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 RP11-707M1.1 0 broad.mit.edu 37 11 49831624 49831624 + RNA SNP T T C TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr11:49831624T>C ENST00000527477.1 + 0 1849 ACCTCCCCAGTTACACTGCAG 0.443000 54 65 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122821049 122821049 + Missense_Mutation SNP A A T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr7:122821049A>T ENST00000194130.2 - 2 245 c.206T>A c.(205-207)tTt>tAt p.F69Y SLC13A1_ENST00000539873.1_Missense_Mutation_p.F5Y NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 69 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) CATGATCCCAAACATGGGTAA 0.398000 33 32 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49132445 49132445 + Silent SNP T T C TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr19:49132445T>C ENST00000443164.1 + 5 2271 c.1566T>C c.(1564-1566)gcT>gcC p.A522A SPHK2_ENST00000599029.1_Silent_p.A424A|SPHK2_ENST00000598088.1_Silent_p.A460A|SPHK2_ENST00000600537.1_Silent_p.A401A|SPHK2_ENST00000599748.1_Silent_p.A424A|SPHK2_ENST00000340932.3_Silent_p.A422A|SPHK2_ENST00000245222.4_Silent_p.A460A Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 460 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GGGGTGGGGCTGGGGATGCTC 0.687000 88 123 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49693561 49693561 + Missense_Mutation SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr19:49693561C>T ENST00000252826.5 + 15 2242 c.2116C>T c.(2116-2118)Cgc>Tgc p.R706C TRPM4_ENST00000355712.5_Missense_Mutation_p.R352C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R706C NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 706 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CATCTACACCCGCCTCATCAC 0.597000 9 212 0 0 1 0 0 ZNF337 26152 broad.mit.edu 37 20 25656710 25656710 + Missense_Mutation SNP A A G TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr20:25656710A>G ENST00000376436.1 - 4 1753 c.1214T>C c.(1213-1215)gTg>gCg p.V405A ZNF337_ENST00000538750.1_Missense_Mutation_p.V373A|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.V405A zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ATCCTTGCACACAAAAGGCTT 0.488000 48 70 0 0 1 0 0 AKT1 207 broad.mit.edu 37 14 105246551 105246551 + Missense_Mutation SNP C C T rs34409589 TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr14:105246551C>T ENST00000554581.1 - 2 1529 c.49G>A c.(49-51)Gag>Aag p.E17K AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 17 PH. E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane). activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity p.E17K(102) NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TTGATGTACTCCCCTACAGAC 0.612000 E17K(KU1919_URINARY_TRACT) 1 Mis """breast, colorectal, ovarian, NSCLC""" 17 33 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 4 72 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38087109 38087109 + Missense_Mutation SNP G G C TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr3:38087109G>C ENST00000308059.6 + 2 508 c.487G>C c.(487-489)Gct>Cct p.A163P DLEC1_ENST00000452631.2_Missense_Mutation_p.A163P|DLEC1_ENST00000346219.3_Missense_Mutation_p.A163P Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 163 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CCAAGCACGGGCTATTGCGGA 0.532000 53 52 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42830261 42830261 + Missense_Mutation SNP C C G TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr6:42830261C>G ENST00000314073.5 + 12 2539 c.2363C>G c.(2362-2364)tCt>tGt p.S788C GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S788C GLTSCR1-like ATCAATCCCTCTGCTGAGATG 0.403000 12 257 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95728775 95728775 + Missense_Mutation SNP G G A TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr5:95728775G>A ENST00000311106.3 - 14 2429 c.2192C>T c.(2191-2193)aCt>aTt p.T731I PCSK1_ENST00000508626.1_Missense_Mutation_p.T684I|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 731 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTAAGGTTTAGTGTTATAAAA 0.398000 25 292 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976630 38976630 + Missense_Mutation SNP C C G TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr19:38976630C>G ENST00000355481.4 + 34 5466 c.5335C>G c.(5335-5337)Ccc>Gcc p.P1779A RYR1_ENST00000359596.3_Missense_Mutation_p.P1779A|RYR1_ENST00000360985.3_Missense_Mutation_p.P1779A NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1779 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCATTTCTCGCCCCCCTGTTT 0.682000 54 71 0 0 1 0 0 INTS10 55174 broad.mit.edu 37 8 19677984 19677984 + Missense_Mutation SNP G G T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr8:19677984G>T ENST00000397977.3 + 4 794 c.396G>T c.