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 RPAP3 79657 broad.mit.edu 37 12 48063934 48063934 + Silent SNP T T C TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr12:48063934T>C ENST00000005386.3 - 13 1597 c.1482A>G c.(1480-1482)gcA>gcG p.A494A RPAP3_ENST00000380650.4_Silent_p.A460A|RPAP3_ENST00000432584.3_Silent_p.A335A NM_024604.2 NP_078880.2 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 494 binding endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Lung SC(27;0.192) TCAATACTTTTGCTCTTGGAG 0.383000 35 77 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34923110 34923110 + Missense_Mutation SNP C C T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr21:34923110C>T ENST00000356577.4 + 3 2048 c.1573C>T c.(1573-1575)Cct>Tct p.P525S SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P525S|SON_ENST00000290239.6_Missense_Mutation_p.P525S|SON_ENST00000300278.4_Missense_Mutation_p.P525S NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 525 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 GGTGGAACATCCTGGGCATCC 0.597000 49 98 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21825473 21825473 + RNA SNP C C A TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr17:21825473C>A ENST00000426869.3 + 0 177 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) cgtctccggacgccaggacct 0.652000 20 26 2.4624e-09 2.70263e-09 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 5 119 0 0 1 0 0 NCR3 259197 broad.mit.edu 37 6 31556919 31556919 + Silent SNP C C T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr6:31556919C>T ENST00000340027.5 - 4 794 c.531G>A c.(529-531)ccG>ccA p.P177P NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_3'UTR NM_147130.2 NP_667341.1 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 177 cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2) 9 GGACCACAGCCGGCAGCTGCC 0.582000 4 8 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47870232 47870232 + Missense_Mutation SNP G G A TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr20:47870232G>A ENST00000396105.1 - 11 3322 c.3076C>T c.(3076-3078)Cac>Tac p.H1026Y ZNFX1_ENST00000371754.4_Missense_Mutation_p.H1026Y|ZNFX1_ENST00000371752.1_Missense_Mutation_p.H1026Y NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1026 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AAAATGAGGTGCTGGCAAGCT 0.542000 44 94 0 0 1 0 0 STAR 6770 broad.mit.edu 37 8 38006211 38006211 + Silent SNP G G A TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr8:38006211G>A ENST00000276449.4 - 2 572 c.126C>T c.(124-126)ggC>ggT p.G42G NM_000349.2 NP_000340.2 P49675 STAR_HUMAN steroidogenic acute regulatory protein 42 C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity p.T44fs*3(1) breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) TAGGGGTGGGGCCCCCCAGGG 0.627000 18 44 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8394606 8394606 + Silent SNP C C G TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr18:8394606C>G ENST00000332175.8 + 30 5339 c.4302C>G c.(4300-4302)ctC>ctG p.L1434L PTPRM_ENST00000444013.1_Silent_p.L1221L|PTPRM_ENST00000400053.4_Silent_p.L1372L|PTPRM_ENST00000400060.4_Silent_p.L1448L|PTPRM_ENST00000580170.1_Silent_p.L1447L NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1434 Tyrosine-protein phosphatase 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) TGGTCGACCTCCTGGTAGGAC 0.527000 8 22 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 6 38 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121154999 121154999 + Silent SNP G G T rs147692745 byFrequency TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr3:121154999G>T ENST00000264233.5 - 28 7641 c.7513C>A c.(7513-7515)Cga>Aga p.R2505R NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2505 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ATACCCTCTCGATGACCATGG 0.403000 DNA polymerases (catalytic subunits) 19 59 1.01871e-10 1.17544e-10 1 1 0 SPTBN2 6712 broad.mit.edu 37 11 66455772 66455772 + Missense_Mutation SNP C C T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr11:66455772C>T ENST00000533211.1 - 32 6573 c.6242G>A c.(6241-6243)cGg>cAg p.R2081Q SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2081Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2081Q O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2081 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 ctccttctcccgctccTCTAG 0.567000 5 8 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486078 94486078 + Missense_Mutation SNP C C T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr9:94486078C>T ENST00000375708.3 - 9 2896 c.2698G>A c.