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 KLHL20 27252 broad.mit.edu 37 1 173721044 173721044 + Missense_Mutation SNP C C A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr1:173721044C>A ENST00000209884.4 + 4 875 c.739C>A c.(739-741)Cgt>Agt p.R247S KLHL20_ENST00000546011.1_Missense_Mutation_p.R58S NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 247 BACK. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 TCAGGAAAGACGTCCTCAATT 0.443 13 26 --- --- --- --- CD34 947 broad.mit.edu 37 1 208062058 208062058 + Missense_Mutation SNP C C T rs146542924 TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr1:208062058C>T ENST00000356522.4 - 7 1262 c.941G>A c.(940-942)cGc>cAc p.R314H CD34_ENST00000537704.1_Missense_Mutation_p.R179H|CD34_ENST00000310833.7_Missense_Mutation_p.R314H|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.R156H NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 314 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 CCAGCTGCGGCGATTCATCAG 0.562 85 104 --- --- --- --- RAB4A 5867 broad.mit.edu 37 1 229431652 229431652 + Silent SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr1:229431652C>T ENST00000366690.4 + 4 493 c.285C>T c.(283-285)atC>atT p.I95I RAB4A_ENST00000473894.1_3'UTR NM_004578.2 NP_004569.2 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family 90 GDP binding|GTP binding|GTPase activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) TCTATGATATCACCAGGTAAT 0.562 16 25 --- --- --- --- GOLGA4 2803 broad.mit.edu 37 3 37367122 37367122 + Missense_Mutation SNP A A G TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr3:37367122A>G ENST00000361924.2 + 14 4119 c.3745A>G c.(3745-3747)Agg>Ggg p.R1249G GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1271G|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1249 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CATTCTTTCTAGGATTTCTCA 0.348 30 46 --- --- --- --- TFG 10342 broad.mit.edu 37 3 100447586 100447586 + Missense_Mutation SNP G G C rs77118429 by1000genomes TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr3:100447586G>C ENST00000240851.4 + 4 639 c.299G>C c.(298-300)aGt>aCt p.S100T TFG_ENST00000476228.1_Missense_Mutation_p.S100T|TFG_ENST00000418917.2_Missense_Mutation_p.S100T|TFG_ENST00000490574.1_Missense_Mutation_p.S100T NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 100 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 CTTGAATCAAGTCAGGTGAAA 0.368 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 45 40 --- --- --- --- CDH9 1007 broad.mit.edu 37 5 26902661 26902661 + Missense_Mutation SNP C C A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr5:26902661C>A ENST00000231021.4 - 7 1349 c.1177G>T c.(1177-1179)Gat>Tat p.D393Y NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 393 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 ACATCTTCATCTACTTCTATC 0.378 5 70 --- --- --- --- CDH6 1004 broad.mit.edu 37 5 31318075 31318075 + Silent SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr5:31318075C>T ENST00000514738.1 + 11 2191 c.1761C>T c.(1759-1761)ggC>ggT p.G587G CDH6_ENST00000265071.2_Intron P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 0 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGGTGAGGGGCTCACACTGTT 0.522 20 21 --- --- --- --- EYS 346007 broad.mit.edu 37 6 66115238 66115238 + Silent SNP T T G TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr6:66115238T>G ENST00000503581.1 - 6 1422 c.885A>C c.(883-885)gcA>gcC p.A295A EYS_ENST00000393380.2_Silent_p.A295A|EYS_ENST00000342421.5_Silent_p.A295A|EYS_ENST00000370621.3_Silent_p.A295A|EYS_ENST00000370616.2_Silent_p.A295A|EYS_ENST00000370618.3_Silent_p.A295A NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 295 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CACAAGGTTTTGCTGACACCT 0.363 56 65 --- --- --- --- DDX56 54606 broad.mit.edu 37 7 44611159 44611159 + Silent SNP T T C TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr7:44611159T>C ENST00000258772.5 - 6 928 c.822A>G c.