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 SVIL 6840 broad.mit.edu 37 10 29775061 29775061 + Missense_Mutation SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr10:29775061C>T ENST00000375398.2 - 28 5181 c.4732G>A c.(4732-4734)Gac>Aac p.D1578N SVIL_ENST00000538146.1_Missense_Mutation_p.D370N|SVIL_ENST00000375400.3_Missense_Mutation_p.D1152N|SVIL_ENST00000535393.1_Missense_Mutation_p.D492N|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.D1578N O95425 SVIL_HUMAN supervillin 1578 Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CCCCAGTAGTCGTCATCAGGA 0.473000 11 62 0 0 1 0 0 LBH 81606 broad.mit.edu 37 2 30480447 30480447 + Missense_Mutation SNP A A G TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr2:30480447A>G ENST00000395323.3 + 3 486 c.278A>G c.(277-279)gAt>gGt p.D93G LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.D99G|LBH_ENST00000407930.2_Missense_Mutation_p.D76G|LBH_ENST00000404397.1_Intron|LBH_ENST00000467242.1_3'UTR NM_030915.3 NP_112177.2 Q53QV2 LBH_HUMAN limb bud and heart development 93 multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus endometrium(2)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(172;0.155) GATGAGCAAGATAACTGCGAA 0.557000 13 25 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39495171 39495171 + Nonsense_Mutation SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr8:39495171G>A ENST00000265707.5 + 9 821 c.776G>A c.(775-777)tGg>tAg p.W259* ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.W235* NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 259 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTTTTGGCATGGAAACGGGAC 0.358000 18 65 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262073 158262073 + Silent SNP A A T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr1:158262073A>T ENST00000368170.3 + 3 807 c.528A>T c.(526-528)acA>acT p.T176T NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 176 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) TCACAGAAACAGTGTATAATC 0.478000 7 281 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41519413 41519413 + Missense_Mutation SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr8:41519413G>A ENST00000396942.1 - 41 5608 c.5525C>T c.(5524-5526)gCc>gTc p.A1842V RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V|ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000347528.4_Missense_Mutation_p.A1842V|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|ANK1_ENST00000396945.1_Intron P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1842 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTCCTGGGCGGCATCGGCGCT 0.572000 3 48 0 0 1 0 0 AC096579.13 0 broad.mit.edu 37 2 89160141 89160141 + RNA SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr2:89160141C>T ENST00000452230.1 - 0 39 AC096579.7_ENST00000430694.1_RNA TAATTACTTTCCCCTTAACAA 0.403000 3 29 0 0 1 0 0 IGHV4-4 0 broad.mit.edu 37 14 106478466 106478466 + RNA SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr14:106478466C>T ENST00000390596.2 - 0 110 CTCCCATATCCCCATGTCTGC 0.587000 3 42 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41160290 41160290 + Silent SNP G G T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr5:41160290G>T ENST00000263413.3 - 11 1902 c.1638C>A c.(1636-1638)ggC>ggA p.G546G C6_ENST00000337836.5_Silent_p.G546G NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 546 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CACCATAGGTGCCACTCTGAC 0.463000 19 59 7.87624e-14 8.37898e-14 1 1 0 ABCA1 19 broad.mit.edu 37 9 107593339 107593339 + Missense_Mutation SNP G G A rs2853574 TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr9:107593339G>A ENST00000374736.3 - 14 2153 c.1759C>T c.(1759-1761)Cgg>Tgg p.R587W NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 587 R -> W (in HDLD1; dbSNP:rs2853574). Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAGACGTACCGCATGTCCTCA 0.502000 3 49 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 3 66 0 0 1 0 0 FRS3 10817 broad.mit.edu 37 6 41738928 41738928 + Missense_Mutation SNP C C T rs143790685 TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr6:41738928C>T ENST00000373018.3 - 7 1159 c.908G>A c.