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 RALGPS2 55103 broad.mit.edu 37 1 178846740 178846740 + Missense_Mutation SNP A A G TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr1:178846740A>G ENST00000367635.3 + 9 1053 c.715A>G c.(715-717)Att>Gtt p.I239V RALGPS2_ENST00000367634.2_Missense_Mutation_p.I239V|RALGPS2_ENST00000324778.4_Missense_Mutation_p.I204V|RALGPS2_ENST00000477383.1_3'UTR NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 239 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 CCTTCGAATAATTTCTGATTT 0.338000 9 35 0 0 0.307466 0 0 CCDC88A 55704 broad.mit.edu 37 2 55522862 55522862 + Missense_Mutation SNP C C T rs138449414 TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr2:55522862C>T ENST00000436346.1 - 31 6263 c.5422G>A c.(5422-5424)Gtg>Atg p.V1808M CCDC88A_ENST00000413716.2_Splice_Site_p.V1733_splice|CCDC88A_ENST00000336838.6_Missense_Mutation_p.V1807M|CCDC88A_ENST00000263630.8_Missense_Mutation_p.V1780M|CCDC88A_ENST00000422883.2_Missense_Mutation_p.V309M NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1808 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 GTTGAGATCACGCTGCTTGCA 0.423000 27 89 0 0 0.681144 0 0 ABCA4 24 broad.mit.edu 37 1 94512588 94512588 + Silent SNP T T C TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr1:94512588T>C ENST00000370225.3 - 19 2891 c.2805A>G c.(2803-2805)gtA>gtG p.V935V ABCA4_ENST00000535735.1_Silent_p.V861V NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 935 ABC transporter 1. V -> A (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CAAAAATCTTTACCAGATTCT 0.498000 49 175 0 0 0.870114 0 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403554 143403554 + RNA SNP T T G TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr1:143403554T>G ENST00000423249.1 - 0 59 GGAACAGGATTTCTTTGGCCA 0.468000 3 17 0 0 0.150653 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 33 0 0 0.184627 0 0 TBK1 29110 broad.mit.edu 37 12 64891007 64891007 + Missense_Mutation SNP G G A TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr12:64891007G>A ENST00000331710.5 + 18 2266 c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K NM_013254.3 NP_037386.1 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 643 I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1) 20 GBM - Glioblastoma multiforme(28;0.0386) TATTGAAGAAGAAGTATCAAA 0.308000 7 113 0 0 0.248553 0 0 TAS2R39 259285 broad.mit.edu 37 7 142881419 142881419 + Missense_Mutation SNP A A C TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr7:142881419A>C ENST00000446620.1 + 1 908 c.908A>C c.(907-909)tAc>tCc p.Y303S NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 303 sensory perception of taste integral to membrane G-protein coupled receptor activity p.Y303S(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) ATGGCTGCCTACCCTGCCAGC 0.458000 8 40 0 0 0.520397 0 0 DDX56 54606 broad.mit.edu 37 7 44607781 44607781 + Silent SNP C C T TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr7:44607781C>T ENST00000258772.5 - 12 1531 c.1425G>A c.(1423-1425)cgG>cgA p.R475R DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.R435R NM_001257189.1|NM_019082.3 NP_001244118.1|NP_061955.1 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 56 475 rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 GTAGGTCATGCCGCAGCAGCT 0.592000 3 39 0 0 0.115264 0 0 PRRG1 5638 broad.mit.edu 37 X 37312552 37312552 + Missense_Mutation SNP G G A TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chrX:37312552G>A ENST00000542554.1 + 5 607 c.335G>A c.(334-336)aGa>aAa p.R112K PRRG1_ENST00000378628.4_Missense_Mutation_p.R112K|PRRG1_ENST00000449135.2_Missense_Mutation_p.R112K|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Missense_Mutation_p.R112K NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 112 extracellular region|integral to plasma membrane calcium ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 AAAACTCGTAGACAGACAGTG 0.438000 23 41 0 0 0.624587 0 0 AQP4 361 broad.mit.edu 37 18 24445624 24445624 + Nonsense_Mutation SNP C C T TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr18:24445624C>T ENST00000383168.4 - 1 158 c.30G>A c.(28-30)tgG>tgA p.W10* AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 10 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) GGACTTACCCCCACCGCCTTG 0.522000 35 115 0 0 0.788014 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974753 21974753 + Missense_Mutation SNP A A C TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr9:21974753A>C ENST00000304494.5 - 1 344 c.74T>G c.(73-75)gTa>gGa p.V25G CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.V25G|CDKN2A_ENST00000579122.1_Missense_Mutation_p.V25G|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V25G|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 25 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CACCTCCTCTACCCGACCCCG 0.736000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 11 33 0 0 0.435327 0 0 TIE1 7075 broad.mit.edu 37 1 43770796 43770796 + Silent SNP G G A TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr1:43770796G>A ENST00000372476.3 + 2 412 c.333G>A c.