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 DNAJB4 11080 broad.mit.edu 37 1 78478968 78478968 + Missense_Mutation SNP G G T TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr1:78478968G>T ENST00000370763.5 + 2 702 c.445G>T c.(445-447)Gtg>Ttg p.V149L DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron NM_007034.3 NP_008965.2 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 149 protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 CAGGAATTCTGTGGGGCCATC 0.413 20 68 --- --- --- --- HSD3B1 3283 broad.mit.edu 37 1 120056908 120056908 + Nonsense_Mutation SNP C C A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr1:120056908C>A ENST00000235547.6 + 4 907 c.768C>A c.(766-768)taC>taA p.Y256* HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.Y254*|HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.Y254* NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 254 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GACAGTTCTACTATATCTCAG 0.522 18 62 --- --- --- --- TARS2 80222 broad.mit.edu 37 1 150468986 150468986 + Missense_Mutation SNP G G T TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr1:150468986G>T ENST00000369064.3 + 8 837 c.803G>T c.(802-804)gGg>gTg p.G268V TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 268 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) AGGTCTTCAGGGGCCCCAGAG 0.517 7 102 --- --- --- --- CLK2 1196 broad.mit.edu 37 1 155239353 155239353 + Missense_Mutation SNP G G A rs139555196 TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr1:155239353G>A ENST00000368361.4 - 3 640 c.325C>T c.(325-327)Cgc>Tgc p.R109C CLK2_ENST00000361168.5_Missense_Mutation_p.R109C|CLK2_ENST00000536801.1_Missense_Mutation_p.R109C|CLK2_ENST00000355560.4_Missense_Mutation_p.R108C P49760 CLK2_HUMAN CDC-like kinase 2 109 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R109S(1) endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CGCTGGCTGCGGTAACTGCTG 0.592 Other conserved DNA damage response genes 4 103 --- --- --- --- TPR 7175 broad.mit.edu 37 1 186326600 186326600 + Silent SNP T T C TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr1:186326600T>C ENST00000367478.4 - 14 1949 c.1653A>G c.(1651-1653)caA>caG p.Q551Q TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CTAAGAGACGTTGATTTTGTT 0.388 T NTRK1 papillary thyroid 11 46 --- --- --- --- SIPA1L2 57568 broad.mit.edu 37 1 232649718 232649718 + Silent SNP G G A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr1:232649718G>A ENST00000366630.1 - 2 1726 c.1368C>T c.(1366-1368)tcC>tcT p.S456S SIPA1L2_ENST00000262861.4_Silent_p.S456S Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 456 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.S456S(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CTTCCAAGACGGAGACACCTG 0.493 4 137 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26689990 26689990 + Missense_Mutation SNP C C T TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr2:26689990C>T ENST00000272371.2 - 35 4465 c.4339G>A c.(4339-4341)Gag>Aag p.E1447K OTOF_ENST00000339598.3_Missense_Mutation_p.E680K|OTOF_ENST00000402415.3_Missense_Mutation_p.E757K|OTOF_ENST00000403946.3_Missense_Mutation_p.E1447K|OTOF_ENST00000338581.6_Missense_Mutation_p.E680K NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1447 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAATGCGCTCCTCCTCGGTG 0.627 9 29 --- --- --- --- RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373 4 296 --- --- --- --- TLK1 9874 broad.mit.edu 37 2 171902685 171902685 + Splice_Site SNP G G C TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr2:171902685G>C ENST00000442919.2 - 11 1639 c.1024C>G c.(1024-1026)Ctg>Gtg p.L342V TLK1_ENST00000360843.3_Splice_Site_p.L411V|TLK1_ENST00000431350.2_Splice_Site_p.L390V|TLK1_ENST00000434911.2_Splice_Site_p.L294V|TLK1_ENST00000521943.1_Splice_Site_p.L342V NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 390 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 GAGGCTTACAGTTGTGGTAAA 0.333 4 78 --- --- --- --- COL4A4 1286 broad.mit.edu 37 2 227924243 227924243 + Missense_Mutation SNP C C T TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr2:227924243C>T ENST00000396625.3 - 28 2468 c.2261G>A c.(2260-2262)gGt>gAt p.G754D COL4A4_ENST00000329662.7_Missense_Mutation_p.G754D NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 754 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TCCTTTCTGACCATTCACTCC 0.587 19 39 --- --- --- --- CYP8B1 1582 broad.mit.edu 37 3 42916185 42916185 + Missense_Mutation SNP A A T TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr3:42916185A>T ENST00000316161.4 - 1 1448 c.1124T>A c.