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 SLC6A2 6530 broad.mit.edu 37 16 55732393 55732393 + Missense_Mutation SNP G G A TCGA-FE-A23A-01A-11D-A17V-08 TCGA-FE-A23A-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60711e67-e8c1-470a-8e9e-1b87e0499e61 7ead3f16-6be4-4546-872e-6af784e1258c g.chr16:55732393G>A uc021tio.1 + 9 1453 c.1402G>A c.(1402-1404)Gtc>Atc p.V468I SLC6A2_uc002eif.3_Missense_Mutation_p.V468I|SLC6A2_uc002eig.3_Missense_Mutation_p.V468I|SLC6A2_uc002eii.3_Missense_Mutation_p.V363I|SLC6A2_uc002eij.3_Missense_Mutation_p.V182I|SLC6A2_uc021tip.1_5'Flank NM_001172504 NP_001165975 P23975 SC6A2_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA. 468 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TGGAATTTACGTCTTGACCCT 0.522000 7 43 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153186831 153186831 + Missense_Mutation SNP C C G TCGA-FE-A23A-01A-11D-A17V-08 TCGA-FE-A23A-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60711e67-e8c1-470a-8e9e-1b87e0499e61 7ead3f16-6be4-4546-872e-6af784e1258c g.chrX:153186831C>G uc004fjl.2 - 2 480 c.422G>C c.(421-423)cGc>cCc p.R141P ARHGAP4_uc011mzf.2_Missense_Mutation_p.R118P|ARHGAP4_uc004fjk.2_Missense_Mutation_p.R141P|ARHGAP4_uc010nup.2_Non-coding_Transcript NM_001164741 NP_001158213 P98171 RHG04_HUMAN Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 1, mRNA. 141 Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTTGACCAGGCGCCCCACGTC 0.682000 6 37 0 0 1 0 0 CIAPIN1 57019 broad.mit.edu 37 16 57474766 57474766 + Silent SNP C C T TCGA-FE-A23A-01A-11D-A17V-08 TCGA-FE-A23A-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60711e67-e8c1-470a-8e9e-1b87e0499e61 7ead3f16-6be4-4546-872e-6af784e1258c g.chr16:57474766C>T uc002ell.1 - 1 246 c.75G>A c.(73-75)ctG>ctA p.L25L CIAPIN1_uc002elm.1_Silent_p.L25L|CIAPIN1_uc010vhm.1_Silent_p.L25L NM_020313 NP_064709 Q6FI81 CPIN1_HUMAN Homo sapiens cytokine induced apoptosis inhibitor 1 (CIAPIN1), mRNA. 25 anti-apoptosis|apoptosis cytoplasm|nucleolus cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 CCAGACCTTTCAGAGCCTCCA 0.522000 9 57 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528322 20528322 + Missense_Mutation SNP T T A TCGA-FE-A23A-01A-11D-A17V-08 TCGA-FE-A23A-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60711e67-e8c1-470a-8e9e-1b87e0499e61 7ead3f16-6be4-4546-872e-6af784e1258c g.chr14:20528322T>A uc001vwn.1 + 0 119 c.119T>A c.(118-120)aTg>aAg p.M40K NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA. 40 M -> V (in dbSNP:rs1958716). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M40I(1) central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GCTACTGTGATGGGAAACATT 0.398000 12 36 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74528131 74528131 + Missense_Mutation SNP G G A TCGA-FE-A23A-01A-11D-A17V-08 TCGA-FE-A23A-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60711e67-e8c1-470a-8e9e-1b87e0499e61 7ead3f16-6be4-4546-872e-6af784e1258c g.chr6:74528131G>A uc003php.3 + 30 4363 c.3932G>A c.(3931-3933)aGt>aAt p.S1311N CD109_uc003phq.3_Missense_Mutation_p.S1294N|CD109_uc010kba.3_Missense_Mutation_p.S1234N NM_133493 NP_598000 Q6YHK3 CD109_HUMAN Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA. 1311 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCGGGTAGGAGTGGCATGGCT 0.408000 5 26 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-FE-A23A-01A-11D-A17V-08 TCGA-FE-A23A-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60711e67-e8c1-470a-8e9e-1b87e0499e61 7ead3f16-6be4-4546-872e-6af784e1258c g.chr19:9090831A>G uc002mkp.3 - 0 1188 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 3 69 0 0 1 0 0 STRN 6801 broad.mit.edu 37 2 37088300 37088300 + Silent SNP G G C TCGA-FE-A23A-01A-11D-A17V-08 TCGA-FE-A23A-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60711e67-e8c1-470a-8e9e-1b87e0499e61 7ead3f16-6be4-4546-872e-6af784e1258c g.chr2:37088300G>C uc002rpn.3 - 12 1653 c.1644C>G c.