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 FRAS1 80144 broad.mit.edu 37 4 79360116 79360116 + Silent SNP C C G TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr4:79360116C>G uc003hlb.2 + 39 5867 c.5427C>G c.(5425-5427)gtC>gtG p.V1809V FRAS1_uc003hkw.3_Silent_p.V1809V|FRAS1_uc010ijj.2_Silent_p.V229V NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1808 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ATTTCTCTGTCTCTGACATGG 0.378000 52 94 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183472085 183472085 + Missense_Mutation SNP A A G TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr3:183472085A>G uc003fly.2 + 10 1517 c.1322A>G c.(1321-1323)cAg>cGg p.Q441R NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN Homo sapiens YEATS domain containing 2 (YEATS2), mRNA. 441 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCACAAAGTCAGGTTCCTAAT 0.448000 3 61 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72202102 72202102 + Missense_Mutation SNP A A G TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr14:72202102A>G uc001xms.3 + 19 5541 c.5180A>G c.(5179-5181)tAc>tGc p.Y1727C SIPA1L1_uc001xmt.3_Missense_Mutation_p.Y1706C|SIPA1L1_uc001xmu.3_Missense_Mutation_p.Y1706C|SIPA1L1_uc001xmv.3_Missense_Mutation_p.Y1727C|SIPA1L1_uc010ttm.2_Missense_Mutation_p.Y1181C NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 1727 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity p.P1726L(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ATGAAGCCTTACAGCAGGTTG 0.542000 9 79 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127737869 127737869 + Missense_Mutation SNP G G A TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr10:127737869G>A uc001ljk.2 - 15 2292 c.1879C>T c.(1879-1881)Ccg>Tcg p.P627S ADAM12_uc010qul.1_Missense_Mutation_p.P578S|ADAM12_uc001ljm.3_Missense_Mutation_p.P627S|ADAM12_uc001ljn.3_Missense_Mutation_p.P624S|ADAM12_uc001ljl.4_Missense_Mutation_p.P624S NM_003474 NP_003465 O43184 ADA12_HUMAN Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA. 627 Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CCTGGGTCCGGCATGTCATCG 0.527000 5 239 0 0 1 0 0 RBM7 10179 broad.mit.edu 37 11 114271421 114271421 + Missense_Mutation SNP C C T TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr11:114271421C>T uc001pow.3 + 0 38 c.28C>T c.(28-30)Cgc>Tgc p.R10C C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.4_5'Flank|RBM7_uc001pov.3_Missense_Mutation_p.R10C|RBM7_uc001pox.3_5'UTR NM_016090 NP_057174 Q9Y580 RBM7_HUMAN Homo sapiens RNA binding motif protein 7 (RBM7), mRNA. 10 RRM. meiosis RNA binding|nucleotide binding|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) GGAAGCGGATCGCACTCTCTT 0.627000 23 51 0 0 1 0 0 DQ575741 0 broad.mit.edu 37 15 100340438 100340438 + Splice_Site SNP C C T TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr15:100340438C>T uc002bvt.1 + 1 c.1_splice c.e1-1 DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript|DQ571121_uc021sxm.1_5'Flank|DQ590616_uc002bvp.3_5'Flank|DNM1P46_uc021sxn.1_Non-coding_Transcript|DNM1P46_uc010urz.1_Non-coding_Transcript|DNM1P46_uc010bow.2_Non-coding_Transcript Homo sapiens piRNA piR-43852, complete sequence. GACAGCAGCTCCGAGAAGATG 0.622000 6 10 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 55 103 0 0 1 0 0 ZNF480 147657 broad.mit.edu 37 19 52817523 52817523 + Missense_Mutation SNP G G T TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr19:52817523G>T uc010ydl.2 + 2 260 c.190G>T c.(190-192)Gtc>Ttc p.V64F ZNF480_uc002pyv.3_Intron|ZNF480_uc010ydm.2_Missense_Mutation_p.V64F|ZNF480_uc010epn.3_Intron|AK097759_uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN Homo sapiens zinc finger protein 480 (ZNF480), mRNA. 64 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) CAGGAACCTGGTCTCCCTGGG 0.542000 34 83 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956323 18956323 + Silent SNP T T A TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr11:18956323T>A uc001mpg.3 - 0 227 c.9A>T c.(7-9)ccA>ccT p.P3P NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 3 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity p.P3T(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TTGAGATGGTTGGATCCATGC 0.517000 60 114 0 0 1 0 0 POLR1B 84172 broad.mit.edu 37 2 113332950 113332950 + Nonsense_Mutation SNP C C T TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr2:113332950C>T uc002thw.2 + 14 3632 c.3052C>T c.(3052-3054)Cga>Tga p.R1018* POLR1B_uc010fkn.2_Nonsense_Mutation_p.R962*|POLR1B_uc002thx.2_Nonsense_Mutation_p.R879*|POLR1B_uc010fko.2_Nonsense_Mutation_p.R835*|POLR1B_uc010fkp.2_Nonsense_Mutation_p.R457*|POLR1B_uc002thy.2_Nonsense_Mutation_p.R879*|POLR1B_uc010yxo.1_Nonsense_Mutation_p.R795* NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA. 1018 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 AACTGGAGCCCGAGACAGAGT 0.488000 25 48 0 0 1 0 0 SPRYD4 283377 broad.mit.edu 37 12 56862411 56862411 + Silent SNP C C T TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr12:56862411C>T uc001sli.4 + 0 111 c.36C>T c.(34-36)tgC>tgT p.C12C SPRYD4_uc010sqo.1_Silent_p.C12C NM_207344 NP_997227 Q8WW59 SPRY4_HUMAN Homo sapiens SPRY domain containing 4 (SPRYD4), mRNA. 12 B30.2/SPRY. nucleus kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1) 7 TGCGCTTGTGCCGCTGGGGAG 0.567000 4 112 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-EM-A22Q-01A-11D-A17V-08 TCGA-EM-A22Q-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f3bd45f-1011-49b9-9358-e89134bd9870 f1e73e62-79f2-4bed-8894-cd2e720817c7 g.chr4:146059041A>G uc003ika.4 - 20 2829 c.2691T>C c.(2689-2691)caT>caC p.H897H NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA. 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 3 136 0 0 1 0 0