(907-909)aGc>aAc p.S303N FRS3_ENST00000259748.2_Missense_Mutation_p.S303N NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 303 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTCCTCTGGGCTCAGTCTCCA 0.652000 8 23 0 0 1 0 0 ASGR2 433 broad.mit.edu 37 17 7012080 7012080 + Silent SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr17:7012080G>A ENST00000380952.2 - 3 516 c.252C>T c.(250-252)caC>caT p.H84H ASGR2_ENST00000355035.5_Silent_p.H84H|ASGR2_ENST00000254850.7_Intron|ASGR2_ENST00000446679.2_Silent_p.H65H NM_001181.4|NM_001201352.1|NM_080912.3 NP_001172.1|NP_001188281.1|NP_550434.1 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 84 cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) GCTGGCCCCCGTGACCCTCAC 0.632000 10 10 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37315953 37315953 + Missense_Mutation SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr1:37315953C>T ENST00000373091.3 - 9 1301 c.1285G>A c.(1285-1287)Gac>Aac p.D429N GRIK3_ENST00000373093.4_Missense_Mutation_p.D429N|GRIK3_ENST00000462621.1_5'UTR NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 429 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GTCAGAGAGTCGGTGACATTA 0.587000 22 47 0 0 1 0 0 LASP1 3927 broad.mit.edu 37 17 37074891 37074891 + Missense_Mutation SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr17:37074891G>A ENST00000318008.6 + 7 977 c.646G>A c.(646-648)Gcc>Acc p.A216T LASP1_ENST00000433206.2_Missense_Mutation_p.A160T|LASP1_ENST00000435347.3_Missense_Mutation_p.A216T NM_006148.2 NP_006139.1 Q14847 LASP1_HUMAN LIM and SH3 protein 1 216 SH3. cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding breast(1)|large_intestine(2)|lung(4)|urinary_tract(2) 9 CTACAGCGCCGCCGACGAGGA 0.637000 T MLL AML 26 69 0 0 1 0 0 IL26 55801 broad.mit.edu 37 12 68619557 68619557 + Translation_Start_Site SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr12:68619557G>A ENST00000229134.4 - 0 44 IFNG-AS1_ENST00000536914.1_RNA NM_018402.1 NP_060872.1 Q9NPH9 IL26_HUMAN interleukin 26 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) CCCACTCAGCGTGTGTCACTC 0.483000 18 56 0 0 1 0 0 TMED10 10972 broad.mit.edu 37 14 75602590 75602590 + Splice_Site SNP C C G TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr14:75602590C>G ENST00000303575.4 - 4 463 c.e4-1 RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) CTTTTGCAATCTGGAAAAGAA 0.368000 20 40 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606971 55606971 + Silent SNP T T A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr11:55606971T>A ENST00000378396.1 + 1 744 c.744T>A c.(742-744)acT>acA p.T248T NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) CCCACCTGACTGCCATCACCA 0.507000 11 60 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 5 30 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96829289 96829289 + Missense_Mutation SNP T T C TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr14:96829289T>C ENST00000359933.4 - 1 918 c.25A>G c.(25-27)Atc>Gtc p.I9V NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 9 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CTCTTCTTGATGGACTCCGAA 0.647000 18 61 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829588 146829588 + Silent SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr7:146829588C>T ENST00000361727.3 + 8 1851 c.1335C>T c.(1333-1335)atC>atT p.I445I NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 445 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGAGCCAAATCGATATTTCCT 0.403000 HNSCC(39;0.1) 13 44 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32621514 32621514 + Missense_Mutation SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr8:32621514C>T ENST00000338921.4 + 13 2058 c.1541C>T c.