(1123-1125)cTg>cAg p.L375Q RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L375Q NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 375 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) ATGGCGGAACAGATACTCCTG 0.582 17 45 --- --- --- --- PLCH1 23007 broad.mit.edu 37 3 155205833 155205833 + Missense_Mutation SNP T T C TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr3:155205833T>C ENST00000460012.1 - 21 2870 c.2513A>G c.(2512-2514)aAt>aGt p.N838S PLCH1_ENST00000414191.1_Missense_Mutation_p.N838S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N838S|PLCH1_ENST00000340059.7_Missense_Mutation_p.N856S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N856S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N856S Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 856 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATAGATTTCATTGATGGTTAT 0.338 14 25 --- --- --- --- G3BP2 9908 broad.mit.edu 37 4 76579226 76579226 + Missense_Mutation SNP G G A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr4:76579226G>A ENST00000359707.4 - 8 1551 c.766C>T c.(766-768)Cct>Tct p.P256S G3BP2_ENST00000395719.3_Missense_Mutation_p.P256S|G3BP2_ENST00000357854.3_Intron NM_203505.2 NP_987101.1 Q9UN86 G3BP2_HUMAN GTPase activating protein (SH3 domain) binding protein 2 256 cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GTACCACTAGGAGGCAGGTTT 0.443 3 12 --- --- --- --- SPARCL1 8404 broad.mit.edu 37 4 88401672 88401672 + Splice_Site SNP C C T TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr4:88401672C>T ENST00000418378.1 - 10 2240 c.1669G>A c.(1669-1671)Gtc>Atc p.V557I SPARCL1_ENST00000282470.6_Splice_Site_p.V557I|SPARCL1_ENST00000503414.1_Splice_Site_p.V432I NM_001128310.1 NP_001121782.1 Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) 557 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) ATTTTCTTGACCTGGGATTAG 0.398 20 49 --- --- --- --- BYSL 705 broad.mit.edu 37 6 41900430 41900430 + Missense_Mutation SNP A A T rs144306191 by1000genomes TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr6:41900430A>T ENST00000230340.4 + 7 1675 c.1300A>T c.(1300-1302)Atc>Ttc p.I434F NM_004053.3 NP_004044.3 Q13895 BYST_HUMAN bystin-like 434 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGATGTTCCCATCACCGTGGA 0.557 8 15 --- --- --- --- VGLL2 245806 broad.mit.edu 37 6 117589488 117589488 + Silent SNP A A C TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr6:117589488A>C ENST00000326274.5 + 2 415 c.225A>C c.(223-225)ccA>ccC p.P75P VGLL2_ENST00000352536.3_Silent_p.P75P NM_182645.3 NP_872586.1 Q8N8G2 VGLL2_HUMAN vestigial like 2 (Drosophila) 75 transcription, DNA-dependent nucleus central_nervous_system(1)|kidney(1)|lung(3) 5 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) AAGAGCGCCCACCAGAGGCAG 0.577 13 102 --- --- --- --- TAAR2 9287 broad.mit.edu 37 6 132939259 132939259 + Missense_Mutation SNP C C T TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr6:132939259C>T ENST00000367931.1 - 2 85 c.86G>A c.(85-87)gGa>gAa p.G29E TAAR2_ENST00000275191.2_5'UTR|TAAR2_ENST00000537809.1_5'UTR Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 29 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) AGATCTATTTCCATATTCAGA 0.308 4 70 --- --- --- --- EPM2A 7957 broad.mit.edu 37 6 145956563 145956563 + Missense_Mutation SNP T T A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr6:145956563T>A ENST00000367519.3 - 3 1061 c.536A>T c.(535-537)aAa>aTa p.K179I EPM2A_ENST00000496228.1_5'UTR NM_005670.3 NP_005661.1 O95278 EPM2A_HUMAN epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 179 glycogen metabolic process cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 7 Ovarian(120;0.162) OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203) ATGCTTCAGTTTGATGGTTAC 0.438 33 71 --- --- --- --- AEBP1 165 broad.mit.edu 37 7 44152662 44152662 + Missense_Mutation SNP C C A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr7:44152662C>A ENST00000223357.3 + 19 2947 c.2642C>A c.(2641-2643)cCt>cAt p.P881H AEBP1_ENST00000450684.2_Missense_Mutation_p.P456H NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 881 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 GACAAGTTCCCTCATGAGAGT 0.577 6 238 --- --- --- --- CCT6P3 643180 broad.mit.edu 37 7 64525465 64525465 + RNA SNP T T G TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr7:64525465T>G ENST00000426828.1 + 0 295 NR_033416.1 TCCAACGTCCTAATCATTGGA 0.398 39 80 --- --- --- --- RAD21 5885 broad.mit.edu 37 8 117859877 117859877 + Silent SNP T T G TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr8:117859877T>G ENST00000297338.2 - 14 2045 c.1758A>C c.