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 BRCA2 675 broad.mit.edu 37 13 32913950 32913950 + Missense_Mutation SNP T T C TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr13:32913950T>C uc001uub.1 + 10 5685 c.5458T>C c.(5458-5460)Tgc>Cgc p.C1820R NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 1820 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CTCTTCACCCTGCAAAAATAA 0.353000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 3 95 0 0 1 0 0 SOX12 6666 broad.mit.edu 37 20 306862 306862 + Silent SNP C C T TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr20:306862C>T uc002wdh.3 + 0 624 c.294C>T c.(292-294)ctC>ctT p.L98L NM_006943 NP_008874 O15370 SOX12_HUMAN Homo sapiens SRY (sex determining region Y)-box 12 (SOX12), mRNA. 98 cell fate commitment|spinal cord development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) GGCTGCGGCTCAAGCACATGG 0.701000 3 13 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96051588 96051588 + Missense_Mutation SNP C C G rs35091400 TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr9:96051588C>G uc004ati.1 + 19 4663 c.4663C>G c.(4663-4665)Ccc>Gcc p.P1555A WNK2_uc011lud.1_Missense_Mutation_p.P1518A|WNK2_uc004atj.3_Missense_Mutation_p.P1518A|WNK2_uc004atk.3_Missense_Mutation_p.P1155A|WNK2_uc004atl.1_Missense_Mutation_p.P113A NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1555 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCCAAGCCCACCCCTGGGGCC 0.721000 6 14 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285608 152285608 + Missense_Mutation SNP C C T TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr1:152285608C>T uc001ezu.1 - 2 1790 c.1754G>A c.(1753-1755)gGg>gAg p.G585E AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 585 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGACGTGACCCTGAGTGCCT 0.562000 Ichthyosis 26 356 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 113005568 113005568 + Missense_Mutation SNP T T G TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr3:113005568T>G uc003dzz.3 + 19 3546 c.3207T>G c.(3205-3207)agT>agG p.S1069R BOC_uc003dzx.3_Missense_Mutation_p.S1068R|BOC_uc003dzy.3_Missense_Mutation_p.S1068R|BOC_uc003eab.3_Missense_Mutation_p.S769R|BOC_uc003eac.3_Missense_Mutation_p.S383R NM_033254 NP_150279 Q9BWV1 BOC_HUMAN Homo sapiens Boc homolog (mouse) (BOC), mRNA. 1068 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) AGGTGGACAGTCCTGACTCCT 0.597000 4 303 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178418557 178418557 + Missense_Mutation SNP C C G TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr5:178418557C>G uc003mjr.3 - 2 904 c.725G>C c.(724-726)gGg>gCg p.G242A GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 242 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AATACAGACCCCCCCTGGGCG 0.627000 46 138 0 0 1 0 0 PYGO1 26108 broad.mit.edu 37 15 55839051 55839051 + Missense_Mutation SNP G G A TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr15:55839051G>A uc010bfl.1 - 2 486 c.430C>T c.(430-432)Cat>Tat p.H144Y PYGO1_uc002adf.1_Missense_Mutation_p.H144Y NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA. 144 Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) TTAAAAGCATGAGGTCGATTA 0.423000 30 52 0 0 1 0 0 SLC7A11 23657 broad.mit.edu 37 4 139157528 139157528 + Missense_Mutation SNP C C A TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr4:139157528C>A uc021xrw.1 - 1 635 c.355G>T c.(355-357)Ggt>Tgt p.G119C NM_014331 NP_055146 Q9UPY5 XCT_HUMAN Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA. 119 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) GGTAATGGACCAAAGACTTCC 0.338000 20 49 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 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 26 34 0 0 1 0 0 KLC2 64837 broad.mit.edu 37 11 66033332 66033332 + Missense_Mutation SNP A A G TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr11:66033332A>G uc010rov.1 + 12 1694 c.1451A>G c.