAGTATGAACTCTCTG 0.433000 37 68 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966816 41966816 + Silent SNP C C T TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr12:41966816C>T uc010skn.2 + 9 2243 c.2235C>T c.(2233-2235)tgC>tgT p.C745C PDZRN4_uc001rmq.4_Silent_p.C487C|PDZRN4_uc009zjz.3_Silent_p.C485C|PDZRN4_uc001rmr.3_Silent_p.C372C NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 745 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CTGAGAGCTGCAGAAGTACTC 0.483000 39 60 0 0 1 0 0 BEND2 139105 broad.mit.edu 37 X 18234789 18234789 + Missense_Mutation SNP T T A TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chrX:18234789T>A uc004cyj.4 - 1 244 c.90A>T c.(88-90)gaA>gaT p.E30D BEND2_uc010nfb.2_Missense_Mutation_p.E30D NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA. 30 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 TTTCAGAAACTTCCACCATCT 0.358000 6 51 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110951452 110951452 + Missense_Mutation SNP C C T TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chrX:110951452C>T uc011msy.2 + 3 682 c.581C>T c.(580-582)cCt>cTt p.P194L ALG13_uc011msw.2_Missense_Mutation_p.P116L|ALG13_uc011msx.2_Missense_Mutation_p.P90L|ALG13_uc011msz.2_Missense_Mutation_p.P116L|ALG13_uc011mta.2_Missense_Mutation_p.P90L|ALG13_uc011mtb.2_Missense_Mutation_p.P90L NM_001099922 NP_001093392 Q9NP73 ALG13_HUMAN Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA. 194 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding endometrium(2)|lung(10)|skin(1) 13 GCTTTTTTTCCTCTCCCTCTT 0.473000 6 70 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246284 56246284 + Missense_Mutation SNP A A G TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr18:56246284A>G uc002lhj.4 - 3 1938 c.1724T>C c.(1723-1725)cTa>cCa p.L575P NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 575 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ACTCTGGGTTAGTGGGGGCTC 0.498000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 63 0 0 1 0 0 CLK1 1195 broad.mit.edu 37 2 201718131 201718131 + Silent SNP A A G TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr2:201718131A>G uc010zhi.1 - 12 1814 c.1479T>C c.(1477-1479)ttT>ttC p.F493F CLK1_uc002uwe.2_Silent_p.F451F|CLK1_uc002uwf.2_Silent_p.F225F|CLK1_uc002uwg.2_Silent_p.F300F NM_001162407 NP_004062 P49759 CLK1_HUMAN Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 2, mRNA. 451 cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 GAATGAGGTCAAAGAGACGCT 0.363000 14 28 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98806446 98806446 + Silent SNP G G A TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr10:98806446G>A uc001kmw.2 - 17 2070 c.1818C>T c.(1816-1818)agC>agT p.S606S SLIT1_uc009xvh.1_Silent_p.S616S NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 606 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space Roundabout binding|calcium ion binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGAACATGCCGCTCCGGATGG 0.617000 14 23 0 0 1 0 0 ITPA 3704 broad.mit.edu 37 20 3204049 3204049 + Missense_Mutation SNP T T G TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr20:3204049T>G uc002wid.3 + 7 668 c.526T>G c.(526-528)Tcc>Gcc p.S176A ITPA_uc002wie.3_Missense_Mutation_p.S159A|ITPA_uc002wif.3_Non-coding_Transcript NM_033453 NP_258412 Q9BY32 ITPA_HUMAN Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 1, mRNA. 176 nucleotide metabolic process cytoplasm metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1) 6 GAACGCTGTCTCCCATCGCTT 0.617000 7 28 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77412844 77412844 + Missense_Mutation SNP T T C TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr11:77412844T>C uc001oyn.3 - 5 1550 c.1430A>G c.