(394-396)ttG>ttT p.L132F INTS10_ENST00000521758.1_Intron NM_018142.2 NP_060612.2 Q9NVR2 INT10_HUMAN integrator complex subunit 10 132 Poly-Leu. snRNA processing integrator complex protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 20 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) CAGAAATGTTGCTTCTACTTT 0.423000 39 78 3.66854e-30 4.02129e-30 1 1 0 RTTN 25914 broad.mit.edu 37 18 67673627 67673627 + Missense_Mutation SNP T T C TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr18:67673627T>C ENST00000255674.6 - 47 6801 c.6515A>G c.(6514-6516)aAt>aGt p.N2172S RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 2172 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) CTTCTGATAATTGTAAATCAG 0.398000 48 48 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34649404 34649404 + Silent SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr15:34649404C>T ENST00000537011.1 + 8 3577 c.3195C>T c.(3193-3195)ctC>ctT p.L1065L NUTM1_ENST00000333756.4_Silent_p.L1037L|NUTM1_ENST00000438749.3_Silent_p.L1055L NUT midline carcinoma, family member 1 AGCATCCCCTCAGTCCTCACC 0.532000 48 64 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118377160 118377160 + Missense_Mutation SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr11:118377160C>T ENST00000534358.1 + 27 10576 c.10553C>T c.(10552-10554)tCt>tTt p.S3518F KMT2A_ENST00000389506.5_Missense_Mutation_p.S3515F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3477F NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CCTGGGGGTTCTCCATCCTCT 0.547000 59 78 0 0 1 0 0 GAS2L3 283431 broad.mit.edu 37 12 101017896 101017896 + Missense_Mutation SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr12:101017896C>T ENST00000537247.1 + 10 1955 c.1001C>T c.(1000-1002)tCc>tTc p.S334F GAS2L3_ENST00000547754.1_Missense_Mutation_p.S438F|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S438F|GAS2L3_ENST00000539410.1_Missense_Mutation_p.S438F Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 438 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 TGTATTTCATCCCCCAATACC 0.433000 9 207 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25475840 25475840 + RNA SNP G G A TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr15:25475840G>A ENST00000453082.2 + 0 1435 NR_003343.1 TGTCGGCCTCGCTTTTCCTGG 0.607000 15 80 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5755545 5755545 + Missense_Mutation SNP C C A TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr4:5755545C>A ENST00000382674.2 + 10 1533 c.1349C>A c.(1348-1350)gCg>gAg p.A450E EVC_ENST00000264956.6_Missense_Mutation_p.A450E|EVC_ENST00000509451.1_Missense_Mutation_p.A450E P57679 EVC_HUMAN Ellis van Creveld syndrome 450 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) CTGGTCACGGCGTCTCTGGCT 0.582000 68 87 1.53134e-21 1.64691e-21 1 1 0 POGLUT1 56983 broad.mit.edu 37 3 119210390 119210390 + Missense_Mutation SNP A A G TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr3:119210390A>G ENST00000295588.4 + 10 1075 c.991A>G c.(991-993)Aat>Gat p.N331D NM_152305.2 NP_689518.1 Q8NBL1 PGLT1_HUMAN protein O-glucosyltransferase 1 331 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 TGTAAAAGCAAATGATGATGT 0.348000 11 22 0 0 1 0 0 PDHX 8050 broad.mit.edu 37 11 34938261 34938261 + Missense_Mutation SNP T T G TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr11:34938261T>G ENST00000227868.4 + 1 143 c.59T>G c.(58-60)tTc>tGc p.F20C PDHX_ENST00000430469.2_Missense_Mutation_p.F20C|PDHX_ENST00000448838.3_Intron O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 20 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 16 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) CTTGTGGGCTTCCCCGGCCGC 0.642000 22 31 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1029335 1029335 + Missense_Mutation SNP C C G TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr11:1029335C>G ENST00000421673.2 - 10 1218 c.1168G>C c.(1168-1170)Gag>Cag p.E390Q NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 390 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CACGGCCGCTCCGTGCACACC 0.687000 9 21 0 0 1 0 0 RAB40A 142684 broad.mit.edu 37 X 102754896 102754896 + Silent SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chrX:102754896C>T ENST00000372633.1 - 1 2907 c.789G>A c.(787-789)caG>caA p.Q263Q RAB40A_ENST00000304236.1_Silent_p.Q263Q|LL0XNC01-250H12.3_ENST00000445990.1_RNA Q8WXH6 RB40A_HUMAN RAB40A, member RAS oncogene family 263 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 12 TGGGTGGGCTCTGGGGTGGGC 0.527000 7 227 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10262175 10262175 + Missense_Mutation SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr19:10262175C>T ENST00000340748.4 - 23 2351 c.2116G>A c.(2116-2118)Gat>Aat p.D706N DNMT1_ENST00000359526.4_Missense_Mutation_p.D722N|DNMT1_ENST00000540357.1_Missense_Mutation_p.D706N P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 706 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) ATGTTATCATCGACTTCCTCA 0.488000 27 248 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924786 188924786 + Silent SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr4:188924786C>T ENST00000326866.4 + 4 1233 c.825C>T c.