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 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 3 22 0 0 0.004672 0 0 KRT16P2 0 broad.mit.edu 37 17 16734855 16734855 + RNA SNP C C T rs688852 by1000genomes TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr17:16734855C>T ENST00000579062.1 - 0 460 p.R183Q(1) CACAGTCTGCCGCAGGGCCAG 0.632000 6 42 0 0 0.006214 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 33 0.000602214 0.000933432 0.000602 1 0 CACNB1 782 broad.mit.edu 37 17 37333738 37333738 + Silent SNP C C T TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr17:37333738C>T ENST00000394303.3 - 13 1404 c.1197G>A c.(1195-1197)gaG>gaA p.E399E RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Silent_p.E399E|CACNB1_ENST00000344140.5_Silent_p.E444E NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 399 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) CCGCCAGATGCTCGCAGGCAT 0.607000 16 27 0 0 0.004990 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 4 151 0 0 0.001168 0 0 OPLAH 26873 broad.mit.edu 37 8 145113595 145113595 + Splice_Site SNP C C T TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr8:145113595C>T ENST00000426825.1 - 6 669 c.e6-1 OPLAH_ENST00000534424.1_Splice_Site NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CTGGGCCCACCTATGACAAAA 0.657000 4 21 0 0 0.009096 0 0 RC3H2 54542 broad.mit.edu 37 9 125639844 125639844 + Missense_Mutation SNP A A G TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr9:125639844A>G ENST00000373670.1 - 8 1831 c.1231T>C c.(1231-1233)Tac>Cac p.Y411H RC3H2_ENST00000357244.2_Missense_Mutation_p.Y411H|RC3H2_ENST00000335387.5_Missense_Mutation_p.Y411H|RC3H2_ENST00000423239.2_Missense_Mutation_p.Y411H|RC3H2_ENST00000373665.2_Missense_Mutation_p.Y411H Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 411 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CTAGTCTTGTATTTGCTGTTT 0.418000 7 176 0 0 0.006214 0 0 ZFHX3 463 broad.mit.edu 37 16 72831798 72831798 + Missense_Mutation SNP G G C TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr16:72831798G>C ENST00000268489.5 - 9 5455 c.4783C>G c.(4783-4785)Cct>Gct p.P1595A ZFHX3_ENST00000397992.5_Missense_Mutation_p.P681A NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1595 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) CACTTAAAAGGTTTGTTGTCT 0.488000 21 48 0 0 0.010504 0 0 PKD1L1 168507 broad.mit.edu 37 7 47944122 47944122 + Missense_Mutation SNP C C T TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr7:47944122C>T ENST00000289672.2 - 12 1834 c.1784G>A c.(1783-1785)cGg>cAg p.R595Q NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 595 PKD 2. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGACGTGAGCCGATTGGCCAC 0.537000 15 39 0 0 0.006122 0 0 C10orf99 387695 broad.mit.edu 37 10 85944480 85944480 + Silent SNP G G A TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr10:85944480G>A ENST00000372126.3 + 3 318 c.204G>A c.(202-204)gaG>gaA p.E68E C10orf99_ENST00000472542.1_Intron NM_207373.2 NP_997256.1 Q6UWK7 CJ099_HUMAN chromosome 10 open reading frame 99 68 extracellular region endometrium(1)|lung(1)|pancreas(1)|prostate(1) 4 TTGAGCCAGAGCCCCGCCTTT 0.577000 5 60 0 0 0.001168 0 0 HCFC1 3054 broad.mit.edu 37 X 153228845 153228845 + Silent SNP G G A TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chrX:153228845G>A ENST00000310441.7 - 4 1509 c.543C>T c.(541-543)ggC>ggT p.G181G HCFC1_ENST00000354233.3_Silent_p.G181G|HCFC1_ENST00000369984.4_Silent_p.G181G NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 181 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCACTCCAGAGCCTGGCCGTA 0.527000 24 44 0 0 0.002780 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 66 0 0 0.009096 0 0 ANAPC2 29882 broad.mit.edu 37 9 140074764 140074764 + Missense_Mutation SNP G G A TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr9:140074764G>A ENST00000323927.2 - 10 1763 c.1759C>T c.(1759-1761)Cca>Tca p.P587S NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 587 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) CCGAACGGTGGCTGCTCCTCT 0.642000 4 77 0 0 0.009096 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47621731 47621731 + Missense_Mutation SNP C C T TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr20:47621731C>T ENST00000371917.4 + 26 3557 c.3557C>T c.(3556-3558)cCc>cTc p.P1186L NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1186 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TTTCTGAGGCCCTTTGAGCAT 0.448000 12 91 0 0 0.013537 0 0 ANAPC2 29882 broad.mit.edu 37 9 140074765 140074765 + Silent SNP C C T TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr9:140074765C>T ENST00000323927.2 - 10 1762 c.1758G>A c.(1756-1758)caG>caA p.Q586Q NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 586 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) CGAACGGTGGCTGCTCCTCTG 0.647000 4 76 0 0 0.009096 0 0 RBM11 54033 broad.mit.edu 37 21 15599326 15599326 + Silent SNP A A G TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr21:15599326A>G ENST00000400577.3 + 5 567 c.558A>G c.(556-558)tcA>tcG p.S186S RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 186 nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) GACCCAGCTCATATAAATGGA 0.453000 7 199 0 0 0.004482 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 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 9 25 0 0 0.010729 0 0 LRRCC1 85444 broad.mit.edu 37 8 86050374 86050374 + Missense_Mutation SNP T T A TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr8:86050374T>A ENST00000414626.2 + 15 3427 c.2538T>A c.(2536-2538)gaT>gaA p.D846E LRRCC1_ENST00000360375.3_Missense_Mutation_p.D866E Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 866 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 CACAACTGGATGAGGTACTTG 0.318000 11 12 0 0 0.013537 0 0 ANKRD36BP2 0 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 2 4 --- --- --- --- MALAT1 0 broad.mit.edu 37 11 65272365 65272368 + RNA DEL TAAA TAAA - TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr11:65272365_65272368delTAAA ENST00000534336.1 + 0 7133_7136 NR_002819.2 CTATTTACTTTAAATAAACCAAAC 0.407 11 17 --- --- --- ---