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 CSGALNACT2 55454 broad.mit.edu 37 10 43654323 43654323 + Silent SNP C C A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr10:43654323C>A uc001jan.3 + 2 1157 c.822C>A c.(820-822)atC>atA p.I274I CSGALNACT2_uc001jam.1_Silent_p.I274I NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA. 274 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TTATTAATATCATTGTGCCAC 0.378000 3 57 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50734133 50734133 + Missense_Mutation SNP C C T TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr18:50734133C>T uc002lfe.2 + 10 2423 c.1807C>T c.(1807-1809)Cgc>Tgc p.R603C DCC_uc010xdr.1_Missense_Mutation_p.R451C|DCC_uc010dpf.2_Missense_Mutation_p.R258C NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 603 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.R603C(2) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCTTATAATCGCTATGGTCC 0.353000 39 78 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167891808 167891808 + Silent SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr5:167891808G>A uc011den.2 + 20 3102 c.3009G>A c.(3007-3009)gcG>gcA p.A1003A WWC1_uc003lzv.3_Silent_p.A1003A|WWC1_uc003lzu.3_Silent_p.A997A|WWC1_uc003lzw.3_Silent_p.A796A|WWC1_uc010jjf.1_Silent_p.A269A NM_001161661 NP_001155133 Q8IX03 KIBRA_HUMAN Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 1, mRNA. 997 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ACCTGCAGGCGACAAGAACCT 0.612000 22 41 0 0 1 0 0 TCP11L1 55346 broad.mit.edu 37 11 33087532 33087532 + Missense_Mutation SNP A A G TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr11:33087532A>G uc001mud.3 + 7 1529 c.1129A>G c.(1129-1131)Att>Gtt p.I377V TCP11L1_uc009yju.3_Missense_Mutation_p.I192V|TCP11L1_uc010rei.2_Missense_Mutation_p.I377V|TCP11L1_uc001mue.3_Missense_Mutation_p.I377V|TCP11L1_uc001muf.1_Non-coding_Transcript NM_018393 NP_060863 Q9NUJ3 T11L1_HUMAN Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA. 377 kidney(1)|liver(2)|lung(2)|skin(1) 6 GATTGTGAAGATTTTGCTAAC 0.542000 OREG0020866 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 143 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76128981 76128981 + Silent SNP C C T TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr5:76128981C>T uc003keo.3 + 1 724 c.549C>T c.(547-549)caC>caT p.H183H NM_005242 NP_005233 P55085 PAR2_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA. 183 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) CCATGGGGCACTCCAGGAAGA 0.488000 7 141 0 0 1 0 0 PGAP3 93210 broad.mit.edu 37 17 37842227 37842227 + Missense_Mutation SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr17:37842227G>A uc002hsj.3 - 1 270 c.227C>T c.(226-228)aCc>aTc p.T76I ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010cvy.3_5'Flank|PGAP3_uc010wej.2_Missense_Mutation_p.T76I|PGAP3_uc002hsk.3_Missense_Mutation_p.T76I|PGAP3_uc010cvz.3_Missense_Mutation_p.T76I|ERBB2_uc002hsl.3_5'Flank NM_033419 NP_219487 Q96FM1 PGAP3_HUMAN Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA. 76 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 GAGCCCAACGGTGACCCACAT 0.537000 3 57 0 0 1 0 0 GPN1 11321 broad.mit.edu 37 2 27861816 27861816 + Missense_Mutation SNP C C A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr2:27861816C>A uc010ymc.2 + 8 698 c.677C>A c.(676-678)gCc>gAc p.A226D GPN1_uc010ezf.3_Missense_Mutation_p.A200D|GPN1_uc010yma.2_Missense_Mutation_p.A133D|GPN1_uc010ymb.2_Missense_Mutation_p.A117D|GPN1_uc010ymd.2_Missense_Mutation_p.A107D|GPN1_uc010ezg.1_Missense_Mutation_p.A107D NM_007266 NP_001138520 Q9HCN4 GPN1_HUMAN Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA. 212 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|large_intestine(1)|lung(12) 14 TTCCAAGATGCCTTGAATCAA 0.443000 5 67 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97202876 97202876 + Missense_Mutation SNP A A T TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr3:97202876A>T uc010how.1 + 9 2216 c.2173A>T c.(2173-2175)Att>Ttt p.I725F EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.I91F|EPHA6_uc003drs.4_Missense_Mutation_p.I117F|EPHA6_uc003drr.4_Missense_Mutation_p.I117F|EPHA6_uc003drt.3_Missense_Mutation_p.I117F|EPHA6_uc010hox.1_Non-coding_Transcript NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 630 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TCCCTCAAGAATTCGTATTGA 0.378000 10 17 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399157 179399157 + Missense_Mutation SNP A A G TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr2:179399157A>G uc021vsy.1 - 306 94706 c.94481T>C c.