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 MMD2 221938 broad.mit.edu 37 7 4965137 4965137 + Missense_Mutation SNP T T C TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr7:4965137T>C ENST00000404774.3 - 2 268 c.74A>G c.(73-75)cAc>cGc p.H25R MMD2_ENST00000401401.3_Missense_Mutation_p.H25R|MMD2_ENST00000406755.1_Missense_Mutation_p.H25R NM_001100600.1 NP_001094070.1 Q8IY49 PAQRA_HUMAN monocyte to macrophage differentiation-associated 2 25 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) GTACCTCTTGTGGGCAGGGAC 0.582000 25 70 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 5 17 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167245760 167245760 + Missense_Mutation SNP T T C TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr3:167245760T>C ENST00000308378.3 - 11 1701 c.1396A>G c.(1396-1398)Act>Gct p.T466A WDR49_ENST00000476376.1_Missense_Mutation_p.T291A|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 466 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CTTATCAGAGTTGGGGCCTTG 0.393000 16 39 0 0 1 0 0 KLC2 64837 broad.mit.edu 37 11 66032657 66032657 + Missense_Mutation SNP G G A TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr11:66032657G>A ENST00000394065.2 + 9 1886 c.868G>A c.(868-870)Gcc>Acc p.A290T KLC2_ENST00000421552.1_Missense_Mutation_p.A352T|KLC2_ENST00000417856.1_Missense_Mutation_p.A429T|KLC2_ENST00000394066.2_Missense_Mutation_p.A352T|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000316924.5_Missense_Mutation_p.A429T|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394067.2_Missense_Mutation_p.A429T Q9H0B6 KLC2_HUMAN kinesin light chain 2 429 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 CCGGGACAGCGCCCCCTATGG 0.657000 OREG0021098 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 56 0 0 1 0 0 HDAC7 51564 broad.mit.edu 37 12 48177641 48177641 + Missense_Mutation SNP C C T TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr12:48177641C>T ENST00000080059.7 - 26 2958 c.2959G>A c.(2959-2961)Gaa>Aaa p.E987K HDAC7_ENST00000552960.1_Missense_Mutation_p.E970K|HDAC7_ENST00000427332.2_Missense_Mutation_p.E948K|HDAC7_ENST00000354334.3_Missense_Mutation_p.E950K|HDAC7_ENST00000380610.4_3'UTR NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 948 negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) TTCATAGGTTCTTCCTCCTCC 0.602000 3 5 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3424149 3424149 + RNA SNP C C T rs112841660 TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr11:3424149C>T ENST00000529482.1 + 0 808 TCATAGAGGACGAAGACTTCT 0.562000 3 21 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122674691 122674691 + Missense_Mutation SNP C C A TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr12:122674691C>A ENST00000339777.4 + 5 705 c.677C>A c.(676-678)tCc>tAc p.S226Y LRRC43_ENST00000425921.1_Missense_Mutation_p.S41Y NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 226 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) AACCTCGTCTCCCTGGACCTG 0.647000 31 87 1.08312e-15 1.19517e-15 1 1 0 SPDL1 54908 broad.mit.edu 37 5 169021224 169021224 + Missense_Mutation SNP C C T TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr5:169021224C>T ENST00000265295.4 + 5 886 c.607C>T c.(607-609)Cgc>Tgc p.R203C SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 TAACCTAATGCGCCAGGTAGA 0.388000 7 46 0 0 1 0 0 SPNS3 201305 broad.mit.edu 37 17 4337299 4337299 + Missense_Mutation SNP G G A TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr17:4337299G>A ENST00000355530.2 + 1 317 c.37G>A c.(37-39)Ggg>Agg p.G13R SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_5'UTR NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 13 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 CCCTGAGCCTGGGCCAGGAGG 0.677000 3 14 0 0 1 0 0 PFKM 5213 broad.mit.edu 37 12 48536634 48536634 + Missense_Mutation SNP G G A TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr12:48536634G>A ENST00000340802.6 + 20 2160 c.1936G>A c.