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 SDR42E1 93517 broad.mit.edu 37 16 82033700 82033700 + Silent SNP T T C TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr16:82033700T>C ENST00000328945.5 - 3 325 c.198A>G c.(196-198)aaA>aaG p.K66K SDR42E1_ENST00000534209.1_5'UTR NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 66 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 CCTGGAAGGCTTTCTCTACGT 0.473000 7 124 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113536317 113536317 + Missense_Mutation SNP A A G TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr13:113536317A>G ENST00000375630.2 + 29 3603 c.3515A>G c.(3514-3516)cAc>cGc p.H1172R ATP11A_ENST00000487903.1_3'UTR|ATP11A_ENST00000375645.3_3'UTR NM_032189.3 NP_115565.3 P98196 AT11A_HUMAN ATPase, class VI, type 11A 0 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GGTTCCCATCACCACTGCAGT 0.627000 23 37 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125486748 125486748 + Silent SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr9:125486748C>T ENST00000259466.1 + 1 480 c.480C>T c.(478-480)cgC>cgT p.R160R NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 CCCTGTTCCGCGTGCTACTTA 0.478000 17 170 0 0 1 0 0 RPIA 22934 broad.mit.edu 37 2 89049582 89049582 + Missense_Mutation SNP A A C TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr2:89049582A>C ENST00000283646.4 + 9 978 c.923A>C c.(922-924)aAg>aCg p.K308T NM_144563.2 NP_653164.2 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A 308 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) ATGAGGGAGAAGCCTTTCTGT 0.532000 3 22 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692453 135692453 + Missense_Mutation SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr5:135692453C>T ENST00000513104.1 - 2 905 c.623G>A c.(622-624)cGg>cAg p.R208Q TRPC7_ENST00000426057.2_Missense_Mutation_p.R208Q|TRPC7_ENST00000355180.3_Missense_Mutation_p.R208Q NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 208 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGAGTCTTTCCGCTGTTTCTC 0.597000 11 25 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 3 28 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131388554 131388554 + Missense_Mutation SNP A A G TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr3:131388554A>G ENST00000512055.1 - 11 2772 c.646T>C c.(646-648)Tct>Cct p.S216P CPNE4_ENST00000511604.1_Missense_Mutation_p.S216P|CPNE4_ENST00000512332.1_Missense_Mutation_p.S234P|CPNE4_ENST00000429747.1_Missense_Mutation_p.S216P|CPNE4_ENST00000502818.1_Missense_Mutation_p.S234P Q96A23 CPNE4_HUMAN copine IV 216 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 CTGCATAGAGAATTTACAGAT 0.398000 24 109 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54321052 54321052 + Missense_Mutation SNP C C A TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chrX:54321052C>A ENST00000354646.2 - 8 2065 c.1627G>T c.(1627-1629)Gtt>Ttt p.V543F WNK3_ENST00000375159.2_Missense_Mutation_p.V543F|WNK3_ENST00000375169.3_Missense_Mutation_p.V543F NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 543 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 TGTTGATCAACTTCAGTTTCT 0.453000 5 17 0.0293803 0.0307158 1 1 0 KATNAL1 84056 broad.mit.edu 37 13 30857773 30857773 + Missense_Mutation SNP T T C TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr13:30857773T>C ENST00000380615.3 - 2 309 c.142A>G c.(142-144)Atc>Gtc p.I48V KATNAL1_ENST00000380617.3_Missense_Mutation_p.I48V NM_032116.4 NP_115492.1 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 48 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) TTGCCTTTGATAGCTGGATCT 0.398000 33 120 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43623650 43623650 + Missense_Mutation SNP A A G TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr10:43623650A>G ENST00000355710.3 + 20 3510 c.3278A>G c.(3277-3279)gAt>gGt p.D1093G NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 1093 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TATCCAAATGATAGTGTATAT 0.438000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 5 99 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G T rs121913499 TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr2:209113113G>T ENST00000415913.1 - 4 775 c.394C>A c.(394-396)Cgt>Agt p.R132S IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 15 20 1.99824e-07 2.18854e-07 1 1 0 CELSR1 9620 broad.mit.edu 37 22 46780468 46780468 + Silent SNP G G A TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr22:46780468G>A ENST00000262738.3 - 20 6854 c.6855C>T c.(6853-6855)gcC>gcT p.A2285A NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2285 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TGAAGAAGTCGGCTGGGAAGG 0.587000 7 9 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38187162 38187162 + Missense_Mutation SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr8:38187162C>T ENST00000317025.8 - 6 1832 c.1315G>A c.