(331-333)gcG>gcA p.A111A TIE1_ENST00000538015.1_Silent_p.A111A|TIE1_ENST00000441333.2_Silent_p.A111A NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 111 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTGCTGGGGCGCGGCGCACGC 0.697000 8 24 0 0 0.278610 0 0 ATG2A 23130 broad.mit.edu 37 11 64679415 64679415 + Missense_Mutation SNP G G A TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr11:64679415G>A ENST00000421419.2 - 9 1241 c.1127C>T c.(1126-1128)gCc>gTc p.A376V ATG2A_ENST00000377264.3_Missense_Mutation_p.A376V Q2TAZ0 ATG2A_HUMAN autophagy related 2A 376 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GAGGGCTGAGGCCACACTGCT 0.652000 7 24 0 0 0.248553 0 0 MUC16 94025 broad.mit.edu 37 19 9090520 9090520 + Missense_Mutation SNP G G T TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr19:9090520G>T ENST00000397910.4 - 1 1498 c.1295C>A c.(1294-1296)aCt>aAt p.T432N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 432 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 TGTATTCAAAGTTCCTTCTGT 0.488000 20 67 3.51602e-12 3.70107e-12 0.575678 1 0 C1orf141 400757 broad.mit.edu 37 1 67592860 67592860 + Missense_Mutation SNP T T C TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr1:67592860T>C ENST00000371007.2 - 3 173 c.64A>G c.(64-66)Aga>Gga p.R22G C1orf141_ENST00000371006.1_Missense_Mutation_p.R22G|C1orf141_ENST00000544837.1_Missense_Mutation_p.R22G NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 22 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 TTTGTTCTTCTGGCCAAGATT 0.313000 21 84 0 0 0.639603 0 0 HIST1H2BF 8343 broad.mit.edu 37 6 26199951 26199951 + Silent SNP C C T TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr6:26199951C>T ENST00000359985.1 + 1 204 c.165C>T c.(163-165)atC>atT p.I55I NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 55 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) ACACCGGCATCTCATCCAAGG 0.567000 57 225 0 0 0.870114 0 0 ZNF185 7739 broad.mit.edu 37 X 152139069 152139069 + Missense_Mutation SNP A A T TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chrX:152139069A>T ENST00000535861.1 + 23 2198 c.2150A>T c.(2149-2151)tAt>tTt p.Y717F ZNF185_ENST00000318504.7_Missense_Mutation_p.Y626F|ZNF185_ENST00000370268.4_Missense_Mutation_p.Y685F|ZNF185_ENST00000539731.1_Missense_Mutation_p.Y688F|ZNF185_ENST00000318529.8_Missense_Mutation_p.Y464F|ZNF185_ENST00000324823.6_Missense_Mutation_p.Y453F|ZNF185_ENST00000370270.1_Missense_Mutation_p.Y448F|ZNF185_ENST00000449285.2_Missense_Mutation_p.Y686F NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 685 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) GGGAAATGCTATGAGAAGCTC 0.498000 4 41 0 0 0.184627 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a 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 12 248 0 0 0.457914 0 0 RRN3P1 0 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 4 15 0 0 0.248553 0 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr12:57485446T>C ENST00000300131.3 + 2 1000 c.622T>C c.(622-624)Ttc>Ctc p.F208L NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.F208L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTCGCCCCCCTTCTCCCCCCC 0.716000 7 24 0 0 0.457914 0 0 IL17D 53342 broad.mit.edu 37 13 21296003 21296003 + Silent SNP G G A TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr13:21296003G>A ENST00000304920.3 + 3 627 c.519G>A c.(517-519)ccG>ccA p.P173P NM_138284.1 NP_612141.1 Q8TAD2 IL17D_HUMAN interleukin 17D 173 inflammatory response extracellular space cytokine activity endometrium(1)|skin(1) 2 all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414) TCCCCGAGCCGGAGAAGGACG 0.716000 4 79 0 0 0.150653 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 73 0 0 0.184627 0 0 USP48 84196 broad.mit.edu 37 1 22033083 22033083 + Splice_Site SNP C C G TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr1:22033083C>G ENST00000308271.9 - 17 2737 c.e17-1 USP48_ENST00000400301.1_Splice_Site|USP48_ENST00000374732.3_Splice_Site|USP48_ENST00000529637.1_Splice_Site NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) TTTCTAAAATCTGAAAGAGAA 0.438000 31 76 0 0 0.760397 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a 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 18 64 0 0 0.557998 0 0 GOLGA2B 0 broad.mit.edu 37 12 100562920 100562921 + RNA INS - - T rs58822438 TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr12:100562920_100562921insT ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 GGTCTCATTTGTTTTttttttt 0.406 2 4 --- --- --- --- CEACAM20 125931 broad.mit.edu 37 19 45017504 45017506 + RNA DEL TTT TTT - rs71171252 TCGA-EM-A22P-01A-11D-A19J-08 TCGA-EM-A22P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22a4f3dc-258f-4c03-965a-c82d3eb24a1d 10806bd5-17f1-4c9d-88c5-b9be87731c0a g.chr19:45017504_45017506delTTT ENST00000454753.1 - 0 1588 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ttggttttgcttttttttttttt 0.458 2 4 --- --- --- ---