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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PRAMEF11 440560 broad.mit.edu 37 1 12887453 12887453 + Missense_Mutation SNP C T T rs2486714 by1000genomes TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr1:12887453C>T uc001auk.2 - 2 600 c.404G>A c.(403-405)aGa>aAa p.R135K NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 135 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TAGTAAATCTCTCCTCTGCTT 0.463000 11 5 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134146968 134146968 + Missense_Mutation SNP C T T TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr8:134146968C>T uc003ytw.3 + 47 8278 c.8237C>T c.(8236-8238)aCg>aTg p.T2746M TG_uc010mdw.3_Missense_Mutation_p.T1505M|TG_uc011ljb.2_Missense_Mutation_p.T1115M|TG_uc011ljc.2_Missense_Mutation_p.T879M NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 2746 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAGGAGTTGACGGCTGGATCT 0.547000 20 9 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108384832 108384832 + Nonsense_Mutation SNP G A A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr11:108384832G>A uc001pkk.3 - 5 1513 c.1402C>T c.(1402-1404)Cga>Tga p.R468* EXPH5_uc010rvz.2_Nonsense_Mutation_p.R312*|EXPH5_uc010rvy.2_Nonsense_Mutation_p.R280* NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 468 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TCTCCGCTTCGTCCAAAGGTA 0.438000 62 45 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3103971 3103971 + Nonsense_Mutation SNP G A A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr12:3103971G>A uc010sej.2 + 2 331 c.39G>A c.(37-39)tgG>tgA p.W13* TEAD4_uc010sek.2_Nonsense_Mutation_p.W13*|TEAD4_uc001qln.3_Intron NM_201443 NP_958851 Q15561 TEAD4_HUMAN Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA. 13 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CCAACGAGTGGAGCTCTCCCA 0.662000 38 36 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135287507 135287507 + Missense_Mutation SNP C T T TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr6:135287507C>T uc003qez.2 - 16 2210 c.2003G>A c.(2002-2004)cGt>cAt p.R668H HBS1L_uc003qey.2_Missense_Mutation_p.R504H|HBS1L_uc011ecy.1_Missense_Mutation_p.R392H|HBS1L_uc011ecz.1_Missense_Mutation_p.R504H|HBS1L_uc011eda.1_Missense_Mutation_p.R626H NM_006620 NP_006611 Q9Y450 HBS1L_HUMAN Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA. 668 signal transduction GTP binding|GTPase activity|translation elongation factor activity p.R668P(2)|p.R668C(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) ACCACCGTAACGTAGCATGAA 0.378000 34 41 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24723923 24723923 + Missense_Mutation SNP C T T TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr14:24723923C>T uc001wod.3 - 12 2159 c.2035G>A c.(2035-2037)Gtg>Atg p.V679M TGM1_uc010tog.2_Missense_Mutation_p.V237M NM_000359 NP_000350 P22735 TGM1_HUMAN Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA. 679 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) TTGGCCAGCACCTGCCCGCTC 0.617000 42 17 0 0 1 0 0 AFTPH 54812 broad.mit.edu 37 2 64778732 64778732 + Missense_Mutation SNP G A A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr2:64778732G>A uc002sdc.3 + 0 156 c.124G>A c.(124-126)Gta>Ata p.V42I AFTPH_uc002scz.3_Missense_Mutation_p.V42I|AFTPH_uc002sda.3_Missense_Mutation_p.V42I|AFTPH_uc002sdb.3_Missense_Mutation_p.V42I NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA. 42 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 CCCTTCTGGTGTAGGGTTTGT 0.408000 116 5 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57719755 57719755 + Missense_Mutation SNP T G G TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr16:57719755T>G uc002emh.3 + 10 1560 c.1457T>G c.