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 BRCA2 675 broad.mit.edu 37 13 32915060 32915060 + Missense_Mutation SNP G G A rs80358888 TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr13:32915060G>A ENST00000544455.1 + 11 6795 c.6568G>A c.(6568-6570)Gta>Ata p.V2190I BRCA2_ENST00000380152.3_Missense_Mutation_p.V2190I NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2190 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) ACCTAAAAACGTAAAAATGGA 0.323000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 3 43 0 0 1 0 0 IFI16 3428 broad.mit.edu 37 1 159021848 159021848 + Missense_Mutation SNP C C A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr1:159021848C>A ENST00000295809.7 + 10 2300 c.2045C>A c.(2044-2046)aCt>aAt p.T682N IFI16_ENST00000368131.4_Missense_Mutation_p.T626N|IFI16_ENST00000340979.6_Missense_Mutation_p.T570N|IFI16_ENST00000430894.2_Missense_Mutation_p.T630N|IFI16_ENST00000359709.3_Missense_Mutation_p.T626N|IFI16_ENST00000448393.2_Missense_Mutation_p.T570N|IFI16_ENST00000368132.3_Missense_Mutation_p.T626N Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 682 HIN-200 2. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) TGCTCACAAACTAAAGGAAGT 0.393000 36 54 3.62531e-18 3.89721e-18 1 1 0 CES1P1 0 broad.mit.edu 37 16 55794587 55794587 + RNA SNP G G T rs151262919 by1000genomes TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr16:55794587G>T ENST00000571348.1 + 0 77 NR_003276.2 GGCCACTCTCGCTGCTTCCGC 0.597000 5 21 3.59834e-05 3.68401e-05 1 1 0 LRRC27 80313 broad.mit.edu 37 10 134165159 134165159 + Missense_Mutation SNP G G A rs147065829 TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr10:134165159G>A ENST00000392638.2 + 8 1265 c.1070G>A c.(1069-1071)cGt>cAt p.R357H LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000368614.3_Silent_p.P325P|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000475747.1_3'UTR Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 0 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) TCTTGTCACCGTACCAAATGG 0.527000 4 214 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85946826 85946826 + Silent SNP G G A rs146360039 byFrequency TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr16:85946826G>A ENST00000268638.5 + 5 959 c.537G>A c.(535-537)gcG>gcA p.A179A NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 179 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) ACTGGTGGGCGCAGCAGCCCA 0.617000 3 47 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 26 54 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128200724 128200724 + Missense_Mutation SNP G G A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr3:128200724G>A ENST00000341105.2 - 5 1412 c.1081C>T c.(1081-1083)Cgc>Tgc p.R361C GATA2_ENST00000430265.2_Missense_Mutation_p.R347C|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.R361C NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 361 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) GCGTTTCGGCGCCATAAGGTG 0.657000 Mis AML(CML blast transformation) 3 56 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78061450 78061450 + Missense_Mutation SNP C C G TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr17:78061450C>G ENST00000397545.4 + 15 2521 c.2494C>G c.(2494-2496)Cac>Gac p.H832D CCDC40_ENST00000374877.3_Missense_Mutation_p.H832D NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 832 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GATCGAGCACCACATGAAGGA 0.542000 6 19 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 5 38 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55658642 55658642 + Missense_Mutation SNP G G C TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr11:55658642G>C ENST00000449290.2 + 7 985 c.893G>C c.(892-894)aGt>aCt p.S298T TRIM51_ENST00000244891.3_Missense_Mutation_p.S155T NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 298 B30.2/SPRY. intracellular zinc ion binding AGAGCCAATAGTCATATCTTC 0.333000 28 45 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183093828 183093828 + Missense_Mutation SNP G G A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr1:183093828G>A ENST00000258341.4 + 14 2721 c.2464G>A c.(2464-2466)Gtg>Atg p.V822M NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 822 Laminin EGF-like 7. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAACGGCCCTGTGAGACTTTG 0.498000 36 61 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57133976 57133976 + Missense_Mutation SNP T T C TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr18:57133976T>C ENST00000439986.4 - 5 585 c.548A>G c.