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 GOLT1A 127845 broad.mit.edu 37 1 204170816 204170816 + Missense_Mutation SNP G G A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr1:204170816G>A ENST00000308302.3 - 3 426 c.241C>T c.(241-243)Cgc>Tgc p.R81C GOLT1A_ENST00000475517.1_5'UTR NM_198447.1 NP_940849.1 Q6ZVE7 GOT1A_HUMAN golgi transport 1A 81 protein transport|vesicle-mediated transport Golgi membrane|integral to membrane kidney(1)|lung(2)|urinary_tract(1) 4 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) AGGGGCCAGCGTAGGAGCACG 0.532000 6 141 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 4 121 0 0 1 0 0 TXNDC16 57544 broad.mit.edu 37 14 52936858 52936858 + Silent SNP C C G TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr14:52936858C>G ENST00000281741.4 - 16 1886 c.1515G>C c.(1513-1515)tcG>tcC p.S505S TXNDC16_ENST00000554399.1_Intron NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 505 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) CTTCTTGGATCGATGTTATAT 0.289000 5 40 0 0 1 0 0 GOLGA6L7P 0 broad.mit.edu 37 15 29092234 29092234 + RNA SNP C C A rs150917533 by1000genomes TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr15:29092234C>A ENST00000569815.1 - 0 281 NR_047567.1 GGCAGCCCCCCGAAGTGGTTG 0.542000 4 18 1.58986e-06 1.90784e-06 1 1 0 SH2B3 10019 broad.mit.edu 37 12 111885274 111885274 + Missense_Mutation SNP G G A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr12:111885274G>A ENST00000341259.2 + 6 1519 c.1162G>A c.(1162-1164)Gtg>Atg p.V388M SH2B3_ENST00000538307.1_Missense_Mutation_p.V186M NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 388 SH2. blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 TGCTCATGGAGTGTTCCTGGT 0.612000 31 126 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 5 108 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33679579 33679579 + Missense_Mutation SNP C C A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr17:33679579C>A ENST00000394566.1 - 7 2774 c.2502G>T c.(2500-2502)agG>agT p.R834S SLFN11_ENST00000308377.4_Missense_Mutation_p.R834S NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 834 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCTGCACCACCCTTTTCTTCC 0.473000 7 134 8.12818e-05 9.48288e-05 1 1 0 DNAJC22 79962 broad.mit.edu 37 12 49743299 49743299 + Missense_Mutation SNP T T C TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr12:49743299T>C ENST00000549441.2 + 3 1848 c.644T>C c.(643-645)tTt>tCt p.F215S DNAJC22_ENST00000395069.3_Missense_Mutation_p.F215S Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 215 protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 GCAGAAACCTTTGGCTCCTTC 0.552000 5 184 0 0 1 0 0 NPHS2 7827 broad.mit.edu 37 1 179526351 179526351 + Silent SNP G G A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr1:179526351G>A ENST00000367615.4 - 5 617 c.549C>T c.(547-549)gaC>gaT p.D183D NPHS2_ENST00000367616.4_Intron NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 183 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 TTATAAACATGTCTTTGGTCA 0.418000 12 35 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89128918 89128918 + Silent SNP T T G TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr8:89128918T>G ENST00000286614.6 - 6 1182 c.901A>C c.(901-903)Aga>Cga p.R301R MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 301 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding p.R301*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 GGTAGAGGTCTTGTAGGTGGA 0.512000 6 167 0 0 1 0 0 GPR132 29933 broad.mit.edu 37 14 105518068 105518068 + Missense_Mutation SNP T T A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr14:105518068T>A ENST00000329797.3 - 4 1317 c.406A>T c.(406-408)Atc>Ttc p.I136F GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.I136F|GPR132_ENST00000392585.2_Missense_Mutation_p.I127F NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 136 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) TCGCAGGAGATGCAGCACAGG 0.642000 21 166 0 0 1 0 0 IGHV1OR21-1 0 broad.mit.edu 37 21 10862665 10862665 + RNA SNP C C T TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr21:10862665C>T ENST00000559480.1 + 0 44 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GTCATAGCTGCGGGTAGGATA 0.522000 25 378 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233671240 233671240 + Missense_Mutation SNP C C T TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr2:233671240C>T ENST00000373566.3 + 16 1942 c.1745C>T c.(1744-1746)gCg>gTg p.A582V GIGYF2_ENST00000409480.1_Missense_Mutation_p.A582V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.A560V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A581V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.A554V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A560V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A391V Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 560 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TGGTTTCAGGCGGGCTATTTT 0.403000 4 142 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 3 22 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27381415 27381415 + Silent SNP T T A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr10:27381415T>A ENST00000376087.4 - 4 723 c.558A>T c.