(1540-1542)gCg>gTg p.A514V NRG1_ENST00000519301.1_Missense_Mutation_p.A456V|NRG1_ENST00000539990.1_Missense_Mutation_p.A349V|NRG1_ENST00000287845.5_Missense_Mutation_p.A477V|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.A503V|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.A511V|NRG1_ENST00000405005.2_Missense_Mutation_p.A506V|NRG1_ENST00000287840.5_Missense_Mutation_p.A506V Q02297 NRG1_HUMAN neuregulin 1 506 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CACAACCCCGCGCATGACAGT 0.547000 9 24 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69703688 69703688 + Missense_Mutation SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr6:69703688G>A ENST00000370598.1 + 11 2584 c.1763G>A c.(1762-1764)cGa>cAa p.R588Q NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 588 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R588P(1)|p.R588Q(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AAGGGGCAGCGAATGCTGGCA 0.418000 33 171 0 0 1 0 0 LPPR5 0 broad.mit.edu 37 1 99380467 99380467 + Missense_Mutation SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr1:99380467C>T ENST00000370188.3 - 5 1168 c.808G>A c.(808-810)Gtg>Atg p.V270M LPPR5_ENST00000263177.4_Missense_Mutation_p.V270M NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 270 integral to membrane hydrolase activity TTATTCACCACGCACACAACC 0.393000 19 98 0 0 1 0 0 LDHC 3948 broad.mit.edu 37 11 18460141 18460141 + Missense_Mutation SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr11:18460141C>T ENST00000541669.1 + 6 770 c.659C>T c.(658-660)aCg>aTg p.T220M LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.T206M|LDHC_ENST00000280704.4_Missense_Mutation_p.T220M|LDHC_ENST00000546146.1_Missense_Mutation_p.T162M|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000544105.1_Missense_Mutation_p.T220M P07864 LDHC_HUMAN lactate dehydrogenase C 220 glycolysis cytoplasm binding|L-lactate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) AAATTAGGAACGGATTCAGAT 0.358000 14 42 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 60003895 60003895 + Silent SNP A A C TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr17:60003895A>C ENST00000444766.3 - 2 210 c.135T>G c.(133-135)ctT>ctG p.L45L INTS2_ENST00000251334.6_Silent_p.L37L NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 45 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 AACAGGGCAGAAGAAGTCTTA 0.478000 6 14 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6087153 6087153 + Silent SNP G G A rs145998748 TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr4:6087153G>A ENST00000409021.3 - 4 1277 c.828C>T c.(826-828)ggC>ggT p.G276G JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Silent_p.G276G|JAKMIP1_ENST00000410077.2_Silent_p.G111G|JAKMIP1_ENST00000409831.1_Silent_p.G276G|JAKMIP1_ENST00000409371.3_Silent_p.G111G NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 276 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCACCTGGACGCCCATGAGCT 0.617000 8 26 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6541310 6541310 + Missense_Mutation SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr11:6541310C>T ENST00000254579.6 + 9 2327 c.1763C>T c.(1762-1764)tCt>tTt p.S588F DNHD1_ENST00000527990.2_Missense_Mutation_p.S588F|DNHD1_ENST00000354685.3_Missense_Mutation_p.S588F NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 588 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGCCTACAGTCTGTCAAGACC 0.483000 13 36 0 0 1 0 0 MYB 4602 broad.mit.edu 37 6 135515025 135515025 + Missense_Mutation SNP A A T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr6:135515025A>T ENST00000341911.5 + 7 1011 c.812A>T c.(811-813)aAt>aTt p.N271I MYB_ENST00000442647.2_Missense_Mutation_p.N271I|MYB_ENST00000420123.2_Missense_Mutation_p.N247I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000316528.8_Missense_Mutation_p.N271I|MYB_ENST00000367814.4_Missense_Mutation_p.N271I|MYB_ENST00000528774.1_Missense_Mutation_p.N271I|MYB_ENST00000534121.1_Missense_Mutation_p.N271I|MYB_ENST00000534044.1_Missense_Mutation_p.N271I|MYB_ENST00000527615.1_Missense_Mutation_p.N271I|MYB_ENST00000525369.1_Missense_Mutation_p.N271I|MYB_ENST00000533624.1_Missense_Mutation_p.N271I NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 271 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) AATATAGTCAATGTCCCTCAG 0.413000 T NFIB adenoid cystic carcinoma 24 61 0 0 1 0 0 TNFRSF8 0 broad.mit.edu 37 1 12170181 12170181 + Missense_Mutation SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr1:12170181G>A ENST00000263932.2 + 6 818 c.596G>A c.