(547-549)gAc>gGc p.D183G CCBE1_ENST00000398179.2_5'UTR NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 183 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) CTTACCAGTGTCATTGGGATA 0.398000 30 114 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34924043 34924043 + Missense_Mutation SNP T T G TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr21:34924043T>G ENST00000356577.4 + 3 2981 c.2506T>G c.(2506-2508)Tta>Gta p.L836V SON_ENST00000300278.4_Missense_Mutation_p.L836V|SON_ENST00000381679.4_Missense_Mutation_p.L836V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.L836V NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 836 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. 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 CTCCCAGATGTTAGCAACCAG 0.507000 89 169 0 0 1 0 0 IFI16 3428 broad.mit.edu 37 1 159021837 159021837 + Silent SNP T T G TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr1:159021837T>G ENST00000295809.7 + 10 2289 c.2034T>G c.(2032-2034)ctT>ctG p.L678L IFI16_ENST00000368131.4_Silent_p.L622L|IFI16_ENST00000340979.6_Silent_p.L566L|IFI16_ENST00000430894.2_Silent_p.L626L|IFI16_ENST00000359709.3_Silent_p.L622L|IFI16_ENST00000448393.2_Silent_p.L566L|IFI16_ENST00000368132.3_Silent_p.L622L Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 678 HIN-200 2. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) TCAATCAGCTTTGCTCACAAA 0.403000 35 53 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104984612 104984612 + Missense_Mutation SNP C C A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chrX:104984612C>A ENST00000372582.1 + 8 1732 c.976C>A c.(976-978)Ctg>Atg p.L326M IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L326M NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 326 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGAAGCTGACCTGGCGAATTA 0.398000 48 19 8.00217e-19 8.8229e-19 1 1 0 SEPT4 5414 broad.mit.edu 37 17 56598656 56598656 + Missense_Mutation SNP C C T rs139843357 byFrequency TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr17:56598656C>T ENST00000457347.2 - 10 1262 c.1118G>A c.(1117-1119)cGg>cAg p.R373Q SEPT4_ENST00000579371.1_Missense_Mutation_p.R259Q|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Missense_Mutation_p.R350Q|SEPT4_ENST00000393086.1_Missense_Mutation_p.R339Q|SEPT4_ENST00000317256.6_Missense_Mutation_p.R339Q|SEPT4_ENST00000317268.3_Missense_Mutation_p.R358Q|SEPT4_ENST00000583114.1_Missense_Mutation_p.R211Q|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580844.1_Missense_Mutation_p.R259Q NM_001256782.1 NP_001243711.1 O43236 SEPT4_HUMAN septin 4 358 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGAACTCGCCGCCCTCTGGC 0.577000 OREG0024614 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 53 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 4 61 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540777 55540777 + Silent SNP T T A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr8:55540777T>A ENST00000220676.1 + 4 4483 c.4335T>A c.(4333-4335)tcT>tcA p.S1445S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1445 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CACGGACTTCTGAAGAACCAG 0.343000 22 51 0 0 1 0 0 CHST3 9469 broad.mit.edu 37 10 73765715 73765715 + Nonsense_Mutation SNP G G T TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr10:73765715G>T ENST00000373115.4 + 2 552 c.115G>T c.(115-117)Gaa>Taa p.E39* NM_004273.4 NP_004264.2 Q7LGC8 CHST3_HUMAN carbohydrate (chondroitin 6) sulfotransferase 3 39 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity p.E39*(1) endometrium(1)|lung(5) 6 TGTCTTCATCGAAAAGGAAAA 0.483000 4 112 0.00024832 0.00024832 1 1 0 CTBP2 1488 broad.mit.edu 37 10 126682486 126682486 + Silent SNP T T C rs76949963 by1000genomes TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr10:126682486T>C ENST00000309035.6 - 6 2599 c.2469A>G c.(2467-2469)caA>caG p.Q823Q CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 283 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCTTGAGGGCTTGTGCTAAGG 0.617000 4 113 0 0 1 0 0 ZNF568 374900 broad.mit.edu 37 19 37488331 37488331 + Nonsense_Mutation SNP C C T TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr19:37488331C>T ENST00000455427.2 + 9 1875 c.1546C>T c.(1546-1548)Cga>Tga p.R516* NM_001204839.1 NP_001191768.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 603 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAACTTGTTCGACATCAAAA 0.443000 3 8 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33855189 33855189 + Missense_Mutation SNP G G A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr15:33855189G>A ENST00000389232.4 + 11 1194 c.1124G>A c.(1123-1125)cGc>cAc p.R375H RYR3_ENST00000415757.3_Missense_Mutation_p.R375H NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 375 MIR 5. