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 KMT2C 58508 broad.mit.edu 37 7 151970884 151970884 + Nonsense_Mutation SNP A A C TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr7:151970884A>C ENST00000355193.2 - 7 1136 c.918T>G c.(916-918)taT>taG p.Y306* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Y306* lysine (K)-specific methyltransferase 2C AAGGATAATGATACATCTGGG 0.438000 8 143 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 6 138 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198265531 198265531 + Missense_Mutation SNP T T A TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr2:198265531T>A ENST00000335508.5 - 18 2717 c.2626A>T c.(2626-2628)Atg>Ttg p.M876L NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 876 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) AAATTACCCATAATTTTCTCA 0.368000 Mis myelodysplastic syndrome 17 32 0 0 1 0 0 NKIRAS1 28512 broad.mit.edu 37 3 23942418 23942418 + Missense_Mutation SNP T T C TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr3:23942418T>C ENST00000443659.2 - 3 994 c.217A>G c.(217-219)Aag>Gag p.K73E NKIRAS1_ENST00000425478.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.K73E Q9NYS0 KBRS1_HUMAN NFKB inhibitor interacting Ras-like 1 73 Interactions with NFKBIA and NFKBIB. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 7 AAATAATGCTTTGGCAGCTCC 0.408000 6 76 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55356225 55356225 + Missense_Mutation SNP T T C TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr12:55356225T>C ENST00000524622.1 - 7 1704 c.1043A>G c.(1042-1044)gAc>gGc p.D348G TESPA1_ENST00000449076.1_Missense_Mutation_p.D486G|TESPA1_ENST00000316577.8_Missense_Mutation_p.D486G|TESPA1_ENST00000531122.1_Missense_Mutation_p.D348G|TESPA1_ENST00000532804.1_Missense_Mutation_p.D348G NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 486 CTCCTCCAAGTCAAAAGTGTC 0.512000 7 97 0 0 1 0 0 OSGIN1 29948 broad.mit.edu 37 16 83998897 83998897 + Missense_Mutation SNP G G A TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr16:83998897G>A ENST00000343939.2 + 7 1351 c.968G>A c.(967-969)cGc>cAc p.R323H OSGIN1_ENST00000393306.1_Missense_Mutation_p.R240H|OSGIN1_ENST00000361711.3_Missense_Mutation_p.R240H Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 323 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 CTGTGGGCCCGCAACGTGGTC 0.697000 4 55 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195701278 195701278 + RNA SNP C C T TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr3:195701278C>T ENST00000427841.1 - 0 1546 NR_003264.2 CAGGCCTGCACGACTCTGCGA 0.537000 3 19 0 0 1 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 4 58 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42987560 42987560 + Missense_Mutation SNP C C G TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr17:42987560C>G ENST00000435360.2 - 8 1247 c.1240G>C c.(1240-1242)Gtt>Ctt p.V414L GFAP_ENST00000588735.1_Intron|GFAP_ENST00000253408.5_Intron NM_001131019.2|NM_001242376.1 NP_001124491.1|NP_001229305.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 412 Tail. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) ATTGGTATAACTCGTATTGTG 0.493000 36 55 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75265980 75265980 + Missense_Mutation SNP A A G TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr14:75265980A>G ENST00000325680.7 + 5 4104 c.3980A>G c.(3979-3981)gAt>gGt p.D1327G YLPM1_ENST00000238571.3_Missense_Mutation_p.D1132G|YLPM1_ENST00000552421.1_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CGTGAACGGGATATTCCATCT 0.448000 5 70 0 0 1 0 0 ATG12 9140 broad.mit.edu 37 5 115177236 115177236 + Missense_Mutation SNP G G A TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr5:115177236G>A ENST00000509910.1 - 1 319 c.14C>T c.(13-15)cCg>cTg p.P5L ATG12_ENST00000274459.4_Missense_Mutation_p.P52L|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|AP3S1_ENST00000316788.7_5'UTR O94817 ATG12_HUMAN autophagy related 12 5 autophagic vacuole assembly|negative regulation of type I interferon production pre-autophagosomal structure membrane protein binding p.P52L(1) endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05) CACAGACTGCGGCTCCTCCGC 0.607000 9 101 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53654447 53654447 + Missense_Mutation SNP C C T TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chrX:53654447C>T ENST00000342160.3 - 16 1860 c.1403G>A c.(1402-1404)cGa>cAa p.R468Q HUWE1_ENST00000262854.6_Missense_Mutation_p.R468Q|HUWE1_ENST00000218328.8_Missense_Mutation_p.R468Q Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 468 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ACATTCTTTTCGGCACAAATC 0.308000 27 47 0 0 1 0 0 NDUFS1 4719 broad.mit.edu 37 2 207011657 207011657 + Missense_Mutation SNP T T C TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr2:207011657T>C ENST00000233190.5 - 8 973 c.707A>G c.