(556-558)gcA>gcT p.A186A ANKRD26_ENST00000436985.2_Silent_p.A186A NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 186 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TTCCACTTACTGCAAGTAAAA 0.338000 7 30 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1394066 1394066 + Nonsense_Mutation SNP G G T TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr3:1394066G>T ENST00000446702.2 + 12 2050 c.1423G>T c.(1423-1425)Gga>Tga p.G475* CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G475*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G403* Q9UQ52 CNTN6_HUMAN contactin 6 475 Ig-like C2-type 5. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GTCAGATGCTGGATCATATAC 0.358000 6 38 0.00116845 0.00129144 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 4 21 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237608788 237608788 + Missense_Mutation SNP C C T TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr1:237608788C>T ENST00000366574.2 + 14 1575 c.1258C>T c.(1258-1260)Cgg>Tgg p.R420W RYR2_ENST00000542537.1_Missense_Mutation_p.R404W|RYR2_ENST00000360064.6_Missense_Mutation_p.R418W NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 420 R -> W (in CPVT1). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCGAGTTATCCGGAGCACAGT 0.388000 13 39 0 0 1 0 0 LIMD2 80774 broad.mit.edu 37 17 61776290 61776290 + Silent SNP G G A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr17:61776290G>A ENST00000259006.3 - 4 251 c.93C>T c.(91-93)agC>agT p.S31S LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578061.1_Silent_p.S31S|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000578402.1_Silent_p.S31S NM_030576.3 NP_085053.1 Q9BT23 LIMD2_HUMAN LIM domain containing 2 31 zinc ion binding kidney(1)|lung(2) 3 GGGCCCGCAGGCTGAAGGACT 0.662000 5 93 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228437915 228437915 + Missense_Mutation SNP G G A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr1:228437915G>A ENST00000570156.2 + 15 4633 c.4559G>A c.(4558-4560)cGg>cAg p.R1520Q OBSCN_ENST00000422127.1_Missense_Mutation_p.R1428Q|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1428Q|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 498 Ig-like 15. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGGGCCAGCGGCTCTCCTTC 0.637000 9 161 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135206227 135206227 + Missense_Mutation SNP G G T TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr2:135206227G>T ENST00000409645.1 + 17 2287 c.2035G>T c.(2035-2037)Gtg>Ttg p.V679L MGAT5_ENST00000281923.2_Missense_Mutation_p.V679L Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 679 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) CAGGTACAAGGTGACCTGCCA 0.542000 5 223 1.024e-07 1.26494e-07 1 1 0 TUSC1 286319 broad.mit.edu 37 9 25678100 25678100 + Nonsense_Mutation SNP C C A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr9:25678100C>A ENST00000358022.3 - 1 756 c.220G>T c.(220-222)Gag>Tag p.E74* NM_001004125.2 NP_001004125.1 Q2TAM9 TUSC1_HUMAN tumor suppressor candidate 1 74 kidney(1) 1 all_hematologic(1;0.197) all_neural(3;5.42e-18)|Glioma(3;5.54e-17) GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11) CGGATGGCCTCCAAGTGGCTC 0.761000 3 5 1 1 1 1 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 78 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37879658 37879658 + Missense_Mutation SNP G G A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr17:37879658G>A ENST00000406381.2 + 19 2453 c.1943G>A c.(1942-1944)cGg>cAg p.R648Q ERBB2_ENST00000541774.1_Missense_Mutation_p.R663Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R402Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R678Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R678Q NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 678 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ATCAAGCGACGGCAGCAGAAG 0.637000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 39 76 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112632752 112632752 + Missense_Mutation SNP G G A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr12:112632752G>A ENST00000550722.1 - 56 8643 c.8248C>T c.(8248-8250)Cgg>Tgg p.R2750W HECTD4_ENST00000430131.2_Missense_Mutation_p.R2474W|HECTD4_ENST00000377560.5_Missense_Mutation_p.R2724W NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GTAATGTCCCGGATGGCAGGG 0.577000 4 14 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44071948 44071948 + Missense_Mutation SNP G G A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr1:44071948G>A ENST00000359947.4 + 20 3861 c.3521G>A c.