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 ELTD1 64123 broad.mit.edu 37 1 79470893 79470893 + Missense_Mutation SNP T T A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:79470893T>A ENST00000370742.3 - 2 97 c.34A>T c.(34-36)Act>Tct p.T12S NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 12 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTCAACAAAGTGGAAAAAACC 0.313 12 31 --- --- --- --- OBSCN 84033 broad.mit.edu 37 1 228466409 228466409 + Silent SNP G G A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:228466409G>A ENST00000570156.2 + 31 8240 c.8166G>A c.(8164-8166)gtG>gtA p.V2722V OBSCN_ENST00000284548.11_Silent_p.V2293V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.V1140V|OBSCN_ENST00000422127.1_Silent_p.V2293V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1720 Ig-like 26. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGACCCTCGTGCGCCCGCTGC 0.667 11 84 --- --- --- --- ZNF695 57116 broad.mit.edu 37 1 247151356 247151356 + Missense_Mutation SNP T T C TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:247151356T>C ENST00000339986.7 - 4 608 c.461A>G c.(460-462)aAa>aGa p.K154R ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron NM_020394.4 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein 695 154 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTGAAAGTTTTTGCTATGAGT 0.348 24 245 --- --- --- --- C1QL2 165257 broad.mit.edu 37 2 119915213 119915213 + Missense_Mutation SNP C C T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr2:119915213C>T ENST00000272520.3 - 1 1252 c.633G>A c.(631-633)atG>atA p.M211I NM_182528.3 NP_872334.2 Q7Z5L3 C1QL2_HUMAN complement component 1, q subcomponent-like 2 211 C1q. collagen NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1) 7 CGCCGCCGCGCATGAGGATGT 0.637 HNSCC(49;0.14) 25 45 --- --- --- --- TNFAIP6 7130 broad.mit.edu 37 2 152235947 152235947 + Missense_Mutation SNP T T C TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr2:152235947T>C ENST00000243347.3 + 6 809 c.734T>C c.(733-735)gTt>gCt p.V245A NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 245 CUB. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) ATCAAATATGTTGCAATGGAT 0.378 15 159 --- --- --- --- CAND2 23066 broad.mit.edu 37 3 12845003 12845003 + Missense_Mutation SNP G G T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr3:12845003G>T ENST00000456430.2 + 2 126 c.85G>T c.(85-87)Gac>Tac p.D29Y CAND2_ENST00000295989.5_Missense_Mutation_p.D29Y NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 29 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GGCCACCAGCGACCTGATGTC 0.607 4 79 --- --- --- --- LRRC16A 55604 broad.mit.edu 37 6 25538149 25538149 + Missense_Mutation SNP G G A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr6:25538149G>A ENST00000329474.6 + 25 2502 c.2134G>A c.(2134-2136)Gct>Act p.A712T NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 712 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 TGGGGGAGACGCTATCCAGGA 0.433 3 16 --- --- --- --- TAF5 6877 broad.mit.edu 37 10 105133312 105133312 + Missense_Mutation SNP T T A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr10:105133312T>A ENST00000369839.3 + 2 780 c.757T>A c.(757-759)Tac>Aac p.Y253N TAF5_ENST00000351396.4_Missense_Mutation_p.Y253N NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 253 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) GGAGCTAGTCTACAATCAACA 0.388 29 54 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105420975 105420975 + Silent SNP C C A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr14:105420975C>A ENST00000333244.5 - 7 932 c.813G>T c.(811-813)cgG>cgT p.R271R NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 271 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTCCCGGCCCCCGCTTGCTCT 0.582 7 19 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25442635 25442635 + RNA SNP G G T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr15:25442635G>T ENST00000424208.1 + 0 1611 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA NR_003305.1 CCTTCCTGATGCCCTGGTCTC 0.592 34 69 --- --- --- --- FBN1 2200 broad.mit.edu 37 15 48905245 48905245 + Missense_Mutation SNP C C G TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr15:48905245C>G ENST00000316623.5 - 3 664 c.209G>C c.(208-210)gGa>gCa p.G70A NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 70 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGTTTTCCATCCAGGGCAACA 0.383 15 134 --- --- --- --- RPL28 6158 broad.mit.edu 37 19 55898050 55898050 + Missense_Mutation SNP A A T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr19:55898050A>T ENST00000344063.2 + 3 823 c.194A>T c.(193-195)aAg>aTg p.K65M RPL28_ENST00000458349.2_Missense_Mutation_p.K65M|RPL28_ENST00000558815.1_Missense_Mutation_p.K65M|RPL28_ENST00000560055.1_Missense_Mutation_p.K65M|RPL28_ENST00000428193.2_Missense_Mutation_p.K65M|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000559463.1_Missense_Mutation_p.K65M|RPL28_ENST00000560583.1_Missense_Mutation_p.K65M|RPL28_ENST00000431533.2_Missense_Mutation_p.K65M|RPL28_ENST00000558752.1_Missense_Mutation_p.K65M P46779 RL28_HUMAN ribosomal protein L28 65 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) GTGGTCATTAAGCGGAGATCC 0.577 47 113 --- --- --- --- ENTPD6 955 broad.mit.edu 37 20 25201904 25201904 + Missense_Mutation SNP C C T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr20:25201904C>T ENST00000360031.2 + 11 1159 c.977C>T c.(976-978)tCt>tTt p.S326F ENTPD6_ENST00000376652.4_Missense_Mutation_p.S327F|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S310F NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 327 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 CCTTGCTTGTCTCCCAGTTTC 0.512 20 43 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20922879 20922879 + Missense_Mutation SNP G G C TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr22:20922879G>C ENST00000263205.7 + 8 1182 c.1113G>C c.(1111-1113)caG>caC p.Q371H MED15_ENST00000382974.2_Missense_Mutation_p.Q300H|MED15_ENST00000292733.7_Missense_Mutation_p.Q371H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_Missense_Mutation_p.Q176H|MED15_ENST00000406969.1_Missense_Mutation_p.Q345H|MED15_ENST00000425759.2_Missense_Mutation_p.Q260H|MED15_ENST00000541476.1_Missense_Mutation_p.Q345H NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 371 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) CAGCAGTACAGACAGCTCAGG 0.617 12 42 --- --- --- ---