(1756-1758)cgA>cgC p.R586R RAD21_ENST00000523986.1_Silent_p.R90R|RAD21_ENST00000517749.1_Silent_p.R24R|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron|RAD21_ENST00000518055.1_Silent_p.R131R NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 586 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TGTTCGTATTTCGACATAACT 0.388 9 62 --- --- --- --- NOL6 65083 broad.mit.edu 37 9 33468419 33468419 + Splice_Site SNP G G A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr9:33468419G>A ENST00000379471.2 - 10 1295 c.1208C>T c.(1207-1209)cCg>cTg p.P403L NOL6_ENST00000455041.2_Splice_Site_p.P343L|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 403 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGCCAGGGCCGGCTTGGGGGG 0.577 6 17 --- --- --- --- CLEC4C 170482 broad.mit.edu 37 12 7882195 7882195 + Missense_Mutation SNP T T C rs147980423 TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr12:7882195T>C ENST00000542353.1 - 7 1129 c.639A>G c.(637-639)atA>atG p.I213M CLEC4C_ENST00000354629.5_Missense_Mutation_p.I182M|CLEC4C_ENST00000360345.3_Missense_Mutation_p.I213M|CLEC4C_ENST00000540085.1_Missense_Mutation_p.I182M NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 213 innate immune response integral to membrane sugar binding p.I213M(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) ATTTCATTTATATGTAGATCT 0.353 5 38 --- --- --- --- CCNA1 8900 broad.mit.edu 37 13 37014263 37014263 + Silent SNP T T C TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr13:37014263T>C ENST00000418263.1 + 6 1388 c.1038T>C c.(1036-1038)ttT>ttC p.F346F CCNA1_ENST00000255465.4_Silent_p.F347F|CCNA1_ENST00000440264.1_Silent_p.F303F|CCNA1_ENST00000449823.1_Silent_p.F303F NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 347 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CCAACCAGTTTCTCCTTCAGT 0.458 28 86 --- --- --- --- TRMT61A 115708 broad.mit.edu 37 14 104000981 104000981 + Silent SNP G G A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr14:104000981G>A ENST00000389749.4 + 4 800 c.693G>A c.(691-693)ctG>ctA p.L231L NM_152307.2 NP_689520.2 Q96FX7 TRM61_HUMAN tRNA methyltransferase 61 homolog A (S. cerevisiae) 231 nucleus protein binding|tRNA (adenine-N1-)-methyltransferase activity skin(1) 1 TGAGCACCCTGGAGGTGCTGC 0.682 13 11 --- --- --- --- IGHG2 3501 broad.mit.edu 37 14 106110960 106110960 + RNA SNP G G A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr14:106110960G>A ENST00000390545.2 - 0 167 AGGACTGTAGGACAGCCGGGA 0.632 11 45 --- --- --- --- GRIN2A 2903 broad.mit.edu 37 16 9857616 9857616 + Missense_Mutation SNP G G C TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr16:9857616G>C ENST00000396573.2 - 14 4094 c.3785C>G c.(3784-3786)aCc>aGc p.T1262S GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1262S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1262S|GRIN2A_ENST00000562109.1_Intron NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1262 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTGCTCCCCGGTGGCTGGGTT 0.522 3 81 --- --- --- --- OR1D2 4991 broad.mit.edu 37 17 2995484 2995484 + Missense_Mutation SNP C C A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr17:2995484C>A ENST00000331459.1 - 1 806 c.807G>T c.(805-807)aaG>aaT p.K269N NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 269 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 CTACTGAGTCCTTCACAGAGT 0.512 4 62 --- --- --- --- DNAH2 146754 broad.mit.edu 37 17 7680790 7680790 + Missense_Mutation SNP A A C TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr17:7680790A>C ENST00000572933.1 + 33 6545 c.5085A>C c.(5083-5085)gaA>gaC p.E1695D DNAH2_ENST00000389173.2_Missense_Mutation_p.E1695D Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1695 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGTATTCAGAAGCCATCAGGG 0.498 18 322 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr17:47696432A>C ENST00000393331.3 - 7 861 c.391T>G c.(391-393)Tgg>Ggg p.W131G SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.W131G(2)|p.W131R(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTGAATCCCCAGTCTTTGCCT 0.458 Prostate(2;0.17) 39 85 --- --- --- --- ACTG1 71 broad.mit.edu 37 17 79478956 79478956 + Silent SNP G G A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr17:79478956G>A ENST00000575842.1 - 2 762 c.336C>T c.