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 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 0.617000 42 87 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220162005 220162005 + Missense_Mutation 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.chr2:220162005C>T ENST00000295718.2 - 14 2278 c.2038G>A c.(2038-2040)Gag>Aag p.E680K PTPRN_ENST00000423636.2_Missense_Mutation_p.E590K|PTPRN_ENST00000409251.3_Missense_Mutation_p.E651K NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 680 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GCCGGCTCCTCGCACCAGGAC 0.652000 25 20 0 0 1 0 0 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.594_splice c.e4-1 p.I199_splice MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Splice_Site_p.I161_splice|MYCBP2_ENST00000357337.6_Splice_Site_p.I161_splice 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 0.358000 10 25 0 0 1 0 0 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 0.632000 40 39 0 0 1 0 0 RAD52 5893 broad.mit.edu 37 12 1025570 1025570 + 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.chr12:1025570G>A ENST00000358495.3 - 9 943 c.805C>T c.(805-807)Cgg>Tgg p.R269W RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.R192W|RAD52_ENST00000430095.2_Missense_Mutation_p.R269W|RAD52_ENST00000536177.1_Missense_Mutation_p.P286L NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 269 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) atccgctcccggaactgctgc 0.677000 Homologous recombination 3 21 0 0 1 0 0 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 0.677000 5 13 0 0 1 0 0 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.570_splice c.e5+1 p.E190_splice CACNG7_ENST00000391766.1_Silent_p.E190E|CACNG7_ENST00000222212.2_Splice_Site_p.E190_splice 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 0.552000 4 77 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78320681 78320681 + Missense_Mutation 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.chr17:78320681C>T ENST00000582970.1 + 29 8689 c.8546C>T c.(8545-8547)gCg>gTg p.A2849V RNF213_ENST00000336301.6_Missense_Mutation_p.A922V|RNF213_ENST00000508628.2_Missense_Mutation_p.A2898V NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GTGGGGCTGGCGGAAGACTCA 0.602000 11 35 0 0 1 0 0 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 FAM196A_ENST00000424811.2_Silent_p.P329P|DOCK1_ENST00000280333.6_Intron 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 0.632000 55 67 0 0 1 0 0 CRYGA 1418 broad.mit.edu 37 2 209027941 209027941 + Missense_Mutation SNP C C T rs139353014 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.chr2:209027941C>T ENST00000304502.4 - 2 258 c.239G>A c.(238-240)cGt>cAt p.R80H NM_014617.3 NP_055432.2 crystallin, gamma A endometrium(1)|kidney(3)|large_intestine(1)|lung(7) 12 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) AGGAATTATACGGCAGGATTG 0.498000 32 27 0 0 1 0 0 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_ENST00000539609.3_Silent_p.L751L|ZEB2_ENST00000303660.4_Silent_p.L775L|ZEB2_ENST00000409487.3_Silent_p.L775L 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 0.403000 46 154 0 0 1 0 0 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_ENST00000259711.6_Missense_Mutation_p.D479G|KIF13A_ENST00000378816.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378826.2_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 0.403000 10 9 0 0 1 0 0 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 0.602000 8 25 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54957661 54957661 + 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.chrX:54957661C>G ENST00000319167.8 + 13 2123 c.2011C>G c.(2011-2013)Ccg>Gcg p.P671A TRO_ENST00000399736.1_Missense_Mutation_p.P274A|TRO_ENST00000375041.2_3'UTR|TRO_ENST00000420798.2_3'UTR|TRO_ENST00000375022.4_Missense_Mutation_p.P671A|TRO_ENST00000173898.7_3'UTR NM_016157.2 NP_057241.2 Q12816 TROP_HUMAN trophinin 0 embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 TTTACAGATACCGCTAATAAA 0.413000 16 9 0 0 1 0 0 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 0.612000 18 85 0 0 1 0 0 PSG8 0 broad.mit.edu 37 19 43268388 43268388 + Missense_Mutation SNP G G A rs142689447 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.chr19:43268388G>A ENST00000404209.4 - 2 206 c.110C>T c.(109-111)aCg>aTg p.T37M PSG8_ENST00000306511.4_Missense_Mutation_p.T37M|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.T37M NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 37 Ig-like V-type. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGCTTCAATCGTGACTTGGGC 0.463000 38 97 0 0 1 0 0 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_ENST00000342348.5_Missense_Mutation_p.P114S|NADK_ENST00000378625.1_Missense_Mutation_p.P291S|NADK_ENST00000341426.5_Missense_Mutation_p.P146S|NADK_ENST00000341991.3_Missense_Mutation_p.P146S 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 0.527000 3 31 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023051 18023051 + 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.chr17:18023051G>A ENST00000205890.5 + 2 1275 c.937G>A c.(937-939)Gaa>Aaa p.E313K NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 313 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity p.E313K(1) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CGACGATTACGAACCCCCATA 0.612000 24 47 0 0 1 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260826 30260826 + Missense_Mutation SNP G G 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.chrX:30260826G>T ENST00000378982.2 + 1 770 c.574G>T c.(574-576)Gcc>Tcc p.A192S NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 192 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 CCAGAGCAGTGCCTGGACCCT 0.532000 4 9 0.150653 0.150653 1 1 0 LRP2 4036 broad.mit.edu 37 2 170068629 170068629 + Silent SNP G G A rs111909155 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.chr2:170068629G>A ENST00000263816.3 - 37 6414 c.6129C>T c.(6127-6129)tgC>tgT p.C2043C NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2043 EGF-like 8. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGGCACAGGCGCAGGAAAACA 0.448000 21 91 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124742974 124742974 + 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.chr11:124742974G>A ENST00000397801.1 + 9 1717 c.1525G>A c.(1525-1527)Gcc>Acc p.A509T ROBO3_ENST00000538940.1_Missense_Mutation_p.A487T NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 509 Ig-like C2-type 5. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CCTGTACATCGCCAATGTGCA 0.562000 6 27 0 0 1 0 0 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 0.383000 8 28 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3234976 3234976 + 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.chr4:3234976C>T ENST00000355072.5 + 61 8497 c.8352C>T c.(8350-8352)caC>caT p.H2784H HTT_ENST00000513806.1_Intron NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2784 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GAGCCCTGCACGGCGTCCTCT 0.637000 28 95 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25480341 25480341 + Missense_Mutation SNP C C T rs141856342 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.chr13:25480341C>T ENST00000381884.4 - 7 2020 c.1835G>A c.(1834-1836)cGg>cAg p.R612Q CENPJ_ENST00000545981.1_Missense_Mutation_p.R612Q NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 612 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GGAAGACATCCGGTGACCTTT 0.428000 9 31 0 0 1 0 0 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_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000394406.2_Missense_Mutation_p.T1992A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A|ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A 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 0.463000 20 73 0 0 1 0 0 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_ENST00000344920.4_Missense_Mutation_p.A243T|NNT_ENST00000512996.2_Missense_Mutation_p.A112T 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 0.413000 89 141 0 0 1 0 0 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 RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|STAU2_ENST00000523558.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000521419.1_Missense_Mutation_p.T12A|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000522695.1_Missense_Mutation_p.T18A|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000522962.1_5'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 0.418000 52 174 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135787209 135787209 + Silent 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.chr6:135787209G>A ENST00000367800.4 - 5 708 c.492C>T c.(490-492)ggC>ggT p.G164G AHI1_ENST00000327035.6_Silent_p.G164G|AHI1_ENST00000457866.2_Silent_p.G164G NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 164 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) GATGATCAACGCCTGGCTGTG 0.443000 19 43 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43701249 43701249 + Nonsense_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.chr15:43701249G>A ENST00000263801.3 - 26 5683 c.5431C>T c.