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 CYP11B1 0 broad.mit.edu 37 8 143956706 143956706 + Silent SNP G G A rs138706121 TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr8:143956706G>A ENST00000292427.4 - 7 1176 c.1144C>T c.(1144-1146)Ctg>Ttg p.L382L CYP11B1_ENST00000517471.1_Silent_p.L382L|CYP11B1_ENST00000377675.3_Silent_p.L453L NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 382 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity p.L382L(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) ACTCGCTCCAGAAACAGACCC 0.607000 Familial Hyperaldosteronism type I 4 40 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 76 0 0 1 0 0 GUCA1A 2978 broad.mit.edu 37 6 42141269 42141269 + Translation_Start_Site SNP G G A rs9471793 by1000genomes TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr6:42141269G>A ENST00000394237.1 + 0 894 GUCA1A_ENST00000541991.1_De_novo_Start_OutOfFrame|GUCA1A_ENST00000372958.1_De_novo_Start_OutOfFrame|GUCA1A_ENST00000053469.4_De_novo_Start_OutOfFrame P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGACGGCCCCGTTGTCGGCCA 0.602000 3 30 0 0 1 0 0 AAAS 8086 broad.mit.edu 37 12 53715180 53715180 + Missense_Mutation SNP C C T TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr12:53715180C>T ENST00000209873.4 - 1 235 c.70G>A c.(70-72)Gag>Aag p.E24K AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Missense_Mutation_p.E24K|AAAS_ENST00000550286.1_Intron NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 24 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 GTCACCAGCTCGTTATTGTGC 0.652000 OREG0021865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 184 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 35 91 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6524 6524 + Missense_Mutation SNP T T C TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chrM:6524T>C ENST00000361624.2 + 1 621 c.621T>C c.(619-621)acT>acC p.207_207insT mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 GCTGGCATCACTATACTACTA 0.517000 3 50 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25490518 25490518 + RNA SNP T T C rs1969608 by1000genomes TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr15:25490518T>C ENST00000453082.2 + 0 2669 NR_003343.1 ACCCCCAGTGTGCTGAAGCTC 0.622000 3 46 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 38 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 4 66 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47864326 47864326 + Silent SNP G G A TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr20:47864326G>A ENST00000396105.1 - 14 5481 c.5235C>T c.(5233-5235)cgC>cgT p.R1745R ZNFX1_ENST00000371752.1_Silent_p.R1745R|ZNFX1_ENST00000371754.4_Intron NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1745 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGAAGCTCAAGCGCTTCTTGG 0.502000 5 102 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52864966 52864966 + Missense_Mutation SNP C C T TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr12:52864966C>T ENST00000252250.6 - 5 1074 c.1027G>A c.(1027-1029)Gag>Aag p.E343K NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 343 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) TGAGCAATCTCCTCGTATTGG 0.577000 7 248 0 0 1 0 0 NOL9 79707 broad.mit.edu 37 1 6601950 6601950 + Nonsense_Mutation SNP G G A TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr1:6601950G>A ENST00000377705.5 - 6 1047 c.1015C>T c.(1015-1017)Cag>Tag p.Q339* NM_024654.4 NP_078930.3 Q5SY16 NOL9_HUMAN nucleolar protein 9 339 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) AATTCTGTCTGTCCCAGATCA 0.343000 3 37 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42133313 42133313 + Missense_Mutation SNP C C T rs112325334 TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr19:42133313C>T ENST00000221954.2 - 1 129 c.19G>A c.(19-21)Gct>Act p.A7T CEACAM4_ENST00000600925.1_Missense_Mutation_p.A7T NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 7 integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 CCACGGGGAGCGGCTGAGGGG 0.652000 15 22 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146697048 146697048 + Missense_Mutation SNP C C G TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr4:146697048C>G ENST00000508784.1 - 10 2813 c.2586G>C c.(2584-2586)caG>caC p.Q862H ZNF827_ENST00000513320.1_Missense_Mutation_p.Q512H|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q862H Q17R98 ZN827_HUMAN zinc finger protein 827 862 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) CGGTCAAGTGCTGGTTCAGAT 0.502000 4 80 0 0 1 0 0 PRNP 5621 broad.mit.edu 37 20 4680251 4680251 + Missense_Mutation SNP A A G rs1799990 byFrequency TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr20:4680251A>G ENST00000379440.4 + 2 672 c.385A>G c.(385-387)Atg>Gtg p.M129V PRNP_ENST00000430350.2_Missense_Mutation_p.M129V NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2 NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1 P04156 PRIO_HUMAN prion protein 129 Interaction with GRB2, ERI3 and SYN1 (By similarity). M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding p.M129V(2) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) TGGCGGCTACATGCTGGGAAG 0.547000 4 95 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495497 6495497 + Missense_Mutation SNP C C T TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr19:6495497C>T ENST00000264071.2 - 4 1384 c.1013G>A c.(1012-1014)aGc>aAc p.S338N TUBB4A_ENST00000540257.1_Missense_Mutation_p.S338N P04350 TBB4_HUMAN tubulin, beta 4A class IVa 338 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity GAAGTAGCTGCTGTTCTTGCT 0.657000 7 271 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135556 55135556 + Missense_Mutation SNP C C T TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr11:55135556C>T ENST00000314706.3 + 1 197 c.197C>T c.(196-198)aCg>aTg p.T66M NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T66M(2) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TACATGGTGACGATAATGGGC 0.423000 3 57 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25479337 25479337 + RNA SNP A A G rs2714758 by1000genomes TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr15:25479337A>G ENST00000453082.2 + 0 1878 NR_003343.1 CTGAGCTGTGATGACCATATC 0.572000 6 132 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561444 145561444 + Silent SNP C C T TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr1:145561444C>T ENST00000355594.4 + 10 1219 c.1132C>T c.(1132-1134)Ctg>Ttg p.L378L NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 378 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TAAGGACCTGCTGGCTGAGAG 0.562000 21 37 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-EM-A4FU-01A-11D-A257-08 TCGA-EM-A4FU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31cf35c-b7f8-4d90-8cd1-848e85adc37c 5f85bdc6-3c1c-4257-82c2-52c399e9b322 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 4 6 --- --- --- ---