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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut SPNS3 201305 broad.mit.edu 37 17 4337299 4337299 + Missense_Mutation SNP G A 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 uc002fxt.3 + 0 81 c.37G>A c.(37-39)Ggg>Agg p.G13R SPNS3_uc002fxu.3_5'UTR NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA. 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 14 3 0 0 1 0 0 LOC650368 650368 broad.mit.edu 37 11 3424149 3424149 + RNA SNP C T 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 uc010qxs.1 + 5 c.518C>T LOC650368_uc001lxy.2_Non-coding_Transcript Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA. TCATAGAGGACGAAGACTTCT 0.562000 21 3 0 0 1 0 0 MMD2 221938 broad.mit.edu 37 7 4965137 4965137 + Missense_Mutation SNP T 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.chr7:4965137T>C uc003sno.4 - 1 270 c.74A>G c.(73-75)cAc>cGc p.H25R MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.4_Missense_Mutation_p.H25R|MMD2_uc010ksq.3_Missense_Mutation_p.H25R NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA. 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 70 25 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47746247 47746247 + Missense_Mutation SNP G A 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 uc001crd.1 - 11 2038 c.1883C>T c.(1882-1884)tCc>tTc p.S628F TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S581F|STIL_uc010omo.1_Missense_Mutation_p.S628F|STIL_uc001crc.1_Missense_Mutation_p.S628F|STIL_uc001cre.1_Missense_Mutation_p.S628F|STIL_uc001crf.1_Missense_Mutation_p.S241F|STIL_uc001crg.1_Missense_Mutation_p.S581F NM_001048166 NP_001041631 Q15468 STIL_HUMAN Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA. 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 141 47 0 0 1 0 0 PFKM 5213 broad.mit.edu 37 12 48536634 48536634 + Missense_Mutation SNP G A 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 uc001rrb.2 + 19 2210 c.1936G>A c.(1936-1938)Ggc>Agc p.G646S PFKM_uc001rra.2_Missense_Mutation_p.G260S|PFKM_uc001rrc.3_Missense_Mutation_p.G575S|PFKM_uc001rrd.3_Missense_Mutation_p.G260S|PFKM_uc001rre.2_Missense_Mutation_p.G575S|PFKM_uc021qxj.1_Missense_Mutation_p.G575S|PFKM_uc001rrg.2_Missense_Mutation_p.G544S NM_001166686 NP_001160160 P08237 K6PF_HUMAN Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA. 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 53 21 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167245760 167245760 + Missense_Mutation SNP T 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.chr3:167245760T>C uc003fev.1 - 10 1700 c.1396A>G c.(1396-1398)Act>Gct p.T466A WDR49_uc003feu.1_Missense_Mutation_p.T291A|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 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 39 16 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41385035 41385035 + Missense_Mutation SNP G T 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 uc002yyq.1 - 32 6417 c.5965C>A c.(5965-5967)Caa>Aaa p.Q1989K DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 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 p.S1988F(1) 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 28 9 2.17888e-05 2.32914e-05 1 1 0 AK302694 0 broad.mit.edu 37 10 30993404 30993404 + Silent SNP G A A rs11008192 by1000genomes 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.chr10:30993404G>A uc010qdx.1 + 6 1100 c.558G>A c.(556-558)acG>acA p.T186T SubName: Full=cDNA FLJ59642, highly similar to Supervillin; TGCCCCAGACGACAGCAGGTG 0.577000 27 3 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57602232 57602232 + Missense_Mutation SNP A G 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 uc009vzx.1 - 3 610 c.290T>C c.