(595-597)cGc>cAc p.R199H TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R88H NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 199 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) GGGGGCACCCGCCTCGCCCAG 0.622000 16 25 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947732 237947732 + Silent SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr1:237947732G>A ENST00000366574.2 + 90 13037 c.12720G>A c.(12718-12720)acG>acA p.T4240T RYR2_ENST00000542537.1_Silent_p.T4224T|RYR2_ENST00000360064.6_Silent_p.T4246T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4240 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCATTCTGACGGTCAGGTCGG 0.507000 7 25 0 0 1 0 0 AASDHPPT 60496 broad.mit.edu 37 11 105948438 105948438 + Translation_Start_Site SNP A A C TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr11:105948438A>C ENST00000278618.4 + 1 223 c.1A>C c.(1-3)Atg>Ctg p.M1L KBTBD3_ENST00000531837.1_5'UTR NM_015423.2 NP_056238.2 Q9NRN7 ADPPT_HUMAN aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase 1 macromolecule biosynthetic process|pantothenate metabolic process cytosol holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1) 17 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041) CTTTCAGTGTATGGTTTTCCC 0.667000 8 43 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24397629 24397629 + Missense_Mutation SNP T T C TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr1:24397629T>C ENST00000330966.7 - 25 3293 c.3131A>G c.(3130-3132)aAc>aGc p.N1044S MYOM3_ENST00000374434.3_Missense_Mutation_p.N1043S|MYOM3_ENST00000329601.7_Missense_Mutation_p.N1043S|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 1043 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GATCTCCTTGTTGTTGAAGAT 0.567000 OREG0013235 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 44 0 0 1 0 0 PRRT3 285368 broad.mit.edu 37 3 9990882 9990882 + Silent SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr3:9990882C>T ENST00000412055.1 - 2 1047 c.918G>A c.(916-918)ccG>ccA p.P306P PRRT3_ENST00000411976.2_Silent_p.P306P|PRRT3-AS1_ENST00000431558.1_RNA NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 306 Pro-rich. integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 CCTGCTTGGGCGGGGGACCTG 0.652000 12 43 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54783701 54783701 + Missense_Mutation SNP G G T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chrX:54783701G>T ENST00000218436.6 - 8 2835 c.2806C>A c.(2806-2808)Ccc>Acc p.P936T NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 936 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CTTCCAGGGGGCAGAGTGGGA 0.562000 11 13 0.0692343 0.0706473 1 1 0 PRR23B 389151 broad.mit.edu 37 3 138739004 138739004 + Missense_Mutation SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr3:138739004C>T ENST00000329447.5 - 1 764 c.500G>A c.(499-501)cGg>cAg p.R167Q MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 167 p.R167Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGAGTCCATCCGGAGCTCCGG 0.647000 5 29 0 0 1 0 0 GGT7 2686 broad.mit.edu 37 20 33440316 33440316 + Missense_Mutation SNP C C A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr20:33440316C>A ENST00000336431.5 - 11 1389 c.1345G>T c.(1345-1347)Ggc>Tgc p.G449C NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 449 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 TTGATATGGCCCCGGAGGTAG 0.582000 9 48 2.17888e-05 2.26966e-05 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33324502 33324502 + Missense_Mutation SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr20:33324502G>A ENST00000374796.2 - 13 8524 c.5954C>T c.(5953-5955)gCc>gTc p.A1985V NCOA6_ENST00000359003.2_Missense_Mutation_p.A1985V Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1985 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ACCTGGTCTGGCAACAGAGGC 0.453000 3 52 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 6 13 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 7 12 --- --- --- ---