(1642-1644)ccC>ccG p.P548P STRN_uc010ezx.3_Silent_p.P511P NM_003162 NP_003153 O43815 STRN_HUMAN Homo sapiens striatin, calmodulin binding protein (STRN), mRNA. 548 Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) GGTCGATGTTGGGATTAGTGG 0.408000 3 35 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A23A-01A-11D-A17V-08 TCGA-FE-A23A-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60711e67-e8c1-470a-8e9e-1b87e0499e61 7ead3f16-6be4-4546-872e-6af784e1258c 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 10 21 0 0 1 0 0 HNRNPH2 3188 broad.mit.edu 37 X 100668067 100668067 + Missense_Mutation SNP C C T TCGA-FE-A23A-01A-11D-A17V-08 TCGA-FE-A23A-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60711e67-e8c1-470a-8e9e-1b87e0499e61 7ead3f16-6be4-4546-872e-6af784e1258c g.chrX:100668067C>T uc004ehm.3 + 1 1331 c.1091C>T c.(1090-1092)aCt>aTt p.T364I RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehn.3_Missense_Mutation_p.T364I|HNRNPH2_uc022cai.1_Missense_Mutation_p.T364I NM_019597 NP_062543 P55795 HNRH2_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA. 364 2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.|RRM 3. nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm RNA binding|nucleotide binding|protein binding breast(3)|large_intestine(2)|lung(6)|skin(1) 12 TTAAATTCTACTGCAGGAACA 0.433000 39 93 0 0 1 0 0 IRF3 3661 broad.mit.edu 37 19 50165681 50165681 + Splice_Site SNP C C T TCGA-FE-A23A-01A-11D-A17V-08 TCGA-FE-A23A-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60711e67-e8c1-470a-8e9e-1b87e0499e61 7ead3f16-6be4-4546-872e-6af784e1258c g.chr19:50165681C>T uc002pow.3 - 5 854 c.601_splice c.e5+1 p.E201_splice IRF3_uc002poy.2_Splice_Site_p.E201_splice|IRF3_uc021uxp.1_Splice_Site_p.E55_splice|IRF3_uc021uxq.1_Splice_Site_p.E55_splice|IRF3_uc002pot.2_Splice_Site_p.D201_splice|IRF3_uc021uxr.1_Splice_Site_p.D55_splice|IRF3_uc021uxs.1_Splice_Site_p.D55_splice|IRF3_uc021uxo.1_Splice_Site_p.E166_splice|IRF3_uc002pou.3_Splice_Site_p.E201_splice|IRF3_uc010end.2_Splice_Site_p.E201_splice|IRF3_uc002poz.1_Splice_Site_p.E201_splice|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank NM_001197122 NP_001184051 Q14653 IRF3_HUMAN Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 2, mRNA. 201 Involved in HERC5 binding. MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CTGACACTCACCTTCCCCCGG 0.662000 6 16 0 0 1 0 0 PAPOLG 64895 broad.mit.edu 37 2 60988874 60988874 + Splice_Site SNP A A G TCGA-FE-A23A-01A-11D-A17V-08 TCGA-FE-A23A-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60711e67-e8c1-470a-8e9e-1b87e0499e61 7ead3f16-6be4-4546-872e-6af784e1258c g.chr2:60988874A>G uc002sai.3 + 3 429 c.180_splice c.e3-2 p.R60_splice PAPOLG_uc002saj.3_Splice_Site|PAPOLG_uc002sak.3_Splice_Site NM_022894 NP_075045 Q9BWT3 PAPOG_HUMAN Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA. 60 RNA polyadenylation|mRNA processing|transcription, DNA-dependent nucleus ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) TTTTTTTTATAGGCTGGTGGT 0.328000 3 40 0 0 1 0 0