(94480-94482)aTg>aCg p.M31494T MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M25189T|TTN_uc021vta.1_Missense_Mutation_p.M25122T|TTN_uc021vtb.1_Missense_Mutation_p.M24997T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 32421 Ig-like 140. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGATGCTGTCATGCGAGATTT 0.418000 43 67 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110882663 110882663 + Missense_Mutation SNP C C G TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr1:110882663C>G uc001dzl.1 + 0 719 c.636C>G c.(634-636)agC>agG p.S212R RBM15_uc001dzm.1_Missense_Mutation_p.S212R|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.S212R NM_022768 NP_073605 Q96T37 RBM15_HUMAN Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA. 212 RRM 1. interspecies interaction between organisms nucleus RNA binding|nucleotide binding|protein binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GTTCTGGCAGCGGGGATGAGC 0.602000 T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 38 0 0 1 0 0 KRTAP3-3 85293 broad.mit.edu 37 17 39150166 39150166 + Missense_Mutation SNP C C T rs146610892 byFrequency TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr17:39150166C>T uc002hvr.1 - 0 220 c.184G>A c.(184-186)Gtg>Atg p.V62M NM_033185 NP_149441 Q9BYR6 KRA33_HUMAN Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA. 62 keratin filament structural molecule activity p.V62M(2)|p.C61C(1) lung(2)|prostate(2) 4 Breast(137;0.00043) CAGGTGGGCACGCAGGGCTGA 0.632000 41 46 0 0 1 0 0 PRSS57 400668 broad.mit.edu 37 19 687034 687034 + Missense_Mutation SNP T T C TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr19:687034T>C uc002lpl.1 - 3 567 c.536A>G c.(535-537)aAg>aGg p.K179R PRSS57_uc010xfs.1_Missense_Mutation_p.K178R NM_214710 NP_999875 Q6UWY2 PRS57_HUMAN Homo sapiens protease, serine, 57 (PRSS57), mRNA. 179 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|lung(5) 6 CACTCGGACCTTGGCCTCCAT 0.672000 9 29 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104879560 104879560 + Missense_Mutation SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr11:104879560G>A uc010ruz.1 - 1 226 c.194C>T c.(193-195)aCg>aTg p.T65M CASP5_uc010rva.1_Missense_Mutation_p.T52M|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron NM_001136112 NP_001129584 P51878 CASP5_HUMAN Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA. 52 CARD. apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding p.H65Q(1) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) CTTTTGATCCGTATTAGGTAC 0.373000 6 66 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 48036187 48036187 + Missense_Mutation SNP C C A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr6:48036187C>A uc011dwm.2 - 0 239 c.205G>T c.(205-207)Gac>Tac p.D69Y PTCHD4_uc011dwn.2_Intron|PTCHD4_uc003ozf.2_Missense_Mutation_p.D69Y NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA. 69 integral to membrane hedgehog receptor activity CGCTCCAGGTCGCCCTCGGGC 0.652000 3 37 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137655578 137655578 + Nonsense_Mutation SNP G G T TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr9:137655578G>T uc004cfe.3 + 19 2411 c.2029G>T c.(2029-2031)Gag>Tag p.E677* NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 677 Triple-helical region. E -> K (in Ref. 1; BAA14323).|E -> Q (in Ref. 4; AA sequence). axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCTGCCTGGGGAGCCCGTAAG 0.592000 4 81 0 0 1 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48789079 48789079 + Missense_Mutation SNP T T C TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr3:48789079T>C uc010hki.1 - 10 1395 c.1154A>G c.(1153-1155)tAt>tGt p.Y385C PRKAR2A_uc003cux.1_Missense_Mutation_p.Y385C|PRKAR2A_uc003cuy.1_Missense_Mutation_p.Y363C NM_004157 NP_004148 P13861 KAP2_HUMAN Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, alpha (PRKAR2A), mRNA. 385 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) CTGTTCCTCATAGTGTGAGAT 0.512000 11 20 0 0 1 0 0 ST6GALNAC6 30815 broad.mit.edu 37 9 130658585 130658585 + Missense_Mutation SNP C C T TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr9:130658585C>T uc004bsp.1 - 2 172 c.53G>A c.(52-54)gGg>gAg p.G18E ST6GALNAC6_uc004bsn.1_5'UTR|ST6GALNAC6_uc011man.1_5'UTR|ST6GALNAC6_uc004bso.1_Missense_Mutation_p.G18E|ST6GALNAC6_uc004bsq.1_5'UTR|ST6GALNAC6_uc004bsr.2_5'UTR|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript Q969X2 SIA7F_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA. 18 protein glycosylation integral to Golgi membrane|plasma membrane endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TGCAGGTGGCCCTGGGGGCAG 0.552000 42 67 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34059809 34059809 + Missense_Mutation SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr6:34059809G>A uc003oir.4 - 1 950 c.587C>T c.