(289-291)tTt>tCt p.F97S DAB1_uc001cyt.1_Missense_Mutation_p.F97S|DAB1_uc001cyq.1_Missense_Mutation_p.F97S|DAB1_uc001cyr.1_Missense_Mutation_p.F97S|DAB1_uc009vzw.1_Missense_Mutation_p.F97S|DAB1_uc001cys.1_Missense_Mutation_p.F97S NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 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 26 3 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546389 11546389 + Missense_Mutation SNP C T 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.chr12:11546389C>T uc010shk.1 - 2 658 c.623G>A c.(622-624)gGa>gAa p.G208E NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTTGTTGCCTCCTTGTGGGGG 0.602000 141 45 0 0 1 0 0 KLC2 64837 broad.mit.edu 37 11 66032657 66032657 + Missense_Mutation SNP G A 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 uc010rov.1 + 10 1528 c.1285G>A c.(1285-1287)Gcc>Acc p.A429T KLC2_uc010row.1_Missense_Mutation_p.A429T|KLC2_uc001ohb.2_Missense_Mutation_p.A429T|KLC2_uc010rox.1_Missense_Mutation_p.A352T|KLC2_uc001ohc.2_Missense_Mutation_p.A429T|KLC2_uc001ohd.2_Missense_Mutation_p.A352T|KLC2_uc001ohe.1_Missense_Mutation_p.A290T NM_001134775 NP_073733 Q9H0B6 KLC2_HUMAN Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA. 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) 56 5 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122674691 122674691 + Missense_Mutation SNP C A 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 uc009zxm.3 + 4 702 c.677C>A c.(676-678)tCc>tAc p.S226Y LRRC43_uc001ubw.4_Missense_Mutation_p.S41Y|LRRC43_uc009zxn.3_5'UTR NM_001098519 NP_689972 Q8N309 LRC43_HUMAN Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA. 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 87 31 1.08312e-15 1.19917e-15 1 1 0 HDAC7 51564 broad.mit.edu 37 12 48177641 48177641 + Missense_Mutation SNP C T 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 uc010slo.2 - 25 3154 c.2959G>A c.(2959-2961)Gaa>Aaa p.E987K HDAC7_uc001rqe.3_Missense_Mutation_p.E421K|HDAC7_uc001rqj.4_Missense_Mutation_p.E950K|HDAC7_uc001rqk.4_Missense_Mutation_p.E970K NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA. 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 NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-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 5 3 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152521048 152521048 + Missense_Mutation SNP C A 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 uc021vrb.1 - 41 5447 c.5418G>T c.(5416-5418)aaG>aaT p.K1806N NEB_uc002txu.3_Missense_Mutation_p.K1806N|NEB_uc021vrc.1_Missense_Mutation_p.K1806N|NEB_uc010fnx.3_Missense_Mutation_p.K1806N|NEB_uc021vrd.1_Missense_Mutation_p.K1806N NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 1806 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol 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 C20orf72 92667 broad.mit.edu 37 20 17950555 17950555 + Missense_Mutation SNP T G 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 uc002wqh.3 + 1 135 c.53T>G c.(52-54)tTt>tGt p.F18C C20orf72_uc010gco.3_Non-coding_Transcript|C20orf72_uc010gcp.3_5'Flank|SNX5_uc002wqc.3_5'Flank|SNX5_uc002wqd.3_5'Flank|SNX5_uc002wqe.3_5'Flank|SNX5_uc010zrt.1_5'Flank|AK296947_uc021way.1_5'Flank NM_052865 NP_443097 Q9BQP7 CT072_HUMAN Homo sapiens chromosome 20 open reading frame 72 (C20orf72), mRNA. 18 breast(1)|large_intestine(2)|lung(2)|urinary_tract(2) 7 AGTTCAAAGTTTTCTGTGGAA 0.413000 70 15 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92472755 92472755 + Missense_Mutation SNP T A 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 uc001xzy.3 - 10 1939 c.1565A>T c.(1564-1566)cAa>cTa p.Q522L TRIP11_uc010auf.2_Missense_Mutation_p.Q258L NM_004239 NP_004230 Q15643 TRIPB_HUMAN Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA. 522 transcription from RNA polymerase II promoter Golgi apparatus|cytoskeleton|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 28 15 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T 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 uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) 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 44 22 0 0 1 0 0 CCDC99 54908 broad.mit.edu 37 5 169021224 169021224 + Missense_Mutation SNP C T 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 uc003mae.4 + 4 886 c.607C>T c.