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 NCOR1P1 0 broad.mit.edu 37 20 26084296 26084296 + RNA SNP A A G rs61752037 by1000genomes TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr20:26084296A>G ENST00000478176.1 - 0 161 NR_003678.1 p.F40F(1) GTTTGCCTCCAAATGCTGGAT 0.378000 4 30 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390445 45390445 + Silent SNP A A G TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr6:45390445A>G ENST00000371438.1 + 2 532 c.174A>G c.(172-174)caA>caG p.Q58Q RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 58 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 4 44 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 7 111 0 0 1 0 0 ATXN7L1 222255 broad.mit.edu 37 7 105401890 105401890 + Silent SNP C C T rs150437313 byFrequency TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr7:105401890C>T ENST00000318724.4 - 4 398 c.375G>A c.(373-375)agG>agA p.R125R ATXN7L1_ENST00000478915.1_Silent_p.R74R|ATXN7L1_ENST00000419735.3_Intron NM_152749.3 NP_689962.1 Q9ULK2 AT7L1_HUMAN ataxin 7-like 1 125 endometrium(1)|large_intestine(4)|lung(5) 10 CTTCATTTCTCCTGTTGTCTT 0.423000 5 124 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228481123 228481123 + Missense_Mutation SNP G G A TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr1:228481123G>A ENST00000570156.2 + 46 12298 c.12224G>A c.(12223-12225)cGg>cAg p.R4075Q OBSCN_ENST00000366707.4_Missense_Mutation_p.R765Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3646Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3646Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R765Q|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2493Q NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3116 Ig-like 42. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCCGTGCTGCGGTGTGAGCTG 0.587000 3 40 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39241096 39241096 + Missense_Mutation SNP C C A TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr2:39241096C>A ENST00000426016.1 - 13 2061 c.1975G>T c.(1975-1977)Gat>Tat p.D659Y SOS1_ENST00000395038.2_Missense_Mutation_p.D659Y|SOS1_ENST00000402219.2_Missense_Mutation_p.D659Y Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 659 N-terminal Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) GCTATGCGATCAGCTTCTGTT 0.348000 Noonan syndrome 3 41 0.115264 0.121668 1 1 0 KRT16P2 0 broad.mit.edu 37 17 16734855 16734855 + RNA SNP C C T rs688852 by1000genomes TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr17:16734855C>T ENST00000579062.1 - 0 460 p.R183Q(1) CACAGTCTGCCGCAGGGCCAG 0.632000 9 20 0 0 1 0 0 C6orf89 221477 broad.mit.edu 37 6 36884339 36884339 + Missense_Mutation SNP G G T TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr6:36884339G>T ENST00000480824.2 + 7 1108 c.814G>T c.(814-816)Gtg>Ttg p.V272L C6orf89_ENST00000355190.3_Missense_Mutation_p.V279L|C6orf89_ENST00000373685.1_Missense_Mutation_p.V272L|C6orf89_ENST00000510325.2_Missense_Mutation_p.V166L|C6orf89_ENST00000359359.2_Missense_Mutation_p.V166L Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 272 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 AGAACCTGTTGTGGGGAGTAA 0.423000 4 64 1 1 1 1 0 INTS3 65123 broad.mit.edu 37 1 153745028 153745028 + Missense_Mutation SNP G G A TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr1:153745028G>A ENST00000456435.1 + 27 3501 c.2315G>A c.(2314-2316)cGg>cAg p.R772Q INTS3_ENST00000512605.1_Missense_Mutation_p.R772Q|INTS3_ENST00000435409.2_Intron|INTS3_ENST00000476843.1_Intron|INTS3_ENST00000318967.2_Intron Q68E01 INT3_HUMAN integrator complex subunit 3 0 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACCCACACTCGGGATAAAACA 0.572000 9 12 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 45 0 0 1 0 0 TPM4 7171 broad.mit.edu 37 19 16199868 16199868 + Silent SNP C C T TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr19:16199868C>T ENST00000300933.4 + 5 729 c.469C>T c.(469-471)Ctg>Ttg p.L157L TPM4_ENST00000344824.6_Silent_p.L193L|TPM4_ENST00000538887.1_Silent_p.L193L NM_003290.2 NP_003281.1 P67936 TPM4_HUMAN tropomyosin 4 157 cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle TPM4/ALK(12) breast(1)|large_intestine(3) 4 ATGTGGTGACCTGGAAGAAGA 0.438000 T ALK ALCL OREG0025329 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 36 0 0 1 0 0 DNM1P46 0 broad.mit.edu 37 15 100340420 100340420 + RNA SNP G G A TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr15:100340420G>A ENST00000341853.1 - 0 506 NR_003260.1 CCACGCGAGCGCAGGTTGGAC 0.602000 3 9 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212634 78212634 + RNA SNP T T A TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr15:78212634T>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA GGACCGCTTCTCTGCAGCTCG 0.552000 3 38 0 0 1 0 0 HSPA5 3309 broad.mit.edu 37 9 127999360 127999360 + Silent SNP A A C TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr9:127999360A>C ENST00000324460.6 - 8 1679 c.1476T>G c.