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 NADK 65220 broad.mit.edu 37 1 1688005 1688005 + Missense_Mutation SNP G G A rs147892956 byFrequency TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr1:1688005G>A ENST00000344463.4 - 7 1092 c.871C>T c.(871-873)Cct>Tct p.P291S NADK_ENST00000341991.3_Missense_Mutation_p.P146S|NADK_ENST00000341426.5_Missense_Mutation_p.P146S|NADK_ENST00000378625.1_Missense_Mutation_p.P291S|NADK_ENST00000342348.5_Missense_Mutation_p.P114S O95544 NADK_HUMAN NAD kinase 146 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) GCGATGGCAGGGTCTTCTAGC 0.527 3 31 --- --- --- --- PADI3 51702 broad.mit.edu 37 1 17599873 17599873 + Missense_Mutation SNP G G C TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr1:17599873G>C ENST00000375460.3 + 10 1126 c.1086G>C c.(1084-1086)aaG>aaC p.K362N NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 362 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CGCCGCACAAGACCCTCCCGG 0.602 8 25 --- --- --- --- SLC44A5 204962 broad.mit.edu 37 1 75805314 75805314 + Splice_Site SNP A A G TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr1:75805314A>G ENST00000370855.5 - 4 167 c.54T>C c.(52-54)ggT>ggC p.G18G SLC44A5_ENST00000370859.3_Splice_Site_p.G18G|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 18 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TCCTTGGATCACCTGCATTTA 0.323 42 156 --- --- --- --- LRRTM1 347730 broad.mit.edu 37 2 80530543 80530543 + Silent SNP C C T TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr2:80530543C>T ENST00000295057.3 - 2 1058 c.402G>A c.(400-402)cgG>cgA p.R134R CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 134 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 TGGGCATGGGCCGGAAGGTGG 0.622 HNSCC(69;0.2) 40 58 --- --- --- --- ZEB2 9839 broad.mit.edu 37 2 145156431 145156431 + Silent SNP A A G TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr2:145156431A>G ENST00000558170.2 - 8 3507 c.2323T>C c.(2323-2325)Ttg>Ctg p.L775L ZEB2_ENST00000409487.3_Silent_p.L775L|ZEB2_ENST00000303660.4_Silent_p.L775L|ZEB2_ENST00000539609.3_Silent_p.L751L NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 775 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GAGTGGTCCAATTTTTCAACT 0.403 46 154 --- --- --- --- C2orf80 389073 broad.mit.edu 37 2 209036736 209036736 + Missense_Mutation SNP C C A TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr2:209036736C>A ENST00000341287.4 - 7 625 c.430G>T c.(430-432)Gca>Tca p.A144S C2orf80_ENST00000451346.1_Missense_Mutation_p.A125S|C2orf80_ENST00000453017.1_Intron NM_001099334.2 NP_001092804 Q0P641 CB080_HUMAN chromosome 2 open reading frame 80 144 endometrium(2)|large_intestine(3)|lung(6)|skin(2) 13 TATGCTGCTGCTTTGGGTGCT 0.463 55 154 --- --- --- --- GNAI2 2771 broad.mit.edu 37 3 50289913 50289913 + Missense_Mutation SNP G G C TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr3:50289913G>C ENST00000313601.6 + 3 630 c.246G>C c.(244-246)atG>atC p.M82I GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I|GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.M30I NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 82 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) AGTCCATCATGGCCATTGTCA 0.597 19 32 --- --- --- --- NNT 23530 broad.mit.edu 37 5 43624173 43624173 + Missense_Mutation SNP G G A TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr5:43624173G>A ENST00000264663.5 + 6 948 c.727G>A c.(727-729)Gca>Aca p.A243T NNT_ENST00000512996.2_Missense_Mutation_p.A112T|NNT_ENST00000344920.4_Missense_Mutation_p.A243T NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 243 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GCTTGCTTCTGCAGGCGCAGC 0.413 89 141 --- --- --- --- KIF13A 63971 broad.mit.edu 37 6 17828567 17828567 + Missense_Mutation SNP T T C TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr6:17828567T>C ENST00000378814.5 - 14 1435 c.1436A>G c.(1435-1437)gAt>gGt p.D479G KIF13A_ENST00000378826.2_Missense_Mutation_p.D479G|KIF13A_ENST00000259711.6_Missense_Mutation_p.D479G|KIF13A_ENST00000378816.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378843.2_Missense_Mutation_p.D479G NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 479 FHA. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) AAGCTGGATATCTTGAGAGGT 0.403 10 9 --- --- --- --- AP5Z1 9907 broad.mit.edu 37 7 4824568 4824568 + Missense_Mutation SNP C C G TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr7:4824568C>G ENST00000348624.4 + 7 914 c.820C>G c.(820-822)Ctg>Gtg p.L274V AP5Z1_ENST00000401897.1_Missense_Mutation_p.L274V NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 274 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding GGGCTCCACTCTGTCGGTGAT 0.677 5 13 --- --- --- --- ZNF716 441234 broad.mit.edu 37 7 57528490 57528490 + Missense_Mutation SNP A A T TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr7:57528490A>T ENST00000420713.1 + 4 435 c.323A>T c.(322-324)cAa>cTa p.Q108L NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 GATTCACTCCAAAAAGTGATA 0.383 8 28 --- --- --- --- NUP205 23165 broad.mit.edu 37 7 135282771 135282771 + Missense_Mutation SNP G G A TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr7:135282771G>A ENST00000285968.6 + 15 2116 c.2090G>A c.