(5431-5433)Cga>Tga p.R1811* TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.R1766*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.R1816*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.R1814* NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1811 BRCT 1. double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TTCCGGGTTCGACAATGCTGA 0.498000 Other conserved DNA damage response genes 7 40 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69092997 69092997 + Silent 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.chr2:69092997G>A ENST00000295379.1 - 2 1199 c.1041C>T c.(1039-1041)taC>taT p.Y347Y NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 347 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 CATAGGCTTCGTATCCAGGCG 0.517000 21 48 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790197 78790197 + 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.chr9:78790197C>G ENST00000376767.3 + 14 2564 c.2052C>G c.(2050-2052)atC>atG p.I684M PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatcgaatcgaatcgaatc 0.358000 3 2 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes 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.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 3 41 0 0 1 0 0 PRKCZ 5590 broad.mit.edu 37 1 2082320 2082320 + 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.chr1:2082320G>A ENST00000400921.2 + 6 913 c.230G>A c.(229-231)cGc>cAc p.R77H PRKCZ_ENST00000400920.1_Missense_Mutation_p.R77H|PRKCZ_ENST00000479263.1_3'UTR NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 260 OPR. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding p.R260H(1) breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) GTCATCGGGCGCGGGAGCTAC 0.512000 3 33 0 0 1 0 0 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.52_splice c.e4-1 p.G18_splice SLC44A5_ENST00000370859.3_Splice_Site_p.G18_splice|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 0.323000 42 156 0 0 1 0 0 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_ENST00000453017.1_Intron|C2orf80_ENST00000451346.1_Missense_Mutation_p.A125S NM_001099334.2 NP_001092804.1 Q0P641 CB080_HUMAN chromosome 2 open reading frame 80 144 endometrium(2)|large_intestine(3)|lung(6)|skin(2) 13 TATGCTGCTGCTTTGGGTGCT 0.463000 55 154 1.67886e-27 1.77762e-27 1 1 0 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_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_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 0.622000 HNSCC(69;0.2) 40 58 0 0 1 0 0 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 0.493000 83 136 0 0 1 0 0 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_ENST00000440628.1_Missense_Mutation_p.M30I|GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000491100.1_3'UTR 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 0.597000 19 32 0 0 1 0 0 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_055950.1 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 0.403000 38 159 0 0 1 0 0 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_ENST00000536854.2_Silent_p.D142D|PRKAR1A_ENST00000358598.2_Silent_p.D142D|PRKAR1A_ENST00000586397.1_Silent_p.D142D|PRKAR1A_ENST00000588188.2_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 0.368000 """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 0 0 1 0 0 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 ENST00000406070.2 - 0 318 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) AATGGTAGAGGTCCCTGATTT 0.423000 48 152 0 0 1 0 0 RP11-29H23.4 0 broad.mit.edu 37 1 155579904 155579905 + RNA DEL TC TC - 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.chr1:155579904_155579905delTC ENST00000456382.1 - 0 103 GCGCATCGTTTCTCCAATGGGA 0.634 9 7 --- --- --- --- NCKAP5 344148 broad.mit.edu 37 2 134275094 134275094 + Frame_Shift_Del DEL C 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.chr2:134275094delC ENST00000409261.1 - 3 377 c.4delG c.(4-6)agfs p.E2fs NCKAP5_ENST00000405974.3_Frame_Shift_Del_p.E2fs|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.E2fs|NCKAP5_ENST00000409213.1_Frame_Shift_Del_p.E2fs NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 2 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CTCTTTCCCTCCATGGATGAA 0.378 2 4 --- --- --- --- LEPREL1 55214 broad.mit.edu 37 3 189838441 189838441 + Frame_Shift_Del DEL G 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.chr3:189838441delG ENST00000319332.5 - 1 277 c.80delC c.(79-81)cgfs p.P27fs LEPREL1_ENST00000427335.2_Intron NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 27 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TGGGCTGTCCGGGGGGCCGCC 0.746 2 4 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG 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.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 8 --- --- --- --- 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)gcfs 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 --- --- --- ---