(1456-1458)gTg>gGg p.V486G GPR97_uc010vhv.2_Missense_Mutation_p.V366G|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_Missense_Mutation_p.V94G NM_170776 NP_740746 Q86Y34 GPR97_HUMAN Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA. 486 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TCGAGCCTGGTGGGTGTGACA 0.602000 33 27 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73040894 73040894 + RNA SNP T G G TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chrX:73040894T>G uc004ebn.2 + 0 c.28855T>G XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. AGTTACTTTCTTCTTTCCATT 0.368000 10 21 0 0 1 0 0 AMELX 265 broad.mit.edu 37 X 11316686 11316686 + Missense_Mutation SNP G C C TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chrX:11316686G>C uc004cus.3 + 5 273 c.205G>C c.(205-207)Gag>Cag p.E69Q ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.E55Q|AMELX_uc004cuu.3_Missense_Mutation_p.E39Q NM_182680 NP_872621 Q99217 AMELX_HUMAN Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA. 55 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 CTATGGTTACGAGCCCATGGG 0.547000 53 56 0 0 1 0 0 CYP21A1P 1590 broad.mit.edu 37 6 31974158 31974158 + Missense_Mutation SNP A G G TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr6:31974158A>G uc021yve.1 + 0 800 c.238A>G c.(238-240)Aga>Gga p.R80G CYP21A2_uc021yvd.1_Missense_Mutation_p.K103R Q5ST44 Q5ST44_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA. 0 electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTGGTGTCTAAGAACTACCCG 0.607000 15 3 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114123222 114123222 + Silent SNP C T T rs141978579 byFrequency TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr1:114123222C>T uc001edk.3 + 2 673 c.492C>T c.(490-492)tcC>tcT p.S164S MAGI3_uc001edh.3_Silent_p.S164S|MAGI3_uc001edi.4_Silent_p.S164S|MAGI3_uc010owm.2_Silent_p.S164S NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 164 Guanylate kinase-like. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTTCATTTCCGTTGAACAGT 0.393000 72 9 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886445 57886445 + Silent SNP G A A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr11:57886445G>A uc001nml.1 - 0 472 c.472C>T c.(472-474)Ctg>Ttg p.L158L OR9Q1_uc001nmj.3_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA. 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GTGGTACGCAGGATGGCTCCT 0.547000 20 15 0 0 1 0 0 STAP1 26228 broad.mit.edu 37 4 68424566 68424566 + Silent SNP G A A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr4:68424566G>A uc003hde.4 + 0 121 c.39G>A c.(37-39)agG>agA p.R13R STAP1_uc003hdf.3_Silent_p.R13R NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA. 13 cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 CCCCTCGCAGGATCTTCCAGG 0.428000 42 42 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153583052 153583052 + Nonsense_Mutation SNP G A A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chrX:153583052G>A uc004fkk.2 - 31 5494 c.5245C>T c.(5245-5247)Cag>Tag p.Q1749* FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Nonsense_Mutation_p.Q1741* NM_001110556 NP_001104026 P21333 FLNA_HUMAN Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA. 1749 Hinge 1. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGAGGGGGCTGCACCGAGGGC 0.677000 14 3 0 0 1 0 0 X97876 0 broad.mit.edu 37 9 66500810 66500810 + RNA SNP G A A rs142815546 by1000genomes TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr9:66500810G>A uc004aed.1 + 2 c.903G>A Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA. ACCTACGGTCGGTTGTGTGCA 0.637000 20 5 0 0 1 0 0 NUDT22 84304 broad.mit.edu 37 11 63995065 63995065 + Missense_Mutation SNP A C C TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr11:63995065A>C uc001nyp.4 + 2 686 c.506A>C c.