(1429-1431)gAc>gGc p.D477G RSF1_uc001oym.3_Missense_Mutation_p.D225G NM_016578 NP_057662 Q96T23 RSF1_HUMAN Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA. 477 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) GATATTTCTGTCCTTAGAGGG 0.403000 23 51 0 0 1 0 0 GFI1B 8328 broad.mit.edu 37 9 135865148 135865148 + Missense_Mutation SNP G G A TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr9:135865148G>A uc004ccg.3 + 5 1023 c.668G>A c.(667-669)cGc>cAc p.R223H GFI1B_uc010mzy.3_Missense_Mutation_p.R177H NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA. 223 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding p.R223F(2) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) TTCGAGTGCCGCATGTGCGGC 0.677000 3 29 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187541588 187541588 + Missense_Mutation SNP C C A TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr2:187541588C>A uc002upq.3 + 28 3253 c.2977C>A c.(2977-2979)Cct>Act p.P993T ITGAV_uc010frs.3_Missense_Mutation_p.P957T|ITGAV_uc010zfv.2_Missense_Mutation_p.P947T NM_002210 NP_002201 P06756 ITAV_HUMAN Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA. 993 ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) CATGCCTGTGCCTGTGTGGGT 0.423000 25 62 0 0 1 0 0 SYTL5 94122 broad.mit.edu 37 X 37931394 37931394 + Missense_Mutation SNP T T A TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chrX:37931394T>A uc004ddx.3 + 2 780 c.424T>A c.(424-426)Tcc>Acc p.S142T SYTL5_uc004ddu.3_Missense_Mutation_p.S142T|SYTL5_uc004ddv.3_Missense_Mutation_p.S142T NM_001163334 NP_001156806 Q8TDW5 SYTL5_HUMAN Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA. 142 intracellular protein transport membrane Rab GTPase binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 TGTCCGACAGTCCATTTTAAG 0.373000 8 71 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754598 49754598 + Silent SNP G G A TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr6:49754598G>A uc003ozu.3 - 0 456 c.303C>T c.(301-303)ggC>ggT p.G101G NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 101 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CCACTTCTGCGCCTACACAGT 0.522000 14 100 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453135 140453136 + Missense_Mutation DNP CA CA TT rs121913377 TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr7:140453135_140453136CA>TT uc003vwc.4 - 14 1860_1861 c.1799_1800TG>AA c.(1798-1800)gtg>gAA p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.V600V(2)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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) ATCGAGATTTCACTGTAGCTAG 0.371000 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 13 39 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34549844 34549844 + Splice_Site SNP C C A TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr15:34549844C>A uc001zhw.3 - 5 854 c.690_splice c.e5+1 p.C230_splice SLC12A6_uc001zhv.3_Splice_Site_p.C179_splice|SLC12A6_uc001zhz.3_Splice_Site|SLC12A6_uc001zhx.3_Splice_Site_p.C215_splice|SLC12A6_uc001zhy.3_Splice_Site|SLC12A6_uc001zia.3_Splice_Site_p.C171_splice|SLC12A6_uc001zib.3_Splice_Site_p.C221_splice|SLC12A6_uc001zic.3_Splice_Site_p.C230_splice|SLC12A6_uc010bau.3_Splice_Site_p.C230_splice|SLC12A6_uc001zid.3_Splice_Site_p.C171_splice|SLC12A6_uc001zhu.3_Intron NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA. 230 Poly-Cys. angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AGTACTTACACAGCAGCAGCA 0.438000 7 17 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54545172 54545172 + Missense_Mutation SNP G G A TCGA-E8-A437-01A-12D-A23U-08 TCGA-E8-A437-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 790acd37-23ee-49d1-bf24-05d6ac48d678 5dfb3d6d-6d77-40bd-bd60-4d86741432ac g.chr19:54545172G>A uc002qcw.4 - 6 727 c.551C>T c.(550-552)gCc>gTc p.A184V VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Missense_Mutation_p.A96V|VSTM1_uc002qcx.4_Missense_Mutation_p.A153V|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Missense_Mutation_p.A64V NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA. 184 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) TCCCTTACCGGCAGCCTCCTG 0.478000 3 45 0 0 1 0 0