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 CNTN2 6900 broad.mit.edu 37 1 205033529 205033529 + Silent SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr1:205033529C>T ENST00000331830.4 + 11 1604 c.1320C>T c.(1318-1320)tgC>tgT p.C440C NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 440 Ig-like C2-type 5. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TTATCCCCTGCCAGCCCCGGG 0.637 4 185 --- --- --- --- POTEF 728378 broad.mit.edu 37 2 130877697 130877697 + Missense_Mutation SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr2:130877697G>A ENST00000357462.5 - 1 485 c.392C>T c.(391-393)cCc>cTc p.P131L POTEF_ENST00000409914.2_Missense_Mutation_p.P131L|POTEF_ENST00000360967.5_Missense_Mutation_p.P131L|POTEF_ENST00000361163.4_Missense_Mutation_p.P131L A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 131 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 GTGGTACCTGGGCTCCATGAA 0.592 38 60 --- --- --- --- POTEE 445582 broad.mit.edu 37 2 131976367 131976367 + Missense_Mutation SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr2:131976367C>T ENST00000356920.5 + 1 486 c.392C>T c.(391-393)cCc>cTc p.P131L PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P131L NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 131 ATP binding TTCATGGAGCCCAGGTACCAC 0.602 5 96 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155253687 155253687 + Missense_Mutation SNP G G T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr4:155253687G>T ENST00000357232.4 - 9 2175 c.2176C>A c.(2176-2178)Cag>Aag p.Q726K DCHS2_ENST00000339452.1_Missense_Mutation_p.Q1225K NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TATAATAGCTGTCCATTCTTT 0.383 35 37 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32069683 32069683 + Missense_Mutation SNP G G T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr5:32069683G>T ENST00000438447.1 + 15 2848 c.2460G>T c.(2458-2460)gaG>gaT p.E820D PDZD2_ENST00000282493.3_Missense_Mutation_p.E820D O15018 PDZD2_HUMAN PDZ domain containing 2 820 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGGTTTCCGAGCAGGAAATGG 0.413 5 35 --- --- --- --- COL19A1 1310 broad.mit.edu 37 6 70854121 70854121 + Missense_Mutation SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr6:70854121G>A ENST00000322773.4 + 24 1748 c.1646G>A c.(1645-1647)gGt>gAt p.G549D COL19A1_ENST00000393344.1_Missense_Mutation_p.G171D NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 549 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGAGAACATGGTATCCCAGGA 0.358 5 160 --- --- --- --- SRSF12 135295 broad.mit.edu 37 6 89814872 89814872 + Missense_Mutation SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr6:89814872C>T ENST00000452027.2 - 4 575 c.382G>A c.(382-384)Gga>Aga p.G128R NM_080743.4 NP_542781.3 Q8WXF0 SRS12_HUMAN serine/arginine-rich splicing factor 12 128 Arg/Ser-rich (RS domain). assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome nucleoplasm nucleotide binding|RNA binding|RS domain binding|unfolded protein binding autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4) 8 CTATTTCTTCCCCATGAAGAA 0.383 4 11 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55268923 55268923 + Missense_Mutation SNP T T G TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr7:55268923T>G ENST00000275493.2 + 25 3166 c.2989T>G c.(2989-2991)Ttc>Gtc p.F997V EGFR_ENST00000454757.2_Missense_Mutation_p.F944V|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.F952V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 997 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGACTCCAACTTCTACCGTGC 0.522 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 38 71 --- --- --- --- ABRA 137735 broad.mit.edu 37 8 107782091 107782091 + Missense_Mutation SNP A A G TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr8:107782091A>G ENST00000311955.3 - 1 382 c.328T>C c.(328-330)Tcc>Ccc p.S110P NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 110 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) ACCGTTTTGGACACCTCTTTC 0.562 5 61 --- --- --- --- SORCS1 114815 broad.mit.edu 37 10 108469017 108469017 + Missense_Mutation SNP G G T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr10:108469017G>T ENST00000263054.6 - 7 1114 c.1107C>A c.