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R375H(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAAACTTCCCGCCTGGGACCT 0.448000 34 53 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33581437 33581437 + Missense_Mutation SNP C C T TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr11:33581437C>T ENST00000321505.4 + 6 3287 c.3107C>T c.(3106-3108)cCg>cTg p.P1036L KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P1042L|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P1042L KIAA1549-like p.P1042L(1) CTCACCTATCCGCCGCTAACC 0.562000 4 203 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237285745 237285745 + Splice_Site SNP C C A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr2:237285745C>A ENST00000409907.3 - 13 1836 c.e13+1 IQCA1_ENST00000431676.2_Splice_Site|IQCA1_ENST00000309507.5_Splice_Site Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TGTGTACTCACCAATGTAATC 0.418000 22 28 3.01185e-09 3.15877e-09 1 1 0 PVRL2 5819 broad.mit.edu 37 19 45377223 45377223 + Missense_Mutation SNP C C T TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr19:45377223C>T ENST00000252483.5 + 4 826 c.826C>T c.(826-828)Cgt>Tgt p.R276C PVRL2_ENST00000252485.4_Missense_Mutation_p.R276C NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 276 Ig-like C2-type 2. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) GTACCTCGGCCGTACTGATGC 0.602000 30 51 0 0 1 0 0 PTGIR 0 broad.mit.edu 37 19 47124854 47124854 + Missense_Mutation SNP C C T TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr19:47124854C>T ENST00000291294.2 - 3 977 c.844G>A c.(844-846)Gcc>Acc p.A282T PTGIR_ENST00000597185.1_Missense_Mutation_p.A11T|PTGIR_ENST00000594275.1_Missense_Mutation_p.A39T|PTGIR_ENST00000598865.1_Missense_Mutation_p.A70T NM_000960.3 NP_000951.1 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 282 cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) GGGTTGAAGGCGTAGAAGCGG 0.632000 21 25 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745759 77745759 + Silent SNP G G A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr2:77745759G>A ENST00000409088.3 - 3 1650 c.1236C>T c.(1234-1236)ggC>ggT p.G412G LRRTM4_ENST00000409911.1_Silent_p.G413G|LRRTM4_ENST00000409093.1_Silent_p.G412G|LRRTM4_ENST00000409884.1_Silent_p.G412G|LRRTM4_ENST00000409282.1_Silent_p.G413G NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 412 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) CTTGCTCTGCGCCAGGAATCT 0.473000 3 40 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 5 69 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2566835 2566835 + Silent SNP C C T TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr12:2566835C>T ENST00000399655.1 + 5 985 c.720C>T c.(718-720)cgC>cgT p.R240R CACNA1C_ENST00000399603.1_Silent_p.R240R|CACNA1C_ENST00000399595.1_Silent_p.R240R|CACNA1C_ENST00000347598.4_Silent_p.R240R|CACNA1C_ENST00000399644.1_Silent_p.R240R|CACNA1C_ENST00000327702.7_Silent_p.R240R|CACNA1C_ENST00000399597.1_Silent_p.R240R|CACNA1C_ENST00000399649.1_Silent_p.R240R|CACNA1C_ENST00000406454.3_Silent_p.R240R|CACNA1C_ENST00000335762.5_Silent_p.R240R|CACNA1C_ENST00000402845.3_Silent_p.R240R|CACNA1C_ENST00000399641.1_Silent_p.R240R|CACNA1C_ENST00000480911.1_Silent_p.R240R|CACNA1C_ENST00000399606.1_Silent_p.R240R|CACNA1C_ENST00000399617.1_Silent_p.R240R|CACNA1C_ENST00000399629.1_Silent_p.R240R|CACNA1C_ENST00000399638.1_Silent_p.R240R|CACNA1C_ENST00000399591.1_Silent_p.R240R|CACNA1C_ENST00000399621.1_Silent_p.R240R|CACNA1C_ENST00000344100.3_Silent_p.R240R|CACNA1C_ENST00000399637.1_Silent_p.R240R|CACNA1C_ENST00000399601.1_Silent_p.R240R|CACNA1C_ENST00000399634.1_Silent_p.R240R NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 240 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGGCCTTCCGCGTGCTGCGCC 0.552000 20 217 0 0 1 0 0 LILRA2 0 broad.mit.edu 37 19 55086932 55086932 + Missense_Mutation SNP C C T TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr19:55086932C>T ENST00000251377.3 + 6 998 c.865C>T c.(865-867)Cac>Tac p.H289Y LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.H289Y(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GAGCCCCTCCCACGGGGGCCA 0.647000 4 76 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11532900 11532900 + Splice_Site SNP C C T rs141702885 by1000genomes TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr17:11532900C>T ENST00000262442.3 + 7 1585 c.1518_splice c.e7+1 p.T506_splice DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Splice_Site_p.T506_splice NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 506 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTCCAAAGCACGGTAGGGTTG 0.507000 4 43 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382965 22382965 + Missense_Mutation SNP C C T TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr15:22382965C>T ENST00000328795.4 + 1 584 c.493C>T c.