(1315-1317)Gcc>Acc p.A439T WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A439T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A439T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A439T NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 439 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) AGTGAGGAGGCCACCTCCCCT 0.498000 T NUP98 AML 17 107 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139890318 139890318 + Silent SNP G G A TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr8:139890318G>A ENST00000303045.6 - 3 779 c.333C>T c.(331-333)caC>caT p.H111H COL22A1_ENST00000435777.1_Silent_p.H111H NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 111 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGTTGCCCCCGTGGTAGGCGA 0.711000 HNSCC(7;0.00092) 3 9 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179701639 179701639 + Missense_Mutation SNP G G A TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr2:179701639G>A ENST00000420890.2 - 23 4424 c.4307C>T c.(4306-4308)cCa>cTa p.P1436L CCDC141_ENST00000295723.5_Missense_Mutation_p.P861L|CCDC141_ENST00000480419.1_5'UTR NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 861 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TGTAGGCTCTGGAAATCCTGT 0.428000 7 30 0 0 1 0 0 PI3 5266 broad.mit.edu 37 20 43804744 43804744 + Missense_Mutation SNP T T C TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr20:43804744T>C ENST00000243924.3 + 2 369 c.322T>C c.(322-324)Tct>Cct p.S108P NM_002638.3 NP_002629.1 P19957 ELAF_HUMAN peptidase inhibitor 3, skin-derived 108 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) CTGTGAAGGCTCTTGCGGGAT 0.552000 18 51 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9810864 9810864 + Missense_Mutation SNP G G C TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr11:9810864G>C ENST00000256190.8 - 35 4861 c.4724C>G c.(4723-4725)tCt>tGt p.S1575C SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000525636.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1575 Myotubularin phosphatase. 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) CTTGAGGCTAGAGACGTTTAC 0.473000 7 62 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309048 248309048 + Missense_Mutation SNP T T C TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr1:248309048T>C ENST00000366476.1 + 1 599 c.599T>C c.(598-600)tTc>tCc p.F200S NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) AAGGTTCTTTTCATCTGCTGT 0.428000 20 261 0 0 1 0 0 BTLA 151888 broad.mit.edu 37 3 112185016 112185016 + Missense_Mutation SNP C C A rs138132778 TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr3:112185016C>A ENST00000334529.5 - 5 1011 c.809G>T c.(808-810)aGa>aTa p.R270I BTLA_ENST00000474965.1_5'UTR|BTLA_ENST00000383680.4_Missense_Mutation_p.R222I NM_181780.3 NP_861445.3 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated 270 T cell costimulation receptor activity breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1) 11 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) TCTTGCCAGTCTTGAGTTCGG 0.423000 4 109 0.150653 0.150653 1 1 0 MYL9 10398 broad.mit.edu 37 20 35173452 35173452 + Silent SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr20:35173452C>T ENST00000279022.2 + 2 269 c.165C>T c.(163-165)caC>caT p.H55H RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Silent_p.H55H|RP5-977B1.7_ENST00000439595.1_RNA NM_006097.4 NP_006088.2 P24844 MYL9_HUMAN myosin, light chain 9, regulatory 55 EF-hand 1. axon guidance|muscle contraction|regulation of muscle contraction cytosol|muscle myosin complex calcium ion binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(3)|lung(2) 8 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) AGGACCTGCACGACATGCTGG 0.547000 4 64 0 0 1 0 0 ZNF252P 0 broad.mit.edu 37 8 146220777 146220777 + RNA SNP A A G TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr8:146220777A>G ENST00000426361.2 - 0 245 NR_023392.1 endometrium(1) 1 GCCTACATGAAGAAGAGAGAA 0.428000 10 30 0 0 1 0 0 CEP44 80817 broad.mit.edu 37 4 175224899 175224899 + Nonsense_Mutation SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr4:175224899C>T ENST00000503780.1 + 5 697 c.283C>T c.(283-285)Cag>Tag p.Q95* CEP44_ENST00000426172.1_Nonsense_Mutation_p.Q95*|CEP44_ENST00000296519.4_Nonsense_Mutation_p.Q95*|CEP44_ENST00000457424.2_Nonsense_Mutation_p.Q95* NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 95 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 GACAAAAAAGCAGTTTATCCA 0.318000 12 16 0 0 1 0 0 LIPN 643418 broad.mit.edu 37 10 90524167 90524167 + Splice_Site SNP G G A TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr10:90524167G>A ENST00000404459.1 + 3 227 c.226_splice c.e3-1 p.G76_splice NM_001102469.1 NP_001095939.1 Q5VXI9 LIPN_HUMAN lipase, family member N 76 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) CCCCCACCAGGTCCCCGGCCA 0.453000 11 46 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70783246 70783246 + Missense_Mutation SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chrX:70783246C>T ENST00000373719.3 + 18 2550 c.2333C>T c.