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 RPL23 9349 broad.mit.edu 37 17 37009327 37009327 + Silent SNP C C G TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr17:37009327C>G uc002hqx.1 - 1 135 c.45G>C c.(43-45)cgG>cgC p.R15R RPL23_uc002hqy.1_Silent_p.R15R|SNORA21_uc002hqz.1_5'Flank NM_000978 NP_000969 P62829 RL23_HUMAN Homo sapiens ribosomal protein L23 (RPL23), mRNA. 15 endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome endometrium(2)|large_intestine(1) 3 CCAAGGAAATCCGGAATTTCG 0.478000 9 38 0 0 1 0 0 DCUN1D4 23142 broad.mit.edu 37 4 52777312 52777312 + Missense_Mutation SNP T T C TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr4:52777312T>C uc011bzo.2 + 8 831 c.824T>C c.(823-825)cTt>cCt p.L275P DCUN1D4_uc003gze.3_Missense_Mutation_p.L231P|DCUN1D4_uc003gzf.3_Intron|DCUN1D4_uc011bzn.2_Missense_Mutation_p.L171P|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Intron NM_001040402 NP_001035492 Q92564 DCNL4_HUMAN Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA. 231 DCUN1. endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 9 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) ATCTGGCCCCTTTTTCCAGTT 0.383000 3 94 0 0 1 0 0 ALOX12 239 broad.mit.edu 37 17 6902319 6902319 + Nonsense_Mutation SNP G G A TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr17:6902319G>A uc002gdx.4 + 4 643 c.590G>A c.(589-591)tGg>tAg p.W197* LOC100506713_uc021tou.1_Intron NM_000697 NP_000688 P18054 LOX12_HUMAN Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA. 197 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 CTGAGCTCCTGGAACTGCCTA 0.552000 4 152 0 0 1 0 0 RSPRY1 89970 broad.mit.edu 37 16 57238772 57238772 + Missense_Mutation SNP G G A TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr16:57238772G>A uc002elb.3 + 1 480 c.202G>A c.(202-204)Gta>Ata p.V68I RSPRY1_uc002elc.3_Missense_Mutation_p.V68I|RSPRY1_uc002eld.3_Missense_Mutation_p.V68I|RSPRY1_uc002ele.1_Missense_Mutation_p.V68I NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA. 68 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 GAACAGTGCAGTACCCACTGC 0.547000 5 112 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057556 9057556 + Missense_Mutation SNP C C T TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr19:9057556C>T uc002mkp.3 - 2 30094 c.29890G>A c.(29890-29892)Ggg>Agg p.G9964R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9966 Ser-rich.|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 GCTGTAGCCCCAGGAGAACTT 0.483000 15 305 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117686282 117686282 + Missense_Mutation SNP G G T TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr6:117686282G>T uc003pxp.1 - 19 3258 c.3059C>A c.(3058-3060)cCt>cAt p.P1020H ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 1020 Fibronectin type-III 4. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTAGGTATAAGGAGTGACAGA 0.393000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 21 41 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 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 40 63 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47839953 47839953 + Missense_Mutation SNP G G C TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr4:47839953G>C uc003gxm.3 - 0 107 c.14C>G c.(13-15)cCt>cGt p.P5R CORIN_uc011bzg.2_Missense_Mutation_p.P5R|CORIN_uc011bzh.1_Missense_Mutation_p.P5R|CORIN_uc011bzi.1_Missense_Mutation_p.P5R|CORIN_uc003gxn.4_Missense_Mutation_p.P5R NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN Homo sapiens corin, serine peptidase (CORIN), mRNA. 5 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 AGCGAGGGCAGGAGACTGTTT 0.557000 13 161 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101870709 101870709 + Nonsense_Mutation SNP G G T TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr7:101870709G>T uc003uys.4 + 20 3353 c.3226G>T c.(3226-3228)Gag>Tag p.E1076* CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Nonsense_Mutation_p.E1065* NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 1065 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GAGTTCCAGTGAGTCGGTGAA 0.597000 33 205 0 0 1 0 0 PARP9 83666 broad.mit.edu 37 3 122259432 122259432 + Missense_Mutation SNP A A G rs143155766 byFrequency TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr3:122259432A>G uc010hri.3 - 7 1902 c.1757T>C c.