(2698-2700)Gcc>Acc p.A900T ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 900 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCTTCTGGGGCGTTCTGTGTG 0.632000 40 82 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89692911 89692911 + Missense_Mutation SNP G G A rs121909241 TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr10:89692911G>A ENST00000371953.3 + 5 1752 c.395G>A c.(394-396)gGt>gAt p.G132D NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 132 Phosphatase tensin-type. G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGACGAACTGGTGTAATGATA 0.398000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 33 42 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 7 118 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 34243682 34243682 + Missense_Mutation SNP A A C TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr14:34243682A>C ENST00000346562.2 + 7 970 c.896A>C c.(895-897)cAt>cCt p.H299P NPAS3_ENST00000356141.4_Missense_Mutation_p.H331P|NPAS3_ENST00000551492.1_Missense_Mutation_p.H336P|NPAS3_ENST00000548645.1_Missense_Mutation_p.H301P|NPAS3_ENST00000357798.5_Missense_Mutation_p.H318P NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) ATTGACTGCCATATGTTCGTC 0.468000 37 63 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196654268 196654268 + Missense_Mutation SNP G G A TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr1:196654268G>A ENST00000367429.4 + 7 1105 c.865G>A c.(865-867)Gaa>Aaa p.E289K CFH_ENST00000439155.2_Missense_Mutation_p.E289K|CFH_ENST00000359637.2_Missense_Mutation_p.E225K NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 289 Sushi 5. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 AACTGGAGATGAAATCACGTA 0.388000 63 106 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681981 100681981 + Silent SNP C C G rs148310097 byFrequency TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr7:100681981C>G ENST00000306151.4 + 3 7348 c.7284C>G c.(7282-7284)gtC>gtG p.V2428V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2428 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTGTCACCACTTCTA 0.522000 7 576 0 0 1 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111637761 111637761 + Missense_Mutation SNP C C T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr10:111637761C>T ENST00000369680.4 - 13 1357 c.1109G>A c.(1108-1110)cGc>cAc p.R370H XPNPEP1_ENST00000322238.8_Missense_Mutation_p.R413H|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.R299H|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.R413H NM_020383.3 NP_065116.3 Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 370 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity p.R370H(1) endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) TCCTTACCTGCGAAACTCCTC 0.463000 4 66 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48454246 48454246 + Missense_Mutation SNP G G A TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr3:48454246G>A ENST00000358536.4 - 25 5028 c.4759C>T c.(4759-4761)Cgg>Tgg p.R1587W PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1587W|PLXNB1_ENST00000448774.2_Missense_Mutation_p.R198W|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1404W|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1404W NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1587 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCCAGGTCCCGGTGCAAGGGC 0.622000 17 29 0 0 1 0 0 IGHM 0 broad.mit.edu 37 14 106320841 106320841 + RNA SNP C C A TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr14:106320841C>A ENST00000390559.2 - 0 968 GCAGGGCCACCCCTGTGAACA 0.667000 5 7 0.0215528 0.0215528 1 1 0 LYRM5 144363 broad.mit.edu 37 12 25357118 25357118 + Missense_Mutation SNP C C A TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr12:25357118C>A ENST00000557540.2 + 3 308 c.139C>A c.