(1474-1476)cgT>cgG p.R492R NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 492 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) GTGGGACCCCACGAGGAGCAG 0.423000 Prostate(1;0.17) 15 96 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179610555 179610555 + Silent SNP A A G TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr2:179610555A>G ENST00000360870.5 - 46 16794 c.16572T>C c.(16570-16572)taT>taC p.Y5524Y TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8994 Ig-like 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTATTGGTGCATAACAGTCAG 0.418000 46 76 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 5 42 0 0 1 0 0 SPAG9 9043 broad.mit.edu 37 17 49083476 49083476 + Missense_Mutation SNP T T C TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr17:49083476T>C ENST00000262013.7 - 11 1602 c.1394A>G c.(1393-1395)aAg>aGg p.K465R SPAG9_ENST00000510283.1_Missense_Mutation_p.K308R|SPAG9_ENST00000505279.1_Missense_Mutation_p.K451R|SPAG9_ENST00000357122.4_Missense_Mutation_p.K451R NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 465 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) TTCTCTGTTCTTTTCCTCTAG 0.408000 5 126 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084295 26084295 + RNA SNP C C T rs76611503 by1000genomes TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr20:26084295C>T ENST00000478176.1 - 0 162 NR_003678.1 p.G41R(1) TGTTTGCCTCCAAATGCTGGA 0.373000 3 30 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb 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 41 39 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38287336 38287336 + Silent SNP C C T TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr8:38287336C>T ENST00000341462.5 - 3 1163 c.222G>A c.(220-222)gcG>gcA p.A74A FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000532791.1_Silent_p.A74A|FGFR1_ENST00000397108.4_Silent_p.A74A|FGFR1_ENST00000397113.2_Silent_p.A74A|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000335922.5_Silent_p.A66A|FGFR1_ENST00000425967.3_Silent_p.A107A|FGFR1_ENST00000447712.2_Silent_p.A74A|FGFR1_ENST00000397091.5_Silent_p.A74A P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 74 Ig-like C2-type 1. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GGTTGCTTTCCGCCAGCTGCA 0.667000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 5 14 0 0 1 0 0 CTD-2503O16.4 0 broad.mit.edu 37 5 74279486 74279486 + RNA DEL A A - TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr5:74279486delA ENST00000505200.1 - 0 335 tcctgactccaaaagctgggc 0.433 2 4 --- --- --- --- STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA GGTGCGGGCCTCCCCCTTCCCC 0.639 2 4 --- --- --- --- TRBV7-6 0 broad.mit.edu 37 7 142139683 142139684 + RNA INS - - A TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr7:142139683_142139684insA ENST00000390374.3 - 0 94 cctacacacaGAAAAAAAAATG 0.490 7 55 --- --- --- --- CWF19L2 143884 broad.mit.edu 37 11 107207441 107207442 + Splice_Site INS - - A TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr11:107207441_107207442insA ENST00000282251.5 - 15 2230 c.e15-2 NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TCTGAACATCTAAAAAAAAAAA 0.257 3 5 --- --- --- --- RP11-160E2.17 0 broad.mit.edu 37 17 18988562 18988562 + RNA DEL T T - TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr17:18988562delT ENST00000442355.2 + 0 272 CTGATGTGTGTTTTTTTTTTT 0.279 3 3 --- --- --- --- PPM1D 8493 broad.mit.edu 37 17 58734159 58734159 + Frame_Shift_Del DEL C C - TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr17:58734159delC ENST00000305921.3 + 5 1449 c.1217delC c.(1216-1218)acfs p.T406fs NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 406 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) AGTCAAGAAACCTGTGTGATG 0.398 34 56 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-ET-A3BW-01A-11D-A19J-08 TCGA-ET-A3BW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6eb56ed7-8cea-4642-975b-97ec5ed2c779 799011ae-fecf-4a42-859b-e4b3ab935ffb g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 7 155 --- --- --- ---