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 YWHAG 7532 broad.mit.edu 37 7 75959220 75959220 + Nonsense_Mutation SNP C C A TCGA-EL-A3CW-01A-11D-A19J-08 TCGA-EL-A3CW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3847f72b-5594-44f1-9624-dbbb00aa8ae0 465c59b2-9a7c-4e5b-be9c-5e9a2db9f816 g.chr7:75959220C>A uc011kgj.1 - 1 635 c.418G>T c.(418-420)Gga>Tga p.G140* NM_012479 NP_036611 P61981 1433G_HUMAN Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG), mRNA. 140 G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity cytosol insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 CTTTTCTCTCCGGTGGCCACT 0.562000 7 143 0 0 1 0 0 RPAP3 79657 broad.mit.edu 37 12 48091473 48091473 + Silent SNP G G A rs150350108 TCGA-EL-A3CW-01A-11D-A19J-08 TCGA-EL-A3CW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3847f72b-5594-44f1-9624-dbbb00aa8ae0 465c59b2-9a7c-4e5b-be9c-5e9a2db9f816 g.chr12:48091473G>A uc001rpr.3 - 3 440 c.324C>T c.(322-324)gaC>gaT p.D108D RPAP3_uc010slk.2_5'UTR|RPAP3_uc001rps.3_Silent_p.D108D NM_024604 NP_001139548 Q9H6T3 RPAP3_HUMAN Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA. 108 binding endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Lung SC(27;0.192) GGGTACTATCGTCTTTGTCAA 0.353000 8 99 0 0 1 0 0 AP3M1 26985 broad.mit.edu 37 10 75883629 75883629 + Missense_Mutation SNP T T C TCGA-EL-A3CW-01A-11D-A19J-08 TCGA-EL-A3CW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3847f72b-5594-44f1-9624-dbbb00aa8ae0 465c59b2-9a7c-4e5b-be9c-5e9a2db9f816 g.chr10:75883629T>C uc001jwf.3 - 8 1626 c.1196A>G c.(1195-1197)tAt>tGt p.Y399C AP3M1_uc001jwg.3_Missense_Mutation_p.Y399C|AP3M1_uc001jwh.3_Missense_Mutation_p.Y399C|AP3M1_uc010qla.2_Missense_Mutation_p.Y345C NM_207012 NP_996895 Q9Y2T2 AP3M1_HUMAN Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 1, mRNA. 399 MHD. protein targeting to lysosome|vesicle-mediated transport Golgi apparatus|clathrin adaptor complex|lysosome protein binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 13 Prostate(51;0.0112) AAATGGCTTATATTTCTCCCC 0.363000 9 189 0 0 1 0 0 C19orf44 84167 broad.mit.edu 37 19 16614022 16614022 + Silent SNP C C T rs138964724 byFrequency TCGA-EL-A3CW-01A-11D-A19J-08 TCGA-EL-A3CW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3847f72b-5594-44f1-9624-dbbb00aa8ae0 465c59b2-9a7c-4e5b-be9c-5e9a2db9f816 g.chr19:16614022C>T uc002neh.1 + 2 979 c.906C>T c.(904-906)caC>caT p.H302H MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Silent_p.H302H|C19orf44_uc002neg.3_Silent_p.H302H|C19orf44_uc010eai.1_Non-coding_Transcript NM_032207 NP_115583 Q9H6X5 CS044_HUMAN Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA. 302 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 CACAGAGTCACGTTTCCAGTG 0.547000 6 90 0 0 1 0 0 C22orf40 150383 broad.mit.edu 37 22 46643010 46643010 + Silent SNP G G A TCGA-EL-A3CW-01A-11D-A19J-08 TCGA-EL-A3CW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3847f72b-5594-44f1-9624-dbbb00aa8ae0 465c59b2-9a7c-4e5b-be9c-5e9a2db9f816 g.chr22:46643010G>A uc003bhe.3 - 2 263 c.222C>T c.(220-222)ggC>ggT p.G74G C22orf40_uc003bhf.3_Non-coding_Transcript NM_207327 NP_997210 Q6NVV7 CV040_HUMAN Homo sapiens chromosome 22 open reading frame 40 (C22orf40), mRNA. 74 endometrium(1)|large_intestine(3)|lung(1)|prostate(1) 6 TACCCACCGGGCCCACACACA 0.617000 3 21 0 0 1 0 0 HAVCR2 84868 broad.mit.edu 37 5 156533625 156533625 + Missense_Mutation SNP A A C TCGA-EL-A3CW-01A-11D-A19J-08 TCGA-EL-A3CW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3847f72b-5594-44f1-9624-dbbb00aa8ae0 465c59b2-9a7c-4e5b-be9c-5e9a2db9f816 g.chr5:156533625A>C uc003lwl.3 - 1 661 c.407T>G c.