(139-141)Cca>Aca p.P47T LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556885.1_Missense_Mutation_p.P47T|LYRM5_ENST00000556927.1_Missense_Mutation_p.P47T|LYRM5_ENST00000556351.1_Missense_Mutation_p.P47T|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000381356.4_Missense_Mutation_p.P49T Q6IPR1 LYRM5_HUMAN LYR motif containing 5 47 large_intestine(3) 3 all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138) TGTGAAGAATCCAGAGAAGAT 0.363000 16 27 3.45872e-05 3.53732e-05 1 1 0 CUX1 1523 broad.mit.edu 37 7 101671400 101671400 + Missense_Mutation SNP C C T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr7:101671400C>T ENST00000360264.3 + 3 217 c.197C>T c.(196-198)cCg>cTg p.P66L CUX1_ENST00000292535.7_Missense_Mutation_p.P55L|CUX1_ENST00000393824.3_Missense_Mutation_p.P29L|CUX1_ENST00000556210.1_Missense_Mutation_p.P55L|CUX1_ENST00000550008.2_Missense_Mutation_p.P55L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P55L|CUX1_ENST00000546411.2_Missense_Mutation_p.P55L|CUX1_ENST00000437600.4_Missense_Mutation_p.P66L|CUX1_ENST00000292538.4_Missense_Mutation_p.P66L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.P66L NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 55 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CAGGTAGCGCCGCTGCTGAAG 0.463000 13 36 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114274342 114274342 + Missense_Mutation SNP C C T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr4:114274342C>T ENST00000357077.4 + 38 4621 c.4568C>T c.(4567-4569)aCa>aTa p.T1523I ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T1490I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1490 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATCTTGACCACAGATGTGTCT 0.443000 41 72 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48631681 48631681 + Missense_Mutation SNP C C T rs147500920 TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr17:48631681C>T ENST00000006658.6 + 15 2147 c.2027C>T c.(2026-2028)aCg>aTg p.T676M SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.T616M|SPATA20_ENST00000356488.4_Missense_Mutation_p.T660M NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 660 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CATGGCTTCACGGGCCACAAG 0.642000 3 40 0 0 1 0 0 HOXD4 3233 broad.mit.edu 37 2 177017669 177017669 + Nonstop_Mutation SNP A A G TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr2:177017669A>G ENST00000306324.3 + 2 1179 c.767A>G c.(766-768)tAg>tGg p.*256W HOXD3_ENST00000468418.3_5'UTR NM_014621.2 NP_055436.2 P09016 HXD4_HUMAN homeobox D4 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) ACGACCTTATAGAAGTGGGGA 0.632000 21 43 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10419305 10419305 + Missense_Mutation SNP C C T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr17:10419305C>T ENST00000226207.5 - 5 537 c.443G>A c.(442-444)cGc>cAc p.R148H CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 148 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.R148H(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGCCTCCTGGCGCTTTTTGCC 0.502000 36 94 0 0 1 0 0 NR1H2 7376 broad.mit.edu 37 19 50882296 50882296 + Missense_Mutation SNP C C T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr19:50882296C>T ENST00000253727.5 + 7 1020 c.785C>T c.(784-786)gCc>gTc p.A262V NR1H2_ENST00000411902.2_Missense_Mutation_p.A165V|NR1H2_ENST00000598168.1_Intron|NR1H2_ENST00000599105.1_Intron|NR1H2_ENST00000593926.1_Missense_Mutation_p.A262V|NR1H2_ENST00000542413.1_Intron NM_007121.5 NP_009052.3 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 262 Ligand-binding (Potential). negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) TCCCGAGATGCCCGCCAGCAA 0.632000 4 122 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24373179 24373179 + Missense_Mutation SNP G G A TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr16:24373179G>A ENST00000005284.3 + 4 2145 c.943G>A c.(943-945)Gtc>Atc p.V315I NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 315 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.V315I(2) NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CACCACGCCCGTCTGAACTGA 0.552000 13 32 0 0 1 0 0 CAPG 822 broad.mit.edu 37 2 85622055 85622055 + Missense_Mutation SNP C C G TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr2:85622055C>G ENST00000263867.4 - 10 1257 c.1008G>C c.(1006-1008)gaG>gaC p.E336D CAPG_ENST00000409670.1_Missense_Mutation_p.E336D|CAPG_ENST00000409724.1_Missense_Mutation_p.E336D|CAPG_ENST00000409921.1_Missense_Mutation_p.E321D NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 336 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 AGATGGGACTCTCATGGCCCT 0.597000 8 19 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94044279 94044279 + Missense_Mutation SNP A A G rs141609728 byFrequency TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr5:94044279A>G ENST00000515393.1 - 22 2865 c.2866T>C c.