(607-609)Cgc>Tgc p.R203C CCDC99_uc010jjj.3_Missense_Mutation_p.R132C|CCDC99_uc011deq.2_Missense_Mutation_p.R20C|CCDC99_uc010jjk.3_Intron NM_017785 NP_060255 Q96EA4 SPDLY_HUMAN Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA. 203 cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole kinetochore binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1) 25 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAACCTAATGCGCCAGGTAGA 0.388000 46 7 0 0 1 0 0 PDK4 5166 broad.mit.edu 37 7 95216419 95216419 + Missense_Mutation SNP C G 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 uc003uoa.3 - 9 1318 c.998G>C c.(997-999)gGc>gCc p.G333A PDK4_uc003unz.3_Missense_Mutation_p.G121A NM_002612 NP_002603 Q16654 PDK4_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA. 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 8 16 0 0 1 0 0 X97876 0 broad.mit.edu 37 9 66499716 66499716 + Missense_Mutation SNP A G G rs141617852 by1000genomes 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.chr9:66499716A>G uc004aee.1 + 0 526 c.526A>G c.(526-528)Aat>Gat p.N176D X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). CCTGGAGCCCAATCTGCTGGA 0.607000 38 8 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160761893 160761893 + Missense_Mutation SNP G A 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 uc003lys.1 - 7 916 c.698C>T c.(697-699)tCc>tTc p.S233F GABRB2_uc011deh.1_Missense_Mutation_p.S72F|GABRB2_uc003lyr.1_Missense_Mutation_p.S233F|GABRB2_uc003lyt.1_Missense_Mutation_p.S233F|GABRB2_uc021yhg.1_Missense_Mutation_p.S170F NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 233 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel 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 45 9 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51456246 51456246 + Silent SNP G A 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 uc003dbe.2 - 14 3347 c.3162C>T c.(3160-3162)ttC>ttT p.F1054F VPRBP_uc021wys.1_Silent_p.F1053F|VPRBP_uc003dbf.1_Silent_p.F383F NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA. 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 34 18 0 0 1 0 0 PORCN 64840 broad.mit.edu 37 X 48372982 48372982 + Nonsense_Mutation SNP G A 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 uc010nie.1 + 9 1073 c.915G>A c.(913-915)tgG>tgA p.W305* PORCN_uc004djr.1_Nonsense_Mutation_p.W300*|PORCN_uc004djs.1_Nonsense_Mutation_p.W294*|PORCN_uc011mlx.1_Nonsense_Mutation_p.W223*|PORCN_uc004dju.1_Nonsense_Mutation_p.W163*|PORCN_uc004djv.1_Nonsense_Mutation_p.W305*|PORCN_uc004djw.1_Nonsense_Mutation_p.W299* NM_203475 NP_982301 Q9H237 PORCN_HUMAN Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA. 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 41 20 0 0 1 0 0 COIL 8161 broad.mit.edu 37 17 55028117 55028118 + Frame_Shift_Ins INS - T 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 uc002iuu.3 - 1 516_517 c.485_486insA c.(484-486)aacfs p.N162fs NM_004645 NP_004636 P38432 COIL_HUMAN Homo sapiens coilin (COIL), mRNA. 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 --- 167 --- --- 7 --- PCDH19 57526 broad.mit.edu 37 X 99663560 99663562 + In_Frame_Del DEL 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 uc010nmz.3 - 0 1710_1712 c.34_36delCTG c.(34-36)ctgdel p.L12del PCDH19_uc004efw.4_In_Frame_Del_p.L12del|PCDH19_uc004efx.4_In_Frame_Del_p.L12del NM_001184880 NP_001171809 Q8TAB3 PCD19_HUMAN Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA. 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 --- 5 --- --- 3 ---