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 VMP1 81671 broad.mit.edu 37 17 57842412 57842412 + Missense_Mutation SNP G G C TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr17:57842412G>C ENST00000262291.4 + 6 805 c.495G>C c.(493-495)caG>caC p.Q165H VMP1_ENST00000545362.1_Intron|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000537567.1_Missense_Mutation_p.Q31H|VMP1_ENST00000536180.1_Missense_Mutation_p.Q68H NM_030938.3 NP_112200.2 Q96GC9 VMP1_HUMAN vacuole membrane protein 1 165 autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 ATCCTGATCAGATTATTTGTC 0.388000 3 65 0 0 0.004672 0 0 EEF1A2 1917 broad.mit.edu 37 20 62120282 62120282 + Missense_Mutation SNP T T G TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr20:62120282T>G ENST00000217182.3 - 7 1418 c.1253A>C c.(1252-1254)tAc>tCc p.Y418S EEF1A2_ENST00000298049.7_Missense_Mutation_p.Y418S NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 418 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity p.Y418S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GAGAGGCGGGTACTGGGAGAA 0.667000 8 20 0 0 0.007413 0 0 ZNF155 7711 broad.mit.edu 37 19 44500960 44500960 + Silent SNP G G A TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr19:44500960G>A ENST00000270014.2 + 5 1079 c.951G>A c.(949-951)agG>agA p.R317R ZNF155_ENST00000590615.1_Silent_p.R317R|ZNF155_ENST00000407951.2_Silent_p.R328R NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 317 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) AACCATTTAGGTGTGATACAT 0.413000 5 104 0 0 0.000602 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 89 0 0 0.004672 0 0 MUC16 94025 broad.mit.edu 37 19 9084433 9084433 + Missense_Mutation SNP G G T TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr19:9084433G>T ENST00000397910.4 - 1 7585 c.7382C>A c.(7381-7383)aCa>aAa p.T2461K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2461 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 GGCCGAGCTTGTCTCGACAGG 0.507000 13 38 4.3838e-07 1.26357e-06 0.001855 1 0 NEK8 284086 broad.mit.edu 37 17 27061954 27061954 + Missense_Mutation SNP C C T TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr17:27061954C>T ENST00000268766.6 + 3 452 c.418C>T c.(418-420)Cgc>Tgc p.R140C AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 140 Protein kinase. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.R140S(1) breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) TGACAAACACCGCATGGTCGT 0.562000 68 114 0 0 0.014410 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 9 0 0 0.004672 0 0 DGCR8 54487 broad.mit.edu 37 22 20079439 20079439 + Missense_Mutation SNP G G A TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr22:20079439G>A ENST00000351989.3 + 7 1981 c.1552G>A c.(1552-1554)Gag>Aag p.E518K DGCR8_ENST00000407755.1_Missense_Mutation_p.E518K|DGCR8_ENST00000383024.2_Missense_Mutation_p.E518K NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 518 DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) CATCCTGCACGAGTACATGCA 0.463000 26 8 0 0 0.005443 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 62 104 0 0 0.014410 0 0 MCF2L2 23101 broad.mit.edu 37 3 183041038 183041038 + Nonsense_Mutation SNP C C T TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr3:183041038C>T ENST00000328913.3 - 6 885 c.588G>A c.(586-588)tgG>tgA p.W196* MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.W196*|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.W196*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.W196* NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 196 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GGTGATTTACCCACTGACCGT 0.502000 4 96 0 0 0.009096 0 0 CXCL13 10563 broad.mit.edu 37 4 78532142 78532142 + Splice_Site SNP A A T TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr4:78532142A>T ENST00000286758.4 + 5 357 c.278_splice c.e5-1 p.K93_splice NM_006419.2 NP_006410.1 O43927 CXL13_HUMAN chemokine (C-X-C motif) ligand 13 93 activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1) 4 TGCTTCACAGAAGAAGTTCTT 0.408000 46 74 0 0 0.011902 0 0 PRB2 653247 broad.mit.edu 37 12 11546273 11546273 + Missense_Mutation SNP G G A TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr12:11546273G>A ENST00000389362.4 - 3 774 c.739C>T c.(739-741)Cca>Tca p.P247S PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CCTCCTTGTGGGGGTGGTCCT 0.617000 110 174 0 0 0.014410 0 0 TMEM37 140738 broad.mit.edu 37 2 120194901 120194901 + Missense_Mutation SNP T T C TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr2:120194901T>C ENST00000306406.4 + 2 493 c.458T>C c.(457-459)gTc>gCc p.V153A TMEM37_ENST00000409826.1_Missense_Mutation_p.V165A|TMEM37_ENST00000465296.1_3'UTR NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 153 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 AGGAACCAAGTCACACTCATC 0.552000 7 363 0 0 0.004482 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351126 40351126 + Missense_Mutation SNP T T C TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr4:40351126T>C ENST00000310169.2 + 4 732 c.593T>C c.(592-594)aTt>aCt p.I198T NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 198 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TCTGACTTCATTGAAGATGTG 0.517000 6 191 0 0 0.001168 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551539 1551539 + Silent SNP C C T TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr20:1551539C>T ENST00000381605.4 - 4 1060 c.996G>A c.(994-996)gtG>gtA p.V332V SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 332 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CATCATGCTCCACCTGACAGG 0.562000 55 96 0 0 0.014410 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291129 141291129 + Silent SNP G G A TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chrX:141291129G>A ENST00000247452.3 - 3 992 c.645C>T c.(643-645)acC>acT p.T215T NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 215 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TACCCTCATCGGTGAGGCCTA 0.507000 HNSCC(46;0.14) 84 133 0 0 0.014410 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 4 306 0 0 0.001168 0 0 SLC13A5 284111 broad.mit.edu 37 17 6607201 6607201 + Silent SNP C C A TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr17:6607201C>A ENST00000433363.2 - 4 776 c.543G>T c.(541-543)ctG>ctT p.L181L SLC13A5_ENST00000573648.1_Silent_p.L181L|SLC13A5_ENST00000293800.6_Silent_p.L164L|SLC13A5_ENST00000381074.4_Silent_p.L138L NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 181 integral to membrane citrate transmembrane transporter activity p.L181L(3) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 GCTCACCTGGCAGCTCCTTGG 0.642000 9 48 7.48243e-07 2.09508e-06 0.006214 1 0 PCDHB7 0 broad.mit.edu 37 5 140553676 140553676 + Silent SNP C C T TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr5:140553676C>T ENST00000231137.3 + 1 1434 c.1260C>T c.(1258-1260)acC>acT p.T420T NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 420 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACATCACCATCACCGTCA 0.512000 5 177 0 0 0.001168 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 5 39 0 0 0.000602 0 0 PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 6 3 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 7 86 --- --- --- --- CTD-2547E10.2 0 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 3 6 --- --- --- --- RAB37 326624 broad.mit.edu 37 17 72725494 72725494 + Frame_Shift_Del DEL A A - TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr17:72725494delA ENST00000340415.3 + 2 1181 c.172delA c.(172-174)tcfs p.I58fs RAB37_ENST00000402449.4_Frame_Shift_Del_p.I58fs NM_175738.4 NP_783865.1 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 65 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 CACTGTGGGCATCGGATTCAC 0.607 60 100 --- --- --- ---