(823-825)ttC>ttT p.F275F ZFP42_ENST00000509524.1_Silent_p.F275F NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 275 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) AGAAACGTTTCGTGTGTCCCT 0.488000 4 101 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262720 45262720 + Missense_Mutation SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr5:45262720C>T ENST00000303230.4 - 8 2033 c.1976G>A c.(1975-1977)cGc>cAc p.R659H NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 659 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.R659L(2) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGTCCTCATGCGGGAGGTCGG 0.567000 62 67 0 0 1 0 0 RER1 11079 broad.mit.edu 37 1 2334476 2334476 + Silent SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr1:2334476C>T ENST00000605895.1 + 7 637 c.504C>T c.(502-504)caC>caT p.H168H RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Silent_p.H168H|RER1_ENST00000378512.1_3'UTR NM_007033.4 NP_008964.3 O15258 RER1_HUMAN retention in endoplasmic reticulum sorting receptor 1 168 HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). retrograde vesicle-mediated transport, Golgi to ER integral to Golgi membrane endometrium(3)|kidney(1) 4 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204) CTCCCCAGCACATGATTAAGT 0.542000 48 101 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118377159 118377159 + Missense_Mutation SNP T T G TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr11:118377159T>G ENST00000534358.1 + 27 10575 c.10552T>G c.(10552-10554)Tct>Gct p.S3518A KMT2A_ENST00000389506.5_Missense_Mutation_p.S3515A|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3477A NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TCCTGGGGGTTCTCCATCCTC 0.547000 58 79 0 0 1 0 0 MCHR1 0 broad.mit.edu 37 22 41077325 41077325 + Missense_Mutation SNP C C A TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr22:41077325C>A ENST00000249016.4 + 2 1358 c.662C>A c.(661-663)aCg>aAg p.T221K MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 221 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 ATCTCTTCCACGAAGTTCCGG 0.587000 75 159 1.4051e-37 1.57041e-37 1 1 0 PPP6R3 55291 broad.mit.edu 37 11 68369335 68369335 + Missense_Mutation SNP A A G TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr11:68369335A>G ENST00000393799.2 + 21 2464 c.2197A>G c.(2197-2199)Aaa>Gaa p.K733E PPP6R3_ENST00000393801.3_Missense_Mutation_p.K733E|PPP6R3_ENST00000393800.2_Missense_Mutation_p.K733E|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K653E|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K687E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K698E|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K704E|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K653E|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K727E|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K501E Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 733 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TGAAAGCACAAAAGATTCTTT 0.443000 73 110 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68582878 68582878 + Missense_Mutation SNP C C T rs141658962 TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr11:68582878C>T ENST00000265641.5 - 2 219 c.65G>A c.(64-66)cGg>cAg p.R22Q CPT1A_ENST00000376618.2_Missense_Mutation_p.R22Q|CPT1A_ENST00000540367.1_Missense_Mutation_p.R22Q|CPT1A_ENST00000539743.1_Missense_Mutation_p.R22Q NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 22 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) ATGGCTCAGCCGCAGGTCAAT 0.458000 16 80 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17559436 17559436 + Silent SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr1:17559436C>T ENST00000375471.4 + 11 1376 c.1284C>T c.(1282-1284)ggC>ggT p.G428G NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 428 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) ACCCCCTGGGCCGGATCCTCA 0.692000 18 18 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93567883 93567883 + Missense_Mutation SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr15:93567883C>T ENST00000394196.4 + 39 6503 c.5435C>T c.(5434-5436)tCa>tTa p.S1812L NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1812 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TTGGAGAGATCACTAGAACAG 0.463000 6 105 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134232918 134232918 + Silent SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr8:134232918C>T ENST00000250160.6 + 3 550 c.444C>T c.(442-444)gaC>gaT p.D148D WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000220856.6_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 148 VWFC. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding p.D148E(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CGTGCATCGACGGCGCGGTGG 0.667000 64 122 0 0 1 0 0 DNAJA2 10294 broad.mit.edu 37 16 46998681 46998681 + Missense_Mutation SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr16:46998681C>T ENST00000317089.5 - 6 831 c.616G>A c.