(406-408)tTt>tGt p.F136C HAVCR2_uc003lwk.2_Intron NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA. 0 integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGGCATGCAAATGTCCACTC 0.423000 3 36 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CW-01A-11D-A19J-08 TCGA-EL-A3CW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3847f72b-5594-44f1-9624-dbbb00aa8ae0 465c59b2-9a7c-4e5b-be9c-5e9a2db9f816 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 3 74 0 0 1 0 0 L32131 0 broad.mit.edu 37 17 58512596 58512596 + RNA SNP G G A TCGA-EL-A3CW-01A-11D-A19J-08 TCGA-EL-A3CW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3847f72b-5594-44f1-9624-dbbb00aa8ae0 465c59b2-9a7c-4e5b-be9c-5e9a2db9f816 g.chr17:58512596G>A uc002iyr.1 - 0 c.762C>T Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12. TTTTCTGCAGGGCTATTCCCT 0.483000 3 55 0 0 1 0 0 TMEM161B 153396 broad.mit.edu 37 5 87493539 87493539 + Missense_Mutation SNP T T C TCGA-EL-A3CW-01A-11D-A19J-08 TCGA-EL-A3CW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3847f72b-5594-44f1-9624-dbbb00aa8ae0 465c59b2-9a7c-4e5b-be9c-5e9a2db9f816 g.chr5:87493539T>C uc003kjc.3 - 10 1258 c.1133A>G c.(1132-1134)tAt>tGt p.Y378C TMEM161B_uc011cty.2_Missense_Mutation_p.Y367C|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctx.2_Missense_Mutation_p.Y169C NM_153354 NP_699185 Q8NDZ6 T161B_HUMAN Homo sapiens transmembrane protein 161B (TMEM161B), mRNA. 378 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) AGGCGCCACATACTGCAGTGC 0.423000 4 85 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26572040 26572040 + Missense_Mutation SNP G G A TCGA-EL-A3CW-01A-11D-A19J-08 TCGA-EL-A3CW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3847f72b-5594-44f1-9624-dbbb00aa8ae0 465c59b2-9a7c-4e5b-be9c-5e9a2db9f816 g.chr12:26572040G>A uc001rhg.3 - 49 7469 c.7052C>T c.(7051-7053)gCg>gTg p.A2351V ITPR2_uc009zjg.1_Missense_Mutation_p.A502V NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 2351 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.V2350M(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CAGGACATACGCCACGTGATA 0.448000 4 59 0 0 1 0 0 MPZ 4359 broad.mit.edu 37 1 161279666 161279666 + Frame_Shift_Del DEL G G - TCGA-EL-A3CW-01A-11D-A19J-08 TCGA-EL-A3CW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3847f72b-5594-44f1-9624-dbbb00aa8ae0 465c59b2-9a7c-4e5b-be9c-5e9a2db9f816 g.chr1:161279666delG uc001gaf.4 - 0 97 c.30delC c.(28-30)cccfs p.P10fs NM_000530 NP_000521 P25189 MYP0_HUMAN Homo sapiens myelin protein zero (MPZ), mRNA. 10 synaptic transmission integral to plasma membrane structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) Breast(1374;0.181) BRCA - Breast invasive adenocarcinoma(70;0.00376) GGATAGGGCTGGGGCTGGATG 0.617 2 4 --- --- --- --- SOX4 6659 broad.mit.edu 37 6 21595266 21595267 + In_Frame_Ins INS - - GGC TCGA-EL-A3CW-01A-11D-A19J-08 TCGA-EL-A3CW-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3847f72b-5594-44f1-9624-dbbb00aa8ae0 465c59b2-9a7c-4e5b-be9c-5e9a2db9f816 g.chr6:21595266_21595267insGGC uc003ndi.3 + 0 1295_1296 c.501_502insGGC c.(499-504)insGGC p.173_174insG NM_003107 NP_003098 Q06945 SOX4_HUMAN Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA. 173 DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development mitochondrion|nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) gcggccatgggggcggcggcgg 0.738 3 5 --- --- --- ---