(2332-2334)cCt>cTt p.P778L OGT_ENST00000373701.3_Missense_Mutation_p.P768L NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 778 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) CCTGTTATTCCTATGAATACT 0.358000 6 63 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30433325 30433325 + Silent SNP G G A TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr20:30433325G>A ENST00000375978.3 - 1 95 c.21C>T c.(19-21)ccC>ccT p.P7P NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 7 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.P7P(1) kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 CGCCAGGCCCGGGCAGAGGCT 0.682000 21 51 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2825456 2825456 + Silent SNP G G A TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chrX:2825456G>A ENST00000381154.1 - 10 1713 c.1638C>T c.(1636-1638)gcC>gcT p.A546A NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 546 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCGACACCGCGGCACCTACCC 0.647000 12 12 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11181326 11181326 + Missense_Mutation SNP A A G TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr1:11181326A>G ENST00000361445.4 - 49 6986 c.6910T>C c.(6910-6912)Tgg>Cgg p.W2304R MTOR_ENST00000376838.1_Missense_Mutation_p.W509R NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2304 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CTTTTCAGCCACAGCAGCTTG 0.587000 8 23 0 0 1 0 0 KLHL40 131377 broad.mit.edu 37 3 42727549 42727549 + Missense_Mutation SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr3:42727549C>T ENST00000287777.4 + 1 539 c.439C>T c.(439-441)Cgt>Tgt p.R147C NM_152393.2 NP_689606.2 kelch-like family member 40 CGACTGCGCGCGTCTCGCCGT 0.652000 8 65 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55730230 55730230 + Missense_Mutation SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr16:55730230C>T ENST00000379906.2 + 8 1496 c.1241C>T c.(1240-1242)gCg>gTg p.A414V SLC6A2_ENST00000567238.1_Missense_Mutation_p.A309V|SLC6A2_ENST00000566163.1_Missense_Mutation_p.A369V|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A414V|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A414V|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A414V|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A414V NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 414 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) ATGCTCCTGGCGCTGGGCCTT 0.557000 4 71 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541619 55541619 + Missense_Mutation SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr11:55541619C>T ENST00000361760.1 + 1 706 c.706C>T c.(706-708)Cgc>Tgc p.R236C NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 236 R -> L (in dbSNP:rs7124871). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGCAAGTGGGCGCCAGAAAAC 0.408000 24 75 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22222729 22222729 + Missense_Mutation SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr1:22222729C>T ENST00000374695.3 - 2 217 c.138G>A c.(136-138)atG>atA p.M46I NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 46 angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GTGTCCAGCGCATTTGGCTTG 0.557000 31 112 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124348751 124348751 + Missense_Mutation SNP G G T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr10:124348751G>T ENST00000338354.3 + 17 2181 c.2075G>T c.(2074-2076)gGc>gTc p.G692V DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.G682V|DMBT1_ENST00000368955.3_Missense_Mutation_p.G682V|DMBT1_ENST00000368909.3_Missense_Mutation_p.G692V|DMBT1_ENST00000330163.4_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 692 SRCR 5. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CACAACTGTGGCCATCATGAA 0.542000 4 58 0.00024832 0.000265645 1 1 0 OR2W5 0 broad.mit.edu 37 1 247655187 247655187 + RNA SNP G G A TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr1:247655187G>A ENST00000522351.1 + 0 818 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R253Q(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TCTCTTCTACGGAACCATCAT 0.537000 11 72 0 0 1 0 0 UCKL1 54963 broad.mit.edu 37 20 62571549 62571549 + Silent SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr20:62571549C>T ENST00000369908.5 - 14 1775 c.1476G>A c.(1474-1476)gcG>gcA p.A492A UCKL1_ENST00000354216.6_Silent_p.A507A|UCKL1_ENST00000369892.3_Silent_p.A507A|UCKL1_ENST00000358711.3_3'UTR NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 507 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GCTTGTCCACCGCCGTGGTGA 0.602000 3 32 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10411951 10411951 + Missense_Mutation SNP C C A TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr17:10411951C>A ENST00000226207.5 - 16 1720 c.1626G>T c.