(2866-2868)Tat>Cat p.Y956H MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000312216.8_Missense_Mutation_p.Y735H|MCTP1_ENST00000505078.1_Missense_Mutation_p.Y472H|MCTP1_ENST00000429576.2_Missense_Mutation_p.Y649H NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 956 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TCAATTGCATATGGACTCCGA 0.323000 13 33 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 6 112 0 0 1 0 0 NDNL2 56160 broad.mit.edu 37 15 29561310 29561310 + Missense_Mutation SNP G G C TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr15:29561310G>C ENST00000332303.4 - 1 723 c.600C>G c.(598-600)gaC>gaG p.D200E FAM189A1_ENST00000261275.4_Intron NM_138704.3 NP_619649.1 Q96MG7 MAGG1_HUMAN necdin-like 2 200 MAGE. regulation of growth cytoplasm|nucleus breast(3)|large_intestine(2)|lung(3) 8 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GCCGCAGAAAGTCCCAGGCTT 0.517000 22 40 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73566103 73566103 + Silent SNP C C T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr17:73566103C>T ENST00000392550.3 + 15 1758 c.1641C>T c.(1639-1641)gcC>gcT p.A547A LLGL2_ENST00000167462.5_Silent_p.A547A|LLGL2_ENST00000577200.1_Silent_p.A547A NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 547 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AGGTGGAGGCCGACCTGCTGC 0.667000 9 31 0 0 1 0 0 STEAP1 26872 broad.mit.edu 37 7 89790581 89790581 + Missense_Mutation SNP C C G TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr7:89790581C>G ENST00000297205.2 + 3 747 c.547C>G c.(547-549)Cca>Gca p.P183A STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 183 Ferric oxidoreductase. electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) TCTGTCTTACCCAATGAGGCG 0.388000 5 78 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55232997 55232997 + Missense_Mutation SNP G G T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr7:55232997G>T ENST00000275493.2 + 15 1924 c.1747G>T c.(1747-1749)Gcc>Tcc p.A583S EGFR_ENST00000344576.2_Missense_Mutation_p.A583S|EGFR_ENST00000442591.1_Missense_Mutation_p.A583S|EGFR_ENST00000342916.3_Missense_Mutation_p.A583S|EGFR_ENST00000454757.2_Missense_Mutation_p.A530S|EGFR_ENST00000455089.1_Missense_Mutation_p.A538S NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 583 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TATCCAGTGTGCCCACTACAT 0.498000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 12 61 1.05317e-09 1.18482e-09 1 1 0 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G G T rs139236063 TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr7:55233043G>T ENST00000275493.2 + 15 1970 c.1793G>T c.(1792-1794)gGa>gTa p.G598V EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 598 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(15) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 15 52 3.27435e-08 3.50823e-08 1 1 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_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 3 43 0 0 1 0 0 MALAT1 0 broad.mit.edu 37 11 65268060 65268060 + RNA SNP A A G TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr11:65268060A>G ENST00000534336.1 + 0 2828 NR_002819.2 AGCGCTAACGATTTGGTGGTG 0.532000 56 49 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 57 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 618738 618738 + Silent SNP T T C TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr11:618738T>C ENST00000358353.3 - 14 2143 c.1821A>G c.(1819-1821)gcA>gcG p.A607A CDHR5_ENST00000397542.2_Silent_p.A607A|CDHR5_ENST00000349570.7_Intron Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 607 4 X 31 AA approximate tandem repeats. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GAGAGGTTCCTGCCTCTGGGG 0.662000 57 109 0 0 1 0 0 HYI 81888 broad.mit.edu 37 1 43919413 43919413 + Frame_Shift_Del DEL A A - rs6692611 by1000genomes TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr1:43919413delA ENST00000372425.4 - 1 247 c.52delT c.(52-54)ccfs p.S18fs HYI_ENST00000372434.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000372432.