(2089-2091)cGg>cAg p.R697Q NUP205_ENST00000440390.2_3'UTR NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 697 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 ATAGAATCCCGGTGTGAAGAA 0.403 38 159 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74601015 74601015 + Missense_Mutation SNP T T C TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr8:74601015T>C ENST00000355780.5 - 4 270 c.52A>G c.(52-54)Aca>Gca p.T18A STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|STAU2_ENST00000522695.1_Missense_Mutation_p.T18A|STAU2_ENST00000521419.1_Missense_Mutation_p.T12A|STAU2_ENST00000521451.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 50 DRBM 1. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) GATTCCCATGTCTGCTCACCA 0.418 52 174 --- --- --- --- ST3GAL1 6482 broad.mit.edu 37 8 134488066 134488066 + Missense_Mutation SNP G G A TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr8:134488066G>A ENST00000319914.5 - 4 1229 c.202C>T c.(202-204)Cgc>Tgc p.R68C ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 68 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) GAGAGCTTGCGCTGCCCGATG 0.612 18 85 --- --- --- --- FAM196A 642938 broad.mit.edu 37 10 128973673 128973673 + Silent SNP C C T TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr10:128973673C>T ENST00000522781.1 - 4 1542 c.987G>A c.(985-987)ccG>ccA p.P329P DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P329P NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 329 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TCCCCAGCCCCGGCGGGGTGT 0.632 55 67 --- --- --- --- CERS5 91012 broad.mit.edu 37 12 50536935 50536935 + Missense_Mutation SNP A A G TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr12:50536935A>G ENST00000317551.6 - 3 480 c.356T>C c.(355-357)gTc>gCc p.V119A CERS5_ENST00000422340.2_Missense_Mutation_p.V61A NM_147190.2 NP_671723.1 Q8N5B7 CERS5_HUMAN ceramide synthase 5 119 ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GATTTTTCGGACATTCCAATC 0.493 83 136 --- --- --- --- MYCBP2 23077 broad.mit.edu 37 13 77853046 77853046 + Splice_Site SNP T T C TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr13:77853046T>C ENST00000407578.2 - 4 861 c.595A>G c.(595-597)Att>Gtt p.I199V MYCBP2_ENST00000357337.6_Splice_Site_p.I161V|MYCBP2_ENST00000544440.2_Splice_Site_p.I161V|MYCBP2_ENST00000360084.5_5'UTR NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ACCTCAATAATCTATTTAAAA 0.358 10 25 --- --- --- --- NOP9 161424 broad.mit.edu 37 14 24769365 24769365 + Silent SNP C C T TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr14:24769365C>T ENST00000267425.3 + 1 298 c.205C>T c.(205-207)Ctg>Ttg p.L69L NOP9_ENST00000396802.3_Silent_p.L69L NM_174913.1 NP_777573.1 NOP9 nucleolar protein CCGCCGGGCGCTGTCAGCATT 0.617 42 87 --- --- --- --- ACACA 31 broad.mit.edu 37 17 35479506 35479506 + Missense_Mutation SNP T T C TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr17:35479506T>C ENST00000353139.5 - 49 6566 c.6085A>G c.(6085-6087)Aca>Gca p.T2029A ACACA_ENST00000394406.2_Missense_Mutation_p.T1992A|ACACA_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1992 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) AGTTCTACTGTTCGGGTTTCT 0.463 20 73 --- --- --- --- PRKAR1A 5573 broad.mit.edu 37 17 66519943 66519943 + Silent SNP T T C rs3730371 TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr17:66519943T>C ENST00000589228.1 + 4 554 c.426T>C c.(424-426)gaT>gaC p.D142D PRKAR1A_ENST00000588188.2_Silent_p.D142D|PRKAR1A_ENST00000536854.2_Silent_p.D142D|PRKAR1A_ENST00000358598.2_Silent_p.D142D|PRKAR1A_ENST00000586397.1_Silent_p.D142D|PRKAR1A_ENST00000392711.1_Silent_p.D142D NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha 142 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) CACATCTTGATGATAATGAGA 0.368 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 12 21 --- --- --- --- ZNF236 7776 broad.mit.edu 37 18 74620423 74620423 + Silent SNP A A G TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr18:74620423A>G ENST00000253159.8 + 14 2637 c.2439A>G c.(2437-2439)gcA>gcG p.A813A ZNF236_ENST00000320610.9_Silent_p.A815A NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 813 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AGGTGGTCGCAGCGAACCCCG 0.632 40 39 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43439764 43439764 + RNA SNP G G A TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr19:43439764G>A ENST00000446844.3 - 0 311 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) AATGGTAGAGGTCCCTGATTT 0.423 48 152 --- --- --- --- CACNG7 59284 broad.mit.edu 37 19 54444869 54444869 + Splice_Site SNP G G A TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr19:54444869G>A ENST00000391767.1 + 5 782 c.570G>A c.(568-570)gaG>gaA p.E190E CACNG7_ENST00000391766.1_Silent_p.E190E|CACNG7_ENST00000222212.2_Splice_Site_p.E190E P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 190 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) TACTCAAAGAGGTGACGTCCG 0.552 4 77 --- --- --- --- KBTBD7 84078 broad.mit.edu 37 13 41767137 41767137 + Frame_Shift_Del DEL T T - TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf6e6dd2-52d7-488b-8552-3e174d19744f d4794705-4c1b-44dc-9a70-ee6671ee7c62 g.chr13:41767137delT ENST00000379483.3 - 1 1565 c.1257delA c.(1255-1257)gcafs p.A419fs NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 419 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GCAAGCGATCTGCAAGTTGCT 0.498 20 83 --- --- --- ---