(1105-1107)gaC>gaA p.D369E SORCS1_ENST00000344440.6_Missense_Mutation_p.D369E NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 369 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CAATCAAAGAGTCTGGGTCAA 0.388 30 49 --- --- --- --- MRGPRX1 259249 broad.mit.edu 37 11 18955897 18955897 + Silent SNP C C G TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr11:18955897C>G ENST00000302797.3 - 1 659 c.435G>C c.(433-435)ctG>ctC p.L145L MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 145 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GGGCCCAGAGCAGGACACACA 0.597 28 25 --- --- --- --- MEDAG 84935 broad.mit.edu 37 13 31498491 31498491 + Silent SNP A A T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr13:31498491A>T ENST00000380482.4 + 5 1156 c.831A>T c.(829-831)tcA>tcT p.S277S TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586464.1_RNA NM_032849.3 NP_116238 mesenteric estrogen-dependent adipogenesis p.S277S(1) CACCCAGATCATCTCTGACAG 0.363 31 52 --- --- --- --- VWA8 23078 broad.mit.edu 37 13 42267091 42267091 + Missense_Mutation SNP C C A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr13:42267091C>A ENST00000379310.3 - 30 3650 c.3582G>T c.(3580-3582)ttG>ttT p.L1194F VWA8_ENST00000478987.1_5'UTR NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 TAGTATCTAACAACAGGATAA 0.383 10 23 --- --- --- --- KDM4B 23030 broad.mit.edu 37 19 5039897 5039897 + Silent SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr19:5039897C>T ENST00000159111.4 + 4 410 c.192C>T c.(190-192)gaC>gaT p.D64D KDM4B_ENST00000381759.4_Silent_p.D64D|KDM4B_ENST00000536461.1_Silent_p.D64D NM_015015.2 NP_055830 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 64 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 ATGACATCGACGACGTGGTGA 0.612 23 56 --- --- --- --- ZNF676 163223 broad.mit.edu 37 19 22363305 22363305 + Missense_Mutation SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr19:22363305G>A ENST00000397121.2 - 3 1531 c.1214C>T c.(1213-1215)tCc>tTc p.S405F NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GAGCTTTGAGGATGAGTTGGA 0.423 50 73 --- --- --- --- SERINC3 10955 broad.mit.edu 37 20 43142587 43142587 + Missense_Mutation SNP A A C TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr20:43142587A>C ENST00000342374.4 - 2 291 c.134T>G c.(133-135)aTt>aGt p.I45S SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.I45S NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 45 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) CAGGAGGAGAATGAAAGCATA 0.448 30 49 --- --- --- --- ABCG1 9619 broad.mit.edu 37 21 43706090 43706090 + Missense_Mutation SNP A A G TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr21:43706090A>G ENST00000398437.1 + 9 1545 c.1397A>G c.(1396-1398)aAc>aGc p.N466S ABCG1_ENST00000340588.4_Missense_Mutation_p.N428S|ABCG1_ENST00000398449.3_Missense_Mutation_p.N320S|ABCG1_ENST00000347800.2_Missense_Mutation_p.N317S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.N331S|ABCG1_ENST00000398457.2_Missense_Mutation_p.N322S|ABCG1_ENST00000361802.2_Missense_Mutation_p.N320S P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 320 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) ACCTACCACAACCCAGCAGAT 0.517 74 81 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38121968 38121968 + Silent SNP A A G TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr22:38121968A>G ENST00000406386.3 + 7 3660 c.3405A>G c.(3403-3405)ttA>ttG p.L1135L NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1135 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTTCCCTCTTATTCCAGGACC 0.642 40 49 --- --- --- --- MXRA5 25878 broad.mit.edu 37 X 3238698 3238698 + Silent SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chrX:3238698C>T ENST00000217939.6 - 5 5182 c.5028G>A c.(5026-5028)ttG>ttA p.L1676L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1676 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGGACATGTGCAATGGGAGAG 0.418 14 141 --- --- --- --- BCORL1 63035 broad.mit.edu 37 X 129148368 129148369 + Frame_Shift_Ins INS - - C TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chrX:129148368_129148369insC ENST00000540052.1 + 3 1664_1665 c.1620_1621insC c.(1621-1623)cccfs p.P541fs BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.P541fs NM_021946.4 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 541 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CCCAGCCTGCACCCGATGGGGT 0.624 7 105 --- --- --- ---