(1624-1626)atG>atT p.M542I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 542 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity 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 CCTTGGGGAACATGCACTCCT 0.433000 19 75 1.42536e-11 1.63916e-11 1 1 0 GPRASP1 9737 broad.mit.edu 37 X 101911243 101911243 + Missense_Mutation SNP A A G TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chrX:101911243A>G ENST00000537097.1 + 6 3215 c.2402A>G c.(2401-2403)gAc>gGc p.D801G GPRASP1_ENST00000444152.1_Missense_Mutation_p.D801G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.D801G|GPRASP1_ENST00000361600.5_Missense_Mutation_p.D801G NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 801 Glu-rich. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGAGAAGAAGACAGGCTAGCA 0.527000 6 125 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578454 7578454 + Missense_Mutation SNP G G A TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr17:7578454G>A ENST00000420246.2 - 5 608 c.476C>T c.(475-477)gCc>gTc p.A159V TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 159 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGCCATGGCGCGGACGCG 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 47 6 0 0 1 0 0 RP11-182I10.3 0 broad.mit.edu 37 1 65451792 65451793 + RNA INS - - T rs113756498 TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr1:65451792_65451793insT ENST00000447748.1 - 0 1775 CAATCTAATTGttttttttttt 0.490 2 4 --- --- --- --- OCLM 10896 broad.mit.edu 37 1 186370195 186370196 + Frame_Shift_Del DEL AT AT - TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr1:186370195_186370196delAT ENST00000574641.1 + 1 492_493 c.18_19delAT c.(16-21)cctafs p.PL6fs C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron NM_022375.3 NP_071770.1 Q9Y5M6 TISR_HUMAN oculomedin 6 visual perception TGTATCCACCATTATTGTTAAA 0.356 10 175 --- --- --- --- IL36B 27177 broad.mit.edu 37 2 113786563 113786564 + Frame_Shift_Del DEL AG AG - TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr2:113786563_113786564delAG ENST00000259213.4 - 4 320_321 c.213_214delCT c.(211-216)ctgtfs p.LC71fs IL36B_ENST00000327407.2_Frame_Shift_Del_p.LC71fs NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 71 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 CAGAAGAGACAGAGATCTTTTC 0.411 7 86 --- --- --- --- COBLL1 22837 broad.mit.edu 37 2 165551407 165551408 + Frame_Shift_Del DEL TC TC - TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr2:165551407_165551408delTC ENST00000375458.2 - 11 2715_2716 c.2494_2495delGA c.(2494-2496)cfs p.D832fs COBLL1_ENST00000409184.3_Frame_Shift_Del_p.D870fs|COBLL1_ENST00000392717.2_Frame_Shift_Del_p.D908fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.D937fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.D870fs NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 908 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TGTGCCAGTGTCTCTTGTCATT 0.450 20 61 --- --- --- --- RP11-584P21.2 0 broad.mit.edu 37 4 68311853 68311855 + RNA DEL GAG GAG - TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr4:68311853_68311855delGAG ENST00000502400.1 - 0 34 TCTCTATGGCGAGGAGGAGGAGG 0.547 3 3 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 4 5 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102737945 102737945 + RNA DEL A A - rs28381681 TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr11:102737945delA ENST00000532855.1 - 0 1007 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) GTTTTCTGACAAAAAAAATTT 0.338 6 3 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76082491 76082491 + RNA DEL T T - rs141632958 TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr12:76082491delT ENST00000552856.1 - 0 401 attctTTTTCTTTTTTTTTTT 0.363 3 3 --- --- --- --- NCOR1P1 0 broad.mit.edu 37 20 26084428 26084428 + RNA DEL C C - TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr20:26084428delC ENST00000478176.1 - 0 150 NR_003678.1 TCTAATGAAACCTTTAGTAGT 0.313 3 6 --- --- --- --- EMID1 129080 broad.mit.edu 37 22 29630137 29630137 + Frame_Shift_Del DEL C C - TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chr22:29630137delC ENST00000334018.6 + 11 1166 c.978delC c.(976-978)ggfs p.G326fs EMID1_ENST00000404755.3_Intron|EMID1_ENST00000404820.3_Frame_Shift_Del_p.G326fs NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 324 Collagen-like. collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 GACCCCCAGGCCCCACTGGAC 0.642 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76814303 76814306 + Frame_Shift_Del DEL ATAA ATAA - TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 952ca0aa-58ee-4267-9db2-6d27b3ad9012 a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e g.chrX:76814303_76814306delATAA ENST00000373344.5 - 29 6552_6555 c.6338_6341delTTAT c.(6337-6342)tcfs p.FI2113fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2113 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.F2113fs*9(1)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGTAGAAATGATAAATAATCGTCC 0.289 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 14 25 --- --- --- ---