(616-618)Gaa>Aaa p.E206K NM_005880.3 NP_005871.1 O60884 DNJA2_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 2 206 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 14 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) TTCTTCCCTTCACATTTTTTA 0.383000 48 78 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 45 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100232046 100232046 + Missense_Mutation SNP C C G TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr4:100232046C>G ENST00000305046.8 - 8 1046 c.979G>C c.(979-981)Gaa>Caa p.E327Q ADH1B_ENST00000394887.3_Missense_Mutation_p.E287Q P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 327 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GGGATACCTTCTTTACTCTTA 0.328000 74 117 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30666042 30666042 + Missense_Mutation SNP C C T rs147047966 TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr16:30666042C>T ENST00000542965.2 + 7 1207 c.751C>T c.(751-753)Cgt>Tgt p.R251C PRR14_ENST00000300835.4_Missense_Mutation_p.R251C Q9BWN1 PRR14_HUMAN proline rich 14 251 Pro-rich. breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) CCCGCTCTTCCGTTCCGTCCG 0.642000 5 115 0 0 1 0 0 FAM122A 116224 broad.mit.edu 37 9 71395286 71395286 + Missense_Mutation SNP A A G TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr9:71395286A>G ENST00000394264.3 + 1 323 c.206A>G c.(205-207)cAc>cGc p.H69R PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron NM_138333.3 NP_612206.3 Q96E09 F122A_HUMAN family with sequence similarity 122A 69 endometrium(1)|lung(2) 3 CCGAGCCGCCACGGCCTGCTG 0.657000 58 100 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 46 61 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1527562 1527562 + Missense_Mutation SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr7:1527562C>T ENST00000389470.4 - 20 2733 c.2734G>A c.(2734-2736)Gat>Aat p.D912N INTS1_ENST00000404767.3_Missense_Mutation_p.D784N Q8N201 INT1_HUMAN integrator complex subunit 1 784 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GTCTCCTCATCCGTCAGGGTG 0.677000 8 290 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71056321 71056321 + Missense_Mutation SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr12:71056321C>T ENST00000283228.2 - 11 2014 c.1562G>A c.(1561-1563)aGt>aAt p.S521N PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Missense_Mutation_p.S276N|PTPRR_ENST00000342084.4_Missense_Mutation_p.S409N|PTPRR_ENST00000378778.1_Missense_Mutation_p.S315N|PTPRR_ENST00000549308.1_Missense_Mutation_p.S276N NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 521 Tyrosine-protein phosphatase. in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TTCATTTACACTGATAACCAG 0.363000 23 39 0 0 1 0 0 MSANTD4 84437 broad.mit.edu 37 11 105880518 105880518 + Missense_Mutation SNP C C T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr11:105880518C>T ENST00000301919.4 - 3 2197 c.782G>A c.(781-783)aGa>aAa p.R261K NM_032424.1 NP_115800.1 Q8NCY6 K1826_HUMAN Myb/SANT-like DNA-binding domain containing 4 with coiled-coils 261 nucleus CAACTTTTCTCTTTCAATCTG 0.443000 69 107 0 0 1 0 0 RP11-85M11.2 0 broad.mit.edu 37 3 165320478 165320481 + RNA DEL TATA TATA - rs150429698 TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr3:165320478_165320481delTATA ENST00000496693.1 + 0 508 atttttattttatatatatatata 0.314 2 4 --- --- --- --- RP11-114H24.2 0 broad.mit.edu 37 15 78215586 78215587 + RNA INS - - T TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr15:78215586_78215587insT ENST00000567226.1 - 0 225 AAAATGAGAAATTTAAAAAAAA 0.441 4 2 --- --- --- --- RBBP6 5930 broad.mit.edu 37 16 24583713 24583718 + In_Frame_Del DEL AAAGAG AAAGAG - TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr16:24583713_24583718delAAAGAG ENST00000319715.4 + 18 5758_5763 c.5326_5331delAAAGAG c.(5326-5331)del p.KE1780del RBBP6_ENST00000381039.3_In_Frame_Del_p.KE940del|RBBP6_ENST00000348022.2_In_Frame_Del_p.KE1746del NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1780 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) gaacaaagataaagagaaggagaagg 0.311 5 4 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58064624 58064625 + RNA DEL TT TT - TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr17:58064624_58064625delTT ENST00000586209.1 + 0 158 ttTTTTGGTGTTTTTttttttt 0.351 2 4 --- --- --- --- PPM1D 8493 broad.mit.edu 37 17 58740540 58740544 + Frame_Shift_Del DEL TGACT TGACT - TCGA-E8-A418-01A-11D-A23M-08 TCGA-E8-A418-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63ea274b-d42b-4787-9c54-8ee95ea376ec e20b80fd-0ac9-4507-b307-3915e218603e g.chr17:58740540_58740544delTGACT ENST00000305921.3 + 6 1677_1681 c.1445_1449delTGACT c.(1444-1449)cfs p.LT482fs NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 482 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) GCTAAAGCCCTGACTTTAAGGATAC 0.385 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 37 69 --- --- --- ---