(1936-1938)Ggc>Agc p.G646S PFKM_ENST00000547587.1_Missense_Mutation_p.G575S|PFKM_ENST00000395233.2_Missense_Mutation_p.G544S|PFKM_ENST00000312352.7_Missense_Mutation_p.G575S|PFKM_ENST00000551804.1_Missense_Mutation_p.G544S|PFKM_ENST00000359794.5_Missense_Mutation_p.G575S NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 575 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GACTATGGGTGGCTACTGTGG 0.542000 21 53 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92472755 92472755 + Missense_Mutation SNP T T A TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr14:92472755T>A ENST00000267622.4 - 11 1938 c.1565A>T c.(1564-1566)cAa>cTa p.Q522L NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 522 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TCCTTCATTTTGTTGTTTTGA 0.289000 T PDGFRB AML 15 28 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47746247 47746247 + Missense_Mutation SNP G G A TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr1:47746247G>A ENST00000360380.3 - 13 2246 c.1883C>T c.(1882-1884)tCc>tTc p.S628F STIL_ENST00000243182.6_Missense_Mutation_p.S628F|STIL_ENST00000371877.3_Missense_Mutation_p.S628F|STIL_ENST00000396221.2_Missense_Mutation_p.S628F|STIL_ENST00000337817.5_Missense_Mutation_p.S628F Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 628 PIN1-binding (By similarity). cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) ATCTTGAATGGATCCAACTGT 0.418000 47 141 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 4 29 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152521048 152521048 + Missense_Mutation SNP C C A TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr2:152521048C>A ENST00000427231.2 - 44 5620 c.5418G>T c.(5416-5418)aaG>aaT p.K1806N NEB_ENST00000397345.3_Missense_Mutation_p.K1806N|NEB_ENST00000603639.1_Missense_Mutation_p.K1806N|NEB_ENST00000409198.1_Missense_Mutation_p.K1806N|NEB_ENST00000172853.10_Missense_Mutation_p.K1806N|NEB_ENST00000604864.1_Missense_Mutation_p.K1806N NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1806 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTCTTGCAGCCTTTATTGCAA 0.428000 5 5 0.000602214 0.000602214 1 1 0 PDK4 5166 broad.mit.edu 37 7 95216419 95216419 + Missense_Mutation SNP C C G TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr7:95216419C>G ENST00000005178.5 - 10 1195 c.998G>C c.(997-999)gGc>gCc p.G333A NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 333 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) AATTGGCAAGCCGTAACCAAA 0.388000 16 8 0 0 1 0 0 PORCN 64840 broad.mit.edu 37 X 48372982 48372982 + Nonsense_Mutation SNP G G A TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chrX:48372982G>A ENST00000367574.4 + 8 1174 c.669G>A c.(667-669)tgG>tgA p.W223* PORCN_ENST00000326194.6_Nonsense_Mutation_p.W305*|PORCN_ENST00000361988.3_Nonsense_Mutation_p.W294*|PORCN_ENST00000359882.4_Nonsense_Mutation_p.W299*|PORCN_ENST00000355961.4_Nonsense_Mutation_p.W300*|PORCN_ENST00000537758.1_Nonsense_Mutation_p.W305*|PORCN_ENST00000355092.3_Nonsense_Mutation_p.W299* Q9H237 PORCN_HUMAN porcupine homolog (Drosophila) 305 Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCACAAGCTGGAACCTGCCCA 0.483000 20 41 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41385035 41385035 + Missense_Mutation SNP G G T TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr21:41385035G>T ENST00000400454.1 - 33 6442 c.5965C>A c.(5965-5967)Caa>Aaa p.Q1989K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1989 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGTGATTCTTGGGAGCTGCTC 0.562000 9 28 2.17888e-05 2.32414e-05 1 1 0 GABRB2 2561 broad.mit.edu 37 5 160761893 160761893 + Missense_Mutation SNP G G A TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr5:160761893G>A ENST00000274547.2 - 8 915 c.698C>T c.