(1450-1452)gAc>gGc p.D484G KLC2_uc010row.1_Missense_Mutation_p.D484G|KLC2_uc001ohb.2_Missense_Mutation_p.D484G|KLC2_uc010rox.1_Missense_Mutation_p.D407G|KLC2_uc001ohc.2_Missense_Mutation_p.D484G|KLC2_uc001ohd.2_Missense_Mutation_p.D407G|KLC2_uc001ohe.1_Missense_Mutation_p.D345G|RAB1B_uc001ohf.3_5'Flank NM_001134775 NP_073733 Q9H0B6 KLC2_HUMAN Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA. 484 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 CAGGGTTTGGACCCCGCAAGC 0.672000 3 66 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9546574 9546574 + Missense_Mutation SNP C C T TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr20:9546574C>T uc002wnl.2 - 5 1993 c.1448G>A c.(1447-1449)cGg>cAg p.R483Q PAK7_uc002wnk.2_Missense_Mutation_p.R483Q|PAK7_uc002wnj.2_Missense_Mutation_p.R483Q|PAK7_uc010gby.1_Missense_Mutation_p.R483Q NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 483 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity p.R483Q(4) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CTGTTGCTTCCGGAGGTCCAT 0.438000 26 170 0 0 1 0 0 FABP3 2170 broad.mit.edu 37 1 31845844 31845844 + Silent SNP C C A TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr1:31845844C>A uc001bss.1 - 0 80 c.18G>T c.(16-18)ctG>ctT p.L6L NM_004102 NP_004093 P05413 FABPH_HUMAN Homo sapiens fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) (FABP3), mRNA. 6 negative regulation of cell proliferation p.L6R(1) large_intestine(1)|lung(2)|ovary(2) 5 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149) TCCAGGTGCCCAGGAAAGCGT 0.612000 4 50 0 0 1 0 0 IL17REL 400935 broad.mit.edu 37 22 50436469 50436469 + Silent SNP G G A TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr22:50436469G>A uc003bje.1 - 10 1036 c.804C>T c.(802-804)ccC>ccT p.P268P NM_001001694 NP_001001694 Q6ZVW7 I17EL_HUMAN Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA. 268 endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GGCAGAGCTGGGGCTGGGTGT 0.692000 14 52 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186578641 186578641 + Silent SNP T T C TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr4:186578641T>C uc003iyg.3 - 4 494 c.462A>G c.(460-462)aaA>aaG p.K154K SORBS2_uc003iyh.3_Silent_p.K247K|SORBS2_uc011ckw.2_Silent_p.K137K|SORBS2_uc003iyi.3_Silent_p.K154K|SORBS2_uc011ckx.2_Silent_p.K114K|SORBS2_uc003iyk.3_Silent_p.K154K|SORBS2_uc003iym.3_Silent_p.K168K|SORBS2_uc003iyl.3_Silent_p.K68K|SORBS2_uc003iyn.1_Silent_p.K114K|SORBS2_uc011cky.1_Silent_p.K131K|SORBS2_uc011cku.2_5'Flank|SORBS2_uc011ckv.2_5'Flank|SORBS2_uc003iyd.3_Silent_p.K247K|SORBS2_uc003iye.3_Silent_p.K68K|SORBS2_uc003iya.3_Silent_p.K68K|SORBS2_uc003iyb.3_Silent_p.K68K|SORBS2_uc003iyc.3_Silent_p.K68K|SORBS2_uc003iyf.3_Silent_p.K131K|SORBS2_uc003iyo.1_5'Flank NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 68 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AATGCGGGGCTTTGATGACTG 0.567000 7 43 0 0 1 0 0 APOBEC2 10930 broad.mit.edu 37 6 41029581 41029583 + In_Frame_Del DEL GAG GAG - rs150558136 TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr6:41029581_41029583delGAG uc003opl.3 + 1 793_795 c.646_648delGAG c.(646-648)gagdel p.E217del UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript NM_006789 NP_006780 Q9Y235 ABEC2_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA. 217 DNA demethylation|mRNA processing RNA binding|cytidine deaminase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTATACTACGAGGAGAAGTTGG 0.483 34 64 --- --- --- --- CUEDC1 404093 broad.mit.edu 37 17 55962647 55962647 + Frame_Shift_Del DEL G G - TCGA-EM-A2P3-01A-11D-A202-08 TCGA-EM-A2P3-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3b36fbc-ae06-445b-b6cf-b08062727c76 03c8a3c1-879d-400d-919d-379b3af0a8c2 g.chr17:55962647delG uc002ivd.1 - 1 998 c.279delC c.(277-279)ggcfs p.G93fs CUEDC1_uc002ive.1_Frame_Shift_Del_p.G93fs NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN Homo sapiens CUE domain containing 1 (CUEDC1), mRNA. 93 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 CGCCGCTGCTGCCACCGCCCT 0.642 40 71 --- --- --- ---