(505-507)cAg>cCg p.Q169P TRPT1_uc010rnc.2_5'Flank|TRPT1_uc010rnd.2_5'Flank|TRPT1_uc001nyo.3_5'Flank|TRPT1_uc010rnf.2_5'Flank|TRPT1_uc010rne.2_5'Flank|TRPT1_uc001nyn.3_5'Flank|NUDT22_uc009ype.3_Missense_Mutation_p.Q169P|NUDT22_uc001nyq.4_Intron|NUDT22_uc010rng.2_Non-coding_Transcript|DNAJC4_uc001nys.3_5'Flank|DNAJC4_uc001nyt.3_5'Flank|DNAJC4_uc001nyu.3_5'Flank NM_032344 NP_115720 Q9BRQ3 NUD22_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 22 (NUDT22), transcript variant 1, mRNA. 169 Nudix hydrolase. hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 GGCAGCCCCCAGCACCAGGAC 0.617000 37 24 0 0 1 0 0 LOC100233156 100233156 broad.mit.edu 37 GL000218.1 40675 40675 + Silent SNP G A A TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chrGL000218.1:40675G>A uc011mfn.2 - 2 344 c.255C>T c.(253-255)gaC>gaT p.D85D LOC100233156_uc003jah.2_Silent_p.D85D Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA. TGTGCCGCACGTCCTCCAGTT 0.662000 9 3 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49735489 49735489 + Silent SNP A G G TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr3:49735489A>G uc003cxh.3 + 6 488 c.402A>G c.(400-402)aaA>aaG p.K134K RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank NM_022064 NP_071347 Q5XPI4 RN123_HUMAN Homo sapiens ring finger protein 123 (RNF123), mRNA. 134 B30.2/SPRY. cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) TTCCAGGGAAATGGCTCTACG 0.582000 55 28 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198267483 198267483 + Missense_Mutation SNP C T T TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr2:198267483C>T uc002uue.3 - 13 1922 c.1874G>A c.(1873-1875)cGt>cAt p.R625H NM_012433 NP_036565 O75533 SF3B1_HUMAN Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA. 625 nuclear mRNA splicing, via spliceosome U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck protein binding p.R625L(21)|p.R625?(9)|p.R625C(9)|p.R625P(4)|p.R625H(3)|p.R625G(1) 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) TGTTGTGTTACGGACATACTC 0.438000 Mis myelodysplastic syndrome 25 22 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135984119 135984119 + Missense_Mutation SNP C T T TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr9:135984119C>T uc004cco.3 - 4 739 c.719G>A c.(718-720)cGt>cAt p.R240H RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.R228H|RALGDS_uc004ccr.3_Missense_Mutation_p.R239H|RALGDS_uc011mcv.2_Missense_Mutation_p.R211H|RALGDS_uc004ccs.3_Missense_Mutation_p.R185H|RALGDS_uc011mcw.2_Missense_Mutation_p.R311H|RALGDS_uc004ccv.1_Missense_Mutation_p.R9H|RALGDS_uc004ccu.1_Missense_Mutation_p.R9H NM_006266 NP_006257 Q12967 GNDS_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA. 240 N-terminal Ras-GEF. Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) AAGGTGGGCACGGCGCTCCAG 0.622000 T CIITA """PMBL, Hodgkin Lymphona, """ 51 3 0 0 1 0 0 GNAQ 2776 broad.mit.edu 37 9 80409488 80409488 + Missense_Mutation SNP T G G rs121913492 TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr9:80409488T>G uc004akw.3 - 4 694 c.626A>C c.(625-627)cAa>cCa p.Q209P GNAQ_uc011lso.2_Missense_Mutation_p.Q7P NM_002072 NP_002063 P50148 GNAQ_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA. 209 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity p.Q209L(208)|p.Q209P(206)|p.Q209R(4)|p.Q209Y(2)|p.Q209H(1)|p.Q209K(1) NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 CTCTGACCTTTGGCCCCCTAC 0.348000 Mis uveal melanoma 20 17 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77472300 77472300 + Frame_Shift_Del DEL T - - TCGA-RP-A690-06A-11D-A30X-08 TCGA-RP-A690-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd4bd518-af5a-4a40-beaa-42f91cdf8e90 c215c258-85e4-4673-963d-7e296b5f2ac9 g.chr15:77472300delT uc021sqy.1 - 4 2545 c.1969delA c.(1969-1971)accfs p.T657fs PEAK1_uc002bcn.2_Frame_Shift_Del_p.T657fs|PEAK1_uc021sqz.1_Frame_Shift_Del_p.T55fs NM_024776 NP_079052 Q9H792 PEAK1_HUMAN Homo sapiens NKF3 kinase family member (PEAK1), mRNA. 657 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ACACTTGTGGTTTTTTCCTTC 0.363 --- 72 --- --- 31 ---