(586-588)tCc>tTc p.S196F GRM4_uc011dsn.2_Missense_Mutation_p.S196F|GRM4_uc010jvh.3_Missense_Mutation_p.S196F|GRM4_uc010jvi.3_Intron|GRM4_uc010jvk.1_Missense_Mutation_p.S115F|GRM4_uc011dsl.2_Missense_Mutation_p.S56F|GRM4_uc003oiq.3_Missense_Mutation_p.S63F|GRM4_uc011dsm.2_Missense_Mutation_p.S27F NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 196 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CACCACGCGGGAGAAGAAGTC 0.642000 21 73 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685167 100685167 + Silent SNP C C T TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr7:100685167C>T uc003uxp.1 + 2 10523 c.10470C>T c.(10468-10470)acC>acT p.T3490T MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3490 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTGTGACCACTTCTTCTC 0.488000 143 202 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64966384 64966384 + Missense_Mutation SNP C C A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr15:64966384C>A uc002ann.3 + 3 1331 c.1331C>A c.(1330-1332)cCc>cAc p.P444H NM_015042 NP_055857 O15014 ZN609_HUMAN Homo sapiens zinc finger protein 609 (ZNF609), mRNA. 444 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAAAACAAACCCCTTTCAGAC 0.562000 3 74 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31760609 31760609 + Missense_Mutation SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr6:31760609G>A uc003nxe.3 - 3 1009 c.586C>T c.(586-588)Cgg>Tgg p.R196W VARS_uc011doi.1_Non-coding_Transcript NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 196 GST C-terminal. translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) TCTGGCTGCCGGACACACGTG 0.557000 3 53 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120797832 120797832 + Missense_Mutation SNP G G C TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr10:120797832G>C uc001ldu.3 - 19 3792 c.3646C>G c.(3646-3648)Cgg>Ggg p.R1216G EIF3A_uc010qsu.2_Missense_Mutation_p.R1182G|EIF3A_uc009xzg.1_Missense_Mutation_p.R255G NM_003750 NP_003741 Q14152 EIF3A_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA. 1216 Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) ttctcctcccgatcttgatta 0.483000 3 82 0 0 1 0 0 FEZ1 9638 broad.mit.edu 37 11 125359608 125359608 + Silent SNP G G A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr11:125359608G>A uc001qbx.3 - 1 301 c.66C>T c.(64-66)gaC>gaT p.D22D FEZ1_uc010sbc.2_Silent_p.D22D|FEZ1_uc001qby.2_Silent_p.D22D|FEZ1_uc021qrv.1_Silent_p.D22D NM_005103 NP_005094 Q99689 FEZ1_HUMAN Homo sapiens fasciculation and elongation protein zeta 1 (zygin I) (FEZ1), transcript variant 1, mRNA. 22 axon guidance|cell adhesion|transport microtubule|plasma membrane breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) TCTCCTCCGGGTCCTCCGAGC 0.542000 44 71 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64812728 64812728 + Missense_Mutation SNP A A G TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr12:64812728A>G uc001ssb.3 + 5 849 c.343A>G c.(343-345)Aca>Gca p.T115A XPOT_uc009zqm.2_Missense_Mutation_p.T25A NM_007235 NP_009166 O43592 XPOT_HUMAN Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA. 115 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.T115A(4) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GCTTTTTGTTACAGAGTATCT 0.433000 3 55 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101198093 101198093 + Missense_Mutation SNP C C A TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr1:101198093C>A uc001dti.3 + 6 1866 c.1645C>A c.(1645-1647)Cag>Aag p.Q549K VCAM1_uc010ouj.2_Missense_Mutation_p.Q487K|VCAM1_uc001dtj.3_Missense_Mutation_p.Q457K NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 549 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.Q549K(2) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GTGGAGCAGGCAGCTCCCTAA 0.483000 17 21 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73613087 73613089 + In_Frame_Del DEL GCG GCG - rs13009609 TCGA-EL-A3TB-01A-11D-A22D-08 TCGA-EL-A3TB-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0567d3e6-6278-4d0a-81ae-c084d73c6dd3 9dcf95bf-fb65-4589-90cb-302da798f00b g.chr2:73613087_73613089delGCG uc002sje.1 + 0 202_204 c.91_93delGCG c.(91-93)gcgdel p.A35del ALMS1_uc002sjf.1_In_Frame_Del_p.A35del NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 35 Glu-rich. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ggaggCTGCAGCGGCGGCGGCGG 0.675 2 4 --- --- --- ---