(697-699)tCc>tTc p.S233F GABRB2_ENST00000517901.1_Missense_Mutation_p.S170F|GABRB2_ENST00000520240.1_Missense_Mutation_p.S233F|GABRB2_ENST00000353437.6_Missense_Mutation_p.S233F|GABRB2_ENST00000517547.1_Missense_Mutation_p.S73F|GABRB2_ENST00000393959.1_Missense_Mutation_p.S233F NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 233 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AAAGCTGAGGGATAACCTGGG 0.378000 9 45 0 0 1 0 0 TCP10 6953 broad.mit.edu 37 6 167796383 167796383 + Translation_Start_Site SNP C C T TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr6:167796383C>T ENST00000366827.2 - 0 190 TCP10_ENST00000397829.4_De_novo_Start_OutOfFrame|TCP10_ENST00000476779.2_De_novo_Start_OutOfFrame Q12799 TCP10_HUMAN t-complex 10 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CTCCCGGGCACGGGTCTTCTG 0.647000 4 3 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57602232 57602232 + Missense_Mutation SNP A A G TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr1:57602232A>G ENST00000371236.2 - 4 553 c.290T>C c.(289-291)tTt>tCt p.F97S DAB1_ENST00000371230.1_Missense_Mutation_p.F97S|DAB1_ENST00000371231.1_Missense_Mutation_p.F97S|DAB1_ENST00000414851.2_Missense_Mutation_p.F97S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.F97S|DAB1_ENST00000420954.2_Missense_Mutation_p.F97S|DAB1_ENST00000371234.4_Missense_Mutation_p.F97S O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 97 PID. cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CTTCTCATCAAAGATTTTGAT 0.413000 3 26 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 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 22 44 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51456246 51456246 + Silent SNP G G A TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr3:51456246G>A ENST00000335891.5 - 8 1983 c.1974C>T c.(1972-1974)ttC>ttT p.F658F Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1107 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) CAAGCATCAGGAACCGCTCCC 0.498000 18 34 0 0 1 0 0 MGME1 92667 broad.mit.edu 37 20 17950555 17950555 + Missense_Mutation SNP T T G TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr20:17950555T>G ENST00000377710.5 + 2 341 c.53T>G c.(52-54)tTt>tGt p.F18C MGME1_ENST00000377704.4_Missense_Mutation_p.F18C|MGME1_ENST00000377709.1_Missense_Mutation_p.F18C NM_052865.2 NP_443097.1 mitochondrial genome maintenance exonuclease 1 AGTTCAAAGTTTTCTGTGGAA 0.413000 15 70 0 0 1 0 0 PBX2P1 5088 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 3 3 --- --- --- --- PMS2CL 441194 broad.mit.edu 37 7 6774808 6774809 + RNA INS - - A rs79351634 TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr7:6774808_6774809insA ENST00000486256.1 + 0 748 NR_002217.1 gaccttgtctcaaaaaaaaaac 0.470 2 4 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028117 55028118 + Frame_Shift_Ins INS - - T TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chr17:55028117_55028118insT ENST00000240316.4 - 2 519_520 c.485_486insA c.(484-486)aaafs p.K162fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 162 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) TTTTTCTCTTGTTTTTTTTGCT 0.366 7 166 --- --- --- --- PCDH19 57526 broad.mit.edu 37 X 99663560 99663562 + In_Frame_Del DEL CAG CAG - TCGA-EB-A3XE-01A-12D-A23B-08 TCGA-EB-A3XE-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac 6e985c20-0123-4be3-9c88-2301cb76f604 g.chrX:99663560_99663562delCAG ENST00000373034.4 - 1 1709_1711 c.34_36delCTG c.(34-36)del p.L12del PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del|PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 12 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 ACAGTATGGCCAGCAGCAGCAGC 0.665 3 5 --- --- --- ---