(3520-3522)cGg>cAg p.R1174Q PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1174 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGGAGCAGCGGCGGCGGCGG 0.632000 5 156 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148012531 148012531 + Silent SNP C C T TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr1:148012531C>T ENST00000369219.1 - 12 1444 c.1428G>A c.(1426-1428)aaG>aaA p.K476K Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 476 NBPF 5. cytoplasm p.K476K(2)|p.K476N(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGCCAACATGCTTTTCCTCCA 0.443000 3 3 0 0 1 0 0 SRRM5 100170229 broad.mit.edu 37 19 44118391 44118391 + Missense_Mutation SNP G G T TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr19:44118391G>T ENST00000526798.1 + 3 2440 c.2163G>T c.(2161-2163)agG>agT p.R721S SRRM5_ENST00000607544.1_Missense_Mutation_p.R706S|SRRM5_ENST00000417606.1_Missense_Mutation_p.R706S|ZNF428_ENST00000300811.3_Missense_Mutation_p.D22E B3KS81 SRRM5_HUMAN serine/arginine repetitive matrix 5 706 endometrium(11)|kidney(2)|skin(1)|stomach(1) 15 CTGGGGAAAGGTCTTCATCAT 0.597000 10 55 0.010729 0.0115543 1 1 0 DIRAS3 9077 broad.mit.edu 37 1 68512452 68512452 + Missense_Mutation SNP A A C TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr1:68512452A>C ENST00000370981.1 - 4 1165 c.529T>G c.(529-531)Ttc>Gtc p.F177V GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.F177V O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 177 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 ATCTCCATGAAGGCGCAATTC 0.547000 14 116 0 0 1 0 0 BBOX1 8424 broad.mit.edu 37 11 27077078 27077078 + Nonsense_Mutation SNP T T A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr11:27077078T>A ENST00000263182.3 + 3 469 c.101T>A c.(100-102)tTg>tAg p.L34* BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000528583.1_Nonsense_Mutation_p.L34*|BBOX1_ENST00000529202.1_Nonsense_Mutation_p.L34*|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Nonsense_Mutation_p.L34* NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 34 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) GCTGTATGGTTGAGAGACAAC 0.473000 15 50 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 5 105 0 0 1 0 0 ADORA2A 135 broad.mit.edu 37 22 24837228 24837228 + Missense_Mutation SNP G G A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr22:24837228G>A ENST00000337539.7 + 3 1469 c.1010G>A c.(1009-1011)cGt>cAt p.R337H ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1 NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1 P29274 AA2AR_HUMAN adenosine A2a receptor 337 apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1) 21 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) GTCAGCCTCCGTCTCAACGGC 0.662000 6 21 0 0 1 0 0 RP11-431K24.1 0 broad.mit.edu 37 1 8117966 8117966 + RNA DEL T T - TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr1:8117966delT ENST00000445300.1 + 0 815 GTGAGGTCCCTTTTGGGCTGG 0.498 7 3 --- --- --- --- ST8SIA4 7903 broad.mit.edu 37 5 100222192 100222193 + Frame_Shift_Ins INS - - G TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr5:100222192_100222193insG ENST00000231461.5 - 3 667_668 c.357_358insC c.(355-360)aatttcfs p.NF119fs ST8SIA4_ENST00000451528.2_Frame_Shift_Ins_p.NF119fs|ST8SIA4_ENST00000507360.2_5'UTR NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 119 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TCATGAGAAATGTTTAGTGTCC 0.436 29 130 --- --- --- --- RADIL 55698 broad.mit.edu 37 7 4843355 4843355 + Frame_Shift_Del DEL G G - TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr7:4843355delG ENST00000399583.3 - 11 2508 c.2321delC c.(2320-2322)cafs p.P775fs RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Frame_Shift_Del_p.P535fs NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 775 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GACGATGGGTGGGGGGTTTTC 0.632 2 4 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 4 8 --- --- --- --- USP28 57646 broad.mit.edu 37 11 113683078 113683079 + In_Frame_Ins INS - - GAA rs142728209 TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr11:113683078_113683079insGAA ENST00000003302.4 - 16 1959_1960 c.1891_1892insTTC c.(1891-1893)aga>TTCaga p.630_631insF USP28_ENST00000545540.1_In_Frame_Ins_p.505_506insF|USP28_ENST00000544967.1_In_Frame_Ins_p.338_339insF|USP28_ENST00000260188.5_In_Frame_Ins_p.630_631insF NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 630 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ATAGGAATCTCTTTCAACTTCT 0.416 7 100 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546320 11546322 + In_Frame_Del DEL TTG TTG - TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr12:11546320_11546322delTTG ENST00000389362.4 - 3 725_727 c.690_692delCAA c.(688-693)aag>aa p.NK230del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTTGGGACTTGTTGTCTCCTT 0.601 8 600 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0045d518-7b93-44b2-bb7b-dc11c85b3c93 e0bbf450-eb07-4a04-bfb5-5d1a5e885209 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 9 --- --- --- ---