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 PHF21A 51317 broad.mit.edu 37 11 45958119 45958119 + Splice_Site SNP A A G TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr11:45958119A>G ENST00000257821.4 - 16 2233 c.1608_splice c.e16-1 p.M537_splice PHF21A_ENST00000418153.2_Splice_Site_p.M536_splice|PHF21A_ENST00000323180.6_Splice_Site_p.M490_splice NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 536 Required for transcriptional repression. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 CTTCTTCAGCATCTGAAAAGA 0.388000 27 44 0 0 0.116897 0 0 NKX2-1 7080 broad.mit.edu 37 14 36987112 36987112 + Missense_Mutation SNP T T C TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr14:36987112T>C ENST00000518149.1 - 3 1092 c.487A>G c.(487-489)Aag>Gag p.K163E NKX2-1_ENST00000498187.2_Missense_Mutation_p.K163E|NKX2-1_ENST00000354822.5_Missense_Mutation_p.K193E|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.K163E P43699 NKX21_HUMAN NK2 homeobox 1 163 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) ACCCGGCGCTTCCTGCGCGGC 0.701000 A NSCLC 9 7 0 0 0.058154 0 0 ZFHX3 463 broad.mit.edu 37 16 72821228 72821228 + Silent SNP T T C TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr16:72821228T>C ENST00000268489.5 - 10 11619 c.10947A>G c.(10945-10947)tcA>tcG p.S3649S ZFHX3_ENST00000397992.5_Silent_p.S2735S NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3649 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GCTGAACCCCTGAGGTGCTGC 0.602000 43 60 0 0 0.098360 0 0 BMPER 168667 broad.mit.edu 37 7 33976989 33976989 + Missense_Mutation SNP A A T TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr7:33976989A>T ENST00000297161.2 + 4 682 c.308A>T c.(307-309)gAa>gTa p.E103V BMPER_ENST00000426693.1_Missense_Mutation_p.E103V NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 103 VWFC 1. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GCCTGTTGTGAACAGTGCAAA 0.488000 31 33 0 0 0.134883 0 0 KDSR 2531 broad.mit.edu 37 18 61018297 61018297 + Missense_Mutation SNP T T A TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr18:61018297T>A ENST00000406396.3 - 6 824 c.433A>T c.(433-435)Aat>Tat p.N145Y KDSR_ENST00000326575.5_Intron NM_002035.2 NP_002026.1 Q06136 KDSR_HUMAN 3-ketodihydrosphingosine reductase 145 3-keto-sphinganine metabolic process endoplasmic reticulum membrane|extracellular space|integral to membrane 3-dehydrosphinganine reductase activity|binding endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 9 CCCAGGTAATTGATGCTCATT 0.542000 42 49 0 0 0.139131 0 0 ZNF644 84146 broad.mit.edu 37 1 91404819 91404819 + Missense_Mutation SNP T T C TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr1:91404819T>C ENST00000370440.1 - 3 2309 c.2092A>G c.(2092-2094)Atg>Gtg p.M698V ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.M698V|ZNF644_ENST00000361321.5_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 698 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TGATTGCACATGTTTACACCT 0.368000 59 58 0 0 0.139131 0 0 ACVR2A 92 broad.mit.edu 37 2 148684674 148684674 + Missense_Mutation SNP T T C TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr2:148684674T>C ENST00000241416.7 + 11 2009 c.1373T>C c.(1372-1374)aTt>aCt p.I458T ACVR2A_ENST00000535787.1_Missense_Mutation_p.I350T|ACVR2A_ENST00000404590.1_Missense_Mutation_p.I458T|ACVR2A_ENST00000495775.1_3'UTR NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 458 Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity p.I458T(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TGTGAAACCATTGAAGAATGT 0.378000 6 56 0 0 0.029380 0 0 SLC26A9 115019 broad.mit.edu 37 1 205892514 205892514 + Silent SNP G G A TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr1:205892514G>A ENST00000367135.3 - 15 1721 c.1608C>T c.(1606-1608)tcC>tcT p.S536S SLC26A9_ENST00000367134.2_Silent_p.S536S|SLC26A9_ENST00000340781.4_Silent_p.S536S NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 536 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) AGTAGAGAGGGGAGCAGTACG 0.507000 8 91 0 0 0.047766 0 0 ZNF101 94039 broad.mit.edu 37 19 19790171 19790171 + Missense_Mutation SNP G G T TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr19:19790171G>T ENST00000592502.1 + 4 483 c.373G>T c.(373-375)Gct>Tct p.A125S ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.A5S Q8IZC7 ZN101_HUMAN zinc finger protein 101 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1) 17 GAGAGCTCATGCTGGACACAA 0.507000 26 35 7.92952e-12 8.72247e-12 0.091800 1 0 ARMC8 25852 broad.mit.edu 37 3 137991824 137991824 + Missense_Mutation SNP G G A TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr3:137991824G>A ENST00000469044.1 + 17 1766 c.1495G>A c.