(1756-1758)aTt>aCt p.I586T PARP9_uc003eff.4_Missense_Mutation_p.I551T|PARP9_uc011bjs.2_Missense_Mutation_p.I551T|PARP9_uc003efg.3_Missense_Mutation_p.I131T|PARP9_uc003efi.3_Missense_Mutation_p.I551T|PARP9_uc003efh.3_Missense_Mutation_p.I586T|PARP9_uc003efj.2_Missense_Mutation_p.I551T NM_001146102 NP_113646 Q8IXQ6 PARP9_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA. 586 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) GGCTCCTTCAATCTCTAACTC 0.443000 12 23 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67316145 67316145 + Silent SNP G G A TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr16:67316145G>A uc002eso.4 + 7 3681 c.1146G>A c.(1144-1146)caG>caA p.Q382Q PLEKHG4_uc002esp.4_Silent_p.Q189Q|PLEKHG4_uc002esq.4_Silent_p.Q382Q|PLEKHG4_uc010cef.3_Silent_p.Q382Q|PLEKHG4_uc002ess.4_Silent_p.Q382Q|PLEKHG4_uc010ceg.3_Silent_p.Q301Q NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 1, mRNA. 382 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TCCTGATGCAGCAGGTGCTAG 0.612000 3 90 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40319135 40319135 + Silent SNP G G A TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr19:40319135G>A uc002omj.3 - 5 889 c.609C>T c.(607-609)aaC>aaT p.N203N DYRK1B_uc002omi.3_Silent_p.N203N|DYRK1B_uc002omk.3_Silent_p.N203N NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA. 203 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GGAAGTGGGTGTTGCGCAGGA 0.612000 3 30 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113098181 113098181 + Missense_Mutation SNP G G A TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr3:113098181G>A uc003ead.2 - 16 2337 c.2270C>T c.(2269-2271)tCa>tTa p.S757L WDR52_uc003eae.2_Missense_Mutation_p.S757L NM_001164496 NP_001157968 Q96MT7 WDR52_HUMAN Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA. 757 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 CCCTGGCTCTGAGTAAAATCC 0.388000 14 41 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87964746 87964746 + Missense_Mutation SNP G G T TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr6:87964746G>T uc003plm.4 + 7 1440 c.1399G>T c.(1399-1401)Gtg>Ttg p.V467L NM_015021 NP_055836 O60281 ZN292_HUMAN Homo sapiens zinc finger protein 292 (ZNF292), mRNA. 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AGCATCCATTGTGTCTTCAAT 0.378000 20 42 0 0 1 0 0 ZNF510 22869 broad.mit.edu 37 9 99537117 99537117 + Missense_Mutation SNP G G A rs148190358 by1000genomes TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr9:99537117G>A uc004awn.1 - 2 271 c.82C>T c.(82-84)Cgg>Tgg p.R28W ZNF510_uc004awo.1_Missense_Mutation_p.R28W NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN Homo sapiens zinc finger protein 510 (ZNF510), mRNA. 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) GTGGAGAACCGTAAAGGATAA 0.458000 3 70 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90001231 90001231 + Missense_Mutation SNP G G A TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr5:90001231G>A uc003kju.3 + 36 8497 c.8401G>A c.(8401-8403)Gga>Aga p.G2801R GPR98_uc003kjt.3_Missense_Mutation_p.G507R|GPR98_uc003kjv.3_Missense_Mutation_p.G401R NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2801 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCCACCAGCCGGAATCGCCCT 0.428000 7 197 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999778 46999778 + Missense_Mutation SNP G G A rs147795605 TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr10:46999778G>A uc001jec.3 + 2 1033 c.898G>A c.(898-900)Gct>Act p.A300T GPRIN2_uc021ppt.1_Missense_Mutation_p.A300T NM_014696 NP_055511 O60269 GRIN2_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA. 300 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 TTGGGGTCCCGCTGGGTTAGT 0.617000 22 76 0 0 1 0 0 DNM1 1759 broad.mit.edu 37 9 130984562 130984562 + Silent SNP G G A TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr9:130984562G>A uc022bob.1 + 6 1023 c.936G>A c.(934-936)gaG>gaA p.E312E DNM1_uc022bnx.1_Silent_p.E312E|DNM1_uc022bny.1_Silent_p.E312E|DNM1_uc022bnz.1_Silent_p.E312E|DNM1_uc022boa.1_Silent_p.E312E NM_004408 NP_004399 Q05193 DYN1_HUMAN Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA. 312 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 AGGAGGTGGAGGAATACAAGA 0.612000 3 80 0 0 1 0 0 FH 2271 broad.mit.edu 37 1 241665851 241665851 + Missense_Mutation SNP C C A TCGA-EL-A3T1-01A-11D-A22D-08 TCGA-EL-A3T1-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3 6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63 g.chr1:241665851C>A uc001hyx.3 - 7 1191 c.1128G>T c.(1126-1128)caG>caT p.Q376H NM_000143 NP_000134 P07954 FUMH_HUMAN Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein, mRNA. 376 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) TTGCTTCACACTGAGTAGGGT 0.408000 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 31 57 0 0 1 0 0