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000583037.1_5'UTR|HYI_ENST00000486909.1_Frame_Shift_Del_p.S18fs Q5T013 HYI_HUMAN hydroxypyruvate isomerase (putative) 18 S -> P (in Ref. 1; AAV84474, 3; AAK67642 and 5; AAH19041). hydroxypyruvate isomerase activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 6 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGGAGGCCGGAGAGCTCGGGG 0.771 2 4 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276044 186276046 + In_Frame_Del DEL CCA CCA - TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr1:186276044_186276046delCCA ENST00000445192.2 + 7 1238_1240 c.1193_1195delCCA c.(1192-1197)ccc>c p.PT398del PRG4_ENST00000367484.3_In_Frame_Del_p.PT357del|PRG4_ENST00000367483.4_In_Frame_Del_p.PT357del|PRG4_ENST00000367486.3_In_Frame_Del_p.PT355del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT305del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 398 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GAGCCTGCACCCACCACCACCAA 0.650 7 121 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 3 4 --- --- --- --- AC018730.1 0 broad.mit.edu 37 2 105440929 105440930 + RNA INS - - T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr2:105440929_105440930insT ENST00000458253.1 - 0 147 AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000443988.1_RNA ggtggtgatggtggtggtggtg 0.589 2 4 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157100396 157100397 + In_Frame_Ins INS - - CGC TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr6:157100396_157100397insCGC ENST00000346085.5 + 1 1334_1335 c.1333_1334insCGC c.(1333-1335)gcc>CGCgcc p.444_445insR ARID1B_ENST00000367148.1_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000350026.5_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000275248.4_In_Frame_Ins_p.386_387insR NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 444 Ala-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.P392_S393insP(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGCCCCAGCGCGCCGCCGCCG 0.787 3 3 --- --- --- --- RP11-981G7.2 0 broad.mit.edu 37 8 10335889 10335903 + RNA DEL GGCTGCAGTGGTTGT GGCTGCAGTGGTTGT - rs55641852 TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr8:10335889_10335903delGGCTGCAGTGGTTGT ENST00000517732.1 + 0 223 RP11-981G7.3_ENST00000520494.1_lincRNA GTGGTTGTCAGGCTGCAGTGGTTGTGGCTGCAGTG 0.586 5 5 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118307414 118307416 + In_Frame_Del DEL GCG GCG - TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr11:118307414_118307416delGCG ENST00000534358.1 + 1 210_212 c.187_189delGCG c.(187-189)del p.A67del KMT2A_ENST00000389506.5_In_Frame_Del_p.A67del|KMT2A_ENST00000354520.4_In_Frame_Del_p.A67del NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A tgtggcggccgcggcggcggcgg 0.813 2 4 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 7 55 --- --- --- --- RP11-33N16.3 0 broad.mit.edu 37 14 90203658 90203660 + RNA DEL CTC CTC - rs10140344 TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr14:90203658_90203660delCTC ENST00000555070.1 - 0 170 TATTTCTTTTCTCTTTCTTTCtt 0.355 6 3 --- --- --- --- AKAP13 11214 broad.mit.edu 37 15 86287023 86287025 + In_Frame_Del DEL AAG AAG - TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr15:86287023_86287025delAAG ENST00000394518.2 + 36 8454_8456 c.8359_8361delAAG c.(8359-8361)del p.K2788del AKAP13_ENST00000394510.2_In_Frame_Del_p.K1033del|AKAP13_ENST00000361243.2_In_Frame_Del_p.K2792del|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2788 Interaction with ESR1.|Poly-Lys. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GGAGAAAAAAAAGAAGAACAAAA 0.527 8 48 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32095553 32095553 + RNA DEL G G - TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr16:32095553delG ENST00000566806.1 - 0 499 CTGGGGCCCCGAGGGAGATGT 0.642 2 4 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29486037 29486037 + Frame_Shift_Del DEL G G - TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7928b2cc-7548-4b85-9107-a5462d1858db 18237653-5da7-42cf-8d0d-a2ba91a7e5ec g.chr17:29486037delG ENST00000358273.4 + 3 597 c.214delG c.(214-216)gafs p.G72fs NF1_ENST00000356175.3_Frame_Shift_Del_p.G72fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.G72fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 72 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GAGAATATTTGGAGAAGCTGC 0.318 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 18 16 --- --- --- ---