(706-708)tAt>tGt p.Y236C NDUFS1_ENST00000440274.1_Missense_Mutation_p.Y200C|NDUFS1_ENST00000432169.1_Missense_Mutation_p.Y125C|NDUFS1_ENST00000423725.1_Missense_Mutation_p.Y179C|NDUFS1_ENST00000455934.2_Missense_Mutation_p.Y250C|NDUFS1_ENST00000449699.1_Missense_Mutation_p.Y236C|NDUFS1_ENST00000457011.1_Missense_Mutation_p.Y120C NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) 236 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 NADH(DB00157) AGTAAAGGCATAGGGCTTAGA 0.363000 8 63 0 0 1 0 0 TRIB2 28951 broad.mit.edu 37 2 12863616 12863616 + Silent SNP T T C rs114874345 byFrequency TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr2:12863616T>C ENST00000155926.4 + 2 1920 c.501T>C c.(499-501)caT>caC p.H167H TRIB2_ENST00000405331.3_Silent_p.H167H|TRIB2_ENST00000381465.2_Silent_p.H31H NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 167 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCCACTGCCATGACGGGGGGC 0.577000 4 58 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 6 81 0 0 1 0 0 ANKRD53 79998 broad.mit.edu 37 2 71206350 71206350 + Silent SNP G G A TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr2:71206350G>A ENST00000272421.6 + 2 560 c.294G>A c.(292-294)caG>caA p.Q98Q ANKRD53_ENST00000441349.1_Silent_p.Q64Q|ANKRD53_ENST00000457410.1_Silent_p.Q64Q|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000360589.3_Silent_p.Q98Q NM_024933.3 NP_079209.3 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 98 endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 AGTCCGACCAGACGGCAATCG 0.682000 9 66 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542693 14542693 + Silent SNP C C T TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr18:14542693C>T ENST00000358970.5 - 1 452 c.453G>A c.(451-453)aaG>aaA p.K151K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 151 p.K151K(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTCTGGGGACCTTACCCCACC 0.592000 5 111 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661187 22661187 + RNA SNP G G A TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 5 23 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62631011 62631011 + Missense_Mutation SNP C C T TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr20:62631011C>T ENST00000535781.1 + 8 1033 c.922C>T c.(922-924)Cac>Tac p.H308Y ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 308 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GAACCCTCATCACCCGCCAGC 0.567000 7 75 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 11 103 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039406 11039406 + RNA SNP T T C rs8134740 by1000genomes TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr21:11039406T>C ENST00000470054.1 - 0 797 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCATTAGAAATCTGTTTTTCC 0.299000 15 136 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 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 20 29 0 0 1 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800178 74800178 + Missense_Mutation SNP C C T TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr11:74800178C>T ENST00000305159.3 - 1 621 c.581G>A c.(580-582)tGc>tAc p.C194Y NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 GGTGTCAGAGCAGGAGGCCTG 0.567000 8 52 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765449 18765449 + Missense_Mutation SNP T T C TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr2:18765449T>C ENST00000304081.4 - 5 896 c.796A>G c.(796-798)Atc>Gtc p.I266V NT5C1B_ENST00000359846.2_Missense_Mutation_p.I326V|NT5C1B_ENST00000600945.1_Missense_Mutation_p.I326V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.I326V NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TGCTCGTAGATTTTCCTGCCG 0.552000 5 111 0 0 1 0 0 SDC2 6383 broad.mit.edu 37 8 97621772 97621772 + Missense_Mutation SNP C C T TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr8:97621772C>T ENST00000302190.4 + 5 1523 c.602C>T c.(601-603)gCg>gTg p.A201V SDC2_ENST00000519914.1_Missense_Mutation_p.A172V|SDC2_ENST00000522911.1_Missense_Mutation_p.A172V|SDC2_ENST00000518385.1_Missense_Mutation_p.A165V NM_002998.3 NP_002989.2 P34741 SDC2_HUMAN syndecan 2 201 integral to plasma membrane cytoskeletal protein binding|PDZ domain binding breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2) 16 Breast(36;3.41e-05) Sargramostim(DB00020) GAGTTTTATGCGTAAAACTCC 0.363000 3 33 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844969 18844969 + RNA SNP C C G TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr22:18844969C>G ENST00000412938.1 + 0 3219 CTGGAAAGAGCACGGAAATGC 0.577000 5 61 0 0 1 0 0 RP11-608O21.1 0 broad.mit.edu 37 4 19815894 19815895 + RNA INS - - A rs145239076 TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr4:19815894_19815895insA ENST00000511431.1 + 0 288 CTCTGGGCTGTaaaaaaaaaaa 0.416 2 4 --- --- --- --- TRBV7-7 0 broad.mit.edu 37 7 142120168 142120169 + RNA INS - - CA rs57417024 TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr7:142120168_142120169insCA ENST00000390377.1 - 0 49 TGTAGTCATCTcacacacacac 0.426 13 49 --- --- --- --- TRBV6-5 0 broad.mit.edu 37 7 142180819 142180821 + RNA DEL AGG AGG - TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr7:142180819_142180821delAGG ENST00000390368.2 - 0 115 CCTGCAGAGAAGGAGAACAAAGC 0.557 7 85 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 3 4 --- --- --- --- SNORD3A 0 broad.mit.edu 37 17 19091400 19091401 + RNA INS - - C TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr17:19091400_19091401insC ENST00000365494.1 + 0 72_73 tagagcaccgaaaaccacgagg 0.490 7 308 --- --- --- ---