(493-495)Cgc>Tgc p.R165C RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R165S(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CCTCATCCTCCGCTTGCCTTT 0.517000 5 160 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9864259 9864259 + Missense_Mutation SNP G G A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr11:9864259G>A ENST00000256190.8 - 25 3306 c.3169C>T c.(3169-3171)Cgg>Tgg p.R1057W RP11-1H15.2_ENST00000533659.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1057 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) AAATATTGCCGCCCAATTGTC 0.368000 4 96 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197297963 197297963 + Missense_Mutation SNP C C T rs62635651 TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr1:197297963C>T ENST00000367400.3 + 2 617 c.482C>T c.(481-483)gCc>gTc p.A161V CRB1_ENST00000538660.1_Missense_Mutation_p.A161V|CRB1_ENST00000535699.1_Missense_Mutation_p.A92V|CRB1_ENST00000367399.2_Missense_Mutation_p.A161V NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 161 EGF-like 4; calcium-binding (Potential). A -> V (in RP12). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CAAAATGGGGCCGTGTGCCAG 0.507000 7 26 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887029 25887029 + Missense_Mutation SNP G G A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr10:25887029G>A ENST00000376351.3 + 11 2833 c.2474G>A c.(2473-2475)aGa>aAa p.R825K GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 825 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GACCACGTGAGAGACCAAACG 0.493000 16 61 0 0 1 0 0 ALDOC 230 broad.mit.edu 37 17 26902441 26902441 + Missense_Mutation SNP A A G TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr17:26902441A>G ENST00000226253.4 - 2 585 c.110T>C c.(109-111)gTa>gCa p.V37A ALDOC_ENST00000395319.3_Missense_Mutation_p.V37A|ALDOC_ENST00000395321.2_Missense_Mutation_p.V37A NM_005165.2 NP_005156.1 P09972 ALDOC_HUMAN aldolase C, fructose-bisphosphate 37 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) CCACTTACCTACAGACTCATC 0.567000 OREG0024278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 41 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169580817 169580817 + Missense_Mutation SNP A A G TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr1:169580817A>G ENST00000263686.6 - 7 1097 c.1060T>C c.(1060-1062)Tgc>Cgc p.C354R SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C292R|SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C292R|SELP_ENST00000367786.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 354 Sushi 3. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CCGGGCTGGCACTCAAATTTA 0.552000 4 104 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38272123 38272123 + Missense_Mutation SNP C C T TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr8:38272123C>T ENST00000447712.2 - 15 2943 c.2002G>A c.(2002-2004)Gca>Aca p.A668T FGFR1_ENST00000532791.1_Missense_Mutation_p.A666T|FGFR1_ENST00000425967.3_Missense_Mutation_p.A699T|FGFR1_ENST00000397103.1_Missense_Mutation_p.A579T|FGFR1_ENST00000397113.2_Missense_Mutation_p.A666T|FGFR1_ENST00000356207.5_Missense_Mutation_p.A579T|FGFR1_ENST00000341462.5_Missense_Mutation_p.A668T|FGFR1_ENST00000335922.5_Missense_Mutation_p.A658T|FGFR1_ENST00000326324.6_Missense_Mutation_p.A577T|FGFR1_ENST00000397091.5_Missense_Mutation_p.A666T|FGFR1_ENST00000397108.4_Missense_Mutation_p.A666T NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 668 Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GCCTCGGGTGCCATCCACTTC 0.582000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 3 25 0 0 1 0 0 LILRA2 0 broad.mit.edu 37 19 55086927 55086927 + Missense_Mutation SNP C C G TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr19:55086927C>G ENST00000251377.3 + 6 993 c.860C>G c.(859-861)cCc>cGc p.P287R LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CCTGTGAGCCCCTCCCACGGG 0.637000 4 73 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90571823 90571823 + RNA DEL T T - TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr6:90571823delT ENST00000551025.1 + 0 1853 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) ataatttaactttttttttta 0.284 2 4 --- --- --- --- BCOR 54880 broad.mit.edu 37 X 39932270 39932279 + Frame_Shift_Del DEL GATGTAACTT GATGTAACTT - TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chrX:39932270_39932279delGATGTAACTT ENST00000342274.4 - 4 2682_2691 c.2320_2329delAAGTTACATC c.(2320-2331)cafs p.KLHP774fs BCOR_ENST00000378444.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KLHP774fs NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 774 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GGGACATCTGGATGTAACTTGGTGCTGCTA 0.524 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 71 58 --- --- --- ---