(334-336)ccC>ccT p.P112P ACTG1_ENST00000573283.1_Silent_p.P112P|ACTG1_ENST00000575087.1_Silent_p.P112P|ACTG1_ENST00000331925.2_Silent_p.P112P P63261 ACTG_HUMAN actin, gamma 1 112 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) TGTTGGCCTTGGGGTTCAGGG 0.622 19 38 --- --- --- --- CATSPERD 257062 broad.mit.edu 37 19 5751816 5751816 + Silent SNP C C G TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr19:5751816C>G ENST00000381624.3 + 12 1207 c.1146C>G c.(1144-1146)ctC>ctG p.L382L CATSPERD_ENST00000381614.2_Silent_p.L40L NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 382 integral to membrane ACCCTGAACTCCACGTTGGAA 0.468 9 57 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9086501 9086501 + Missense_Mutation SNP C C T TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr19:9086501C>T ENST00000397910.4 - 1 5517 c.5314G>A c.(5314-5316)Gag>Aag p.E1772K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1772 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGTGACCTCCTTGGTCCAA 0.493 25 57 --- --- --- --- SIPA1L3 23094 broad.mit.edu 37 19 38610375 38610375 + Silent SNP G G A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr19:38610375G>A ENST00000222345.6 + 9 3230 c.2721G>A c.(2719-2721)gtG>gtA p.V907V NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 907 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCAAGGAGGTGGTGTTCAACT 0.542 6 98 --- --- --- --- ZNF836 162962 broad.mit.edu 37 19 52658800 52658800 + Silent SNP A A G TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr19:52658800A>G ENST00000322146.8 - 5 2657 c.2136T>C c.(2134-2136)taT>taC p.Y712Y CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.Y712Y NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GATTTCTGTGATATCTTGCAA 0.398 7 56 --- --- --- --- PLCB4 5332 broad.mit.edu 37 20 9388600 9388600 + Missense_Mutation SNP G G T TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr20:9388600G>T ENST00000378501.2 + 18 1663 c.1648G>T c.(1648-1650)Gca>Tca p.A550S PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.A550S|PLCB4_ENST00000414679.2_Missense_Mutation_p.A562S|PLCB4_ENST00000334005.3_Missense_Mutation_p.A550S|PLCB4_ENST00000278655.4_Missense_Mutation_p.A550S|PLCB4_ENST00000378473.3_Missense_Mutation_p.A562S NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 550 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GGCGTGGATGGCATCTTATAA 0.448 26 96 --- --- --- --- SSX5 6758 broad.mit.edu 37 X 48053626 48053626 + Silent SNP A A G TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chrX:48053626A>G ENST00000311798.1 - 5 394 c.342T>C c.(340-342)aaT>aaC p.N114N SSX5_ENST00000347757.1_Silent_p.N73N|SSX5_ENST00000376923.1_Silent_p.N73N NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 73 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 CGACCCGTTTATTACGCATGA 0.483 27 25 --- --- --- --- ATP7A 538 broad.mit.edu 37 X 77264645 77264645 + Missense_Mutation SNP G G A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chrX:77264645G>A ENST00000341514.6 + 7 1909 c.1754G>A c.(1753-1755)aGt>aAt p.S585N ATP7A_ENST00000343533.5_Missense_Mutation_p.S585N|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.4 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 585 HMA 6. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 ATAGAGTCTAGTCTCACAAAA 0.408 5 142 --- --- --- --- GPR112 139378 broad.mit.edu 37 X 135426829 135426829 + Missense_Mutation SNP T T A TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chrX:135426829T>A ENST00000394143.1 + 6 1255 c.964T>A c.(964-966)Tca>Aca p.S322T GPR112_ENST00000412101.1_Missense_Mutation_p.S117T|GPR112_ENST00000287534.4_Missense_Mutation_p.S259T|GPR112_ENST00000370652.1_Missense_Mutation_p.S322T|GPR112_ENST00000394141.1_Missense_Mutation_p.S117T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 322 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATCAACTTCATCAGCCATCTC 0.383 23 22 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61834099 61834099 + Frame_Shift_Del DEL A A - TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr10:61834099delA ENST00000280772.2 - 37 6731 c.6540delT c.(6538-6540)gctfs p.A2180fs ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GAACATCCCCAGCTGAGGGAT 0.463 10 134 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118374348 118374348 + Frame_Shift_Del DEL A A - TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b01429d0-5689-4988-9b04-c5c9173cc5a5 ce7b01a1-f923-4ed8-a350-eaf02a60ac73 g.chr11:118374348delA ENST00000534358.1 + 27 7764 c.7741delA c.(7741-7743)accfs p.T2581fs KMT2A_ENST00000389506.5_Frame_Shift_Del_p.T2578fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T2540fs NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CCCCAATAATACCTCATGCCA 0.478 11 35 --- --- --- ---