(1495-1497)Gct>Act p.A499T ARMC8_ENST00000485396.1_Missense_Mutation_p.A426T|ARMC8_ENST00000481646.1_Missense_Mutation_p.A485T|NME9_ENST00000383180.2_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000538260.1_Missense_Mutation_p.A468T|ARMC8_ENST00000461822.1_Missense_Mutation_p.A432T|ARMC8_ENST00000491704.1_Missense_Mutation_p.A457T|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000393058.3_Missense_Mutation_p.A489T|NME9_ENST00000484930.1_Intron NM_001267041.1|NM_001267042.1 NP_001253970.1|NP_001253971.1 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 499 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 GGCATTTCAGGCTGAACAAAA 0.289000 7 14 0 0 0.029380 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 22 0 0 0.115264 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 8 85 0 0 0.058154 0 0 TSC22D2 9819 broad.mit.edu 37 3 150127909 150127909 + Missense_Mutation SNP A A G TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr3:150127909A>G ENST00000361875.2 + 1 1788 c.772A>G c.(772-774)Atg>Gtg p.M258V TSC22D2_ENST00000361136.2_Missense_Mutation_p.M258V NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 258 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GTCGGAGAAAATGAGCCAGCC 0.667000 17 27 0 0 0.038395 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 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 37 48 0 0 0.086207 0 0 SMCHD1 23347 broad.mit.edu 37 18 2697862 2697862 + Missense_Mutation SNP A A G TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr18:2697862A>G ENST00000320876.6 + 10 1503 c.1165A>G c.(1165-1167)Att>Gtt p.I389V RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.I389V NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 389 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 GGTACCTAAGATTGTCAACCT 0.328000 5 57 0 0 0.021553 0 0 MYLPF 29895 broad.mit.edu 37 16 30388975 30388975 + Splice_Site SNP C C T TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr16:30388975C>T ENST00000322861.7 + 6 438 c.356_splice c.e6-1 p.F119_splice NM_013292.3 NP_037424.2 Q96A32 MLRS_HUMAN myosin light chain, phosphorylatable, fast skeletal muscle 119 EF-hand 2. skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle large_intestine(2)|lung(4) 6 Colorectal(24;0.193) CTCTCTCCAGCCTGGAGGAGC 0.662000 3 6 0 0 0.115264 0 0 GALNT7 51809 broad.mit.edu 37 4 174238797 174238797 + Missense_Mutation SNP G G A TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr4:174238797G>A ENST00000265000.4 + 10 1704 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 541 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.E541K(1) central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) CAGAGGCTTCGAAACTGCTTA 0.393000 6 87 0 0 0.021553 0 0 OR5F1 338674 broad.mit.edu 37 11 55761604 55761604 + Silent SNP C C T TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr11:55761604C>T ENST00000278409.1 - 1 497 c.498G>A c.(496-498)ttG>ttA p.L166L NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) CACAGAATGACAAGCTGCTGA 0.473000 7 55 0 0 0.029380 0 0 ZFP36 7538 broad.mit.edu 37 19 39898789 39898789 + Missense_Mutation SNP C C G TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr19:39898789C>G ENST00000597629.1 + 2 523 c.449C>G c.(448-450)aCg>aGg p.T150R ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000248673.3_Missense_Mutation_p.T144R P26651 TTP_HUMAN ZFP36 ring finger protein 144 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AAATACAAGACGGAACTCTGT 0.647000 42 70 0 0 0.092188 0 0 C10orf90 118611 broad.mit.edu 37 10 128193581 128193581 + Missense_Mutation SNP G G A TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr10:128193581G>A ENST00000284694.7 - 3 308 c.188C>T c.(187-189)tCa>tTa p.S63L C10orf90_ENST00000544758.1_Missense_Mutation_p.S160L|C10orf90_ENST00000392694.1_Missense_Mutation_p.S16L|C10orf90_ENST00000454341.1_Missense_Mutation_p.S63L|C10orf90_ENST00000356858.3_Missense_Mutation_p.S16L|C10orf90_ENST00000368674.1_5'UTR NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 63 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) GTTTTCTCTTGACTTATTCTC 0.463000 29 43 0 0 0.116897 0 0 SEZ6L 23544 broad.mit.edu 37 22 26747060 26747060 + Missense_Mutation SNP G G A TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr22:26747060G>A ENST00000529632.2 + 12 2646 c.2450G>A c.(2449-2451)cGc>cAc p.R817H SEZ6L_ENST00000403121.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R14H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R817H|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R817H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R817H NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 817 Sushi 4. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CACTCGACCCGCTTAATTTCG 0.547000 28 46 0 0 0.134883 0 0 SLC34A2 10568 broad.mit.edu 37 4 25669575 25669576 + Frame_Shift_Ins INS - - G TCGA-ET-A3DW-01A-11D-A19J-08 TCGA-ET-A3DW-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18ea30ba-e4f0-476f-bd25-737837e8341f 17f4ee11-2769-4265-ba87-f0e8b10b9a41 g.chr4:25669575_25669576insG ENST00000382051.3 + 6 647_648 c.597_598insG c.(595-600)gtcgctfs p.A200fs SLC34A2_ENST00000504570.1_Frame_Shift_Ins_p.A199fs|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000503434.1_Frame_Shift_Ins_p.A199fs NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 200 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) ACACTATTGTTGCGCTCATGCA 0.495 T ROS1 NSCLC 7 40 --- --- --- ---