(820-822)ctA>ctG p.L274L DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.L274L NM_001257189.1|NM_019082.3 NP_001244118.1|NP_061955.1 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 56 274 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 AGAACAGGCGTAGCCGGTAAC 0.512 17 35 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151877201 151877201 + Nonsense_Mutation SNP A A C TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr7:151877201A>C ENST00000355193.2 - 37 7378 c.7160T>G c.(7159-7161)tTa>tGa p.L2387* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.L2387* lysine (K)-specific methyltransferase 2C GATTTCACGTAACTTCTGCCG 0.443 55 69 --- --- --- --- TTC39B 158219 broad.mit.edu 37 9 15185290 15185290 + Missense_Mutation SNP G G C TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr9:15185290G>C ENST00000512701.2 - 16 1638 c.1602C>G c.(1600-1602)atC>atG p.I534M TTC39B_ENST00000507285.1_Missense_Mutation_p.I369M|TTC39B_ENST00000355694.2_Missense_Mutation_p.I468M|TTC39B_ENST00000507993.1_Missense_Mutation_p.I369M|TTC39B_ENST00000380850.4_Missense_Mutation_p.I521M|TTC39B_ENST00000297615.5_Missense_Mutation_p.I465M Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 GGGCAGGTAAGATGAGCTTCA 0.438 5 82 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119903633 119903633 + Silent SNP C C G TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr9:119903633C>G ENST00000313400.4 - 4 1240 c.1140G>C c.(1138-1140)ggG>ggC p.G380G ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.G380G O75129 ASTN2_HUMAN astrotactin 2 380 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GCTTCCTCTTCCCTGCCGATG 0.577 19 17 --- --- --- --- FANK1 92565 broad.mit.edu 37 10 127677139 127677139 + Missense_Mutation SNP G G C TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr10:127677139G>C ENST00000368695.1 + 3 315 c.193G>C c.(193-195)Gtt>Ctt p.V65L FANK1_ENST00000368689.1_Missense_Mutation_p.V65L|FANK1_ENST00000368693.1_Missense_Mutation_p.V71L|FANK1_ENST00000449042.2_Missense_Mutation_p.V65L NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 71 Fibronectin type-III. cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) AACGAAGCATGTTGTTGAAGG 0.512 6 113 --- --- --- --- ZNF143 7702 broad.mit.edu 37 11 9500066 9500066 + Missense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr11:9500066G>A ENST00000396602.2 + 6 622 c.503G>A c.(502-504)gGt>gAt p.G168D ZNF143_ENST00000299606.2_Missense_Mutation_p.G140D|ZNF143_ENST00000396604.1_Missense_Mutation_p.G167D|ZNF143_ENST00000396597.3_Missense_Mutation_p.G137D|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167D NM_001282656.1|NM_001282657.1|NM_003442.5 NP_001269585.1|NP_001269586.1|NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 168 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) ACAGTGGCAGGTCTGCACACT 0.493 35 41 --- --- --- --- OR4C3 256144 broad.mit.edu 37 11 48347461 48347461 + Missense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr11:48347461G>A ENST00000319856.4 + 1 990 c.969G>A c.(967-969)atG>atA p.M323I NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 AAAATGCCATGAGAAAGCTCT 0.328 14 24 --- --- --- --- TEX26 122046 broad.mit.edu 37 13 31531142 31531142 + Nonsense_Mutation SNP A A T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr13:31531142A>T ENST00000380473.3 + 4 458 c.445A>T c.(445-447)Aga>Tga p.R149* TEX26_ENST00000530916.1_3'UTR NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 149 CCTTACTAAGAGAGACTTTGT 0.438 24 72 --- --- --- --- ISM2 145501 broad.mit.edu 37 14 77948909 77948909 + Silent SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr14:77948909G>A ENST00000393684.3 - 5 856 c.465C>T c.(463-465)ccC>ccT p.P155P ISM2_ENST00000342219.4_Silent_p.P243P|ISM2_ENST00000429906.1_Silent_p.P162P|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000412904.1_Silent_p.P162P Q6H9L7 ISM2_HUMAN isthmin 2 243 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 ACCAGAGGGCGGGCAGCCAGC 0.607 27 37 --- --- --- --- ONECUT1 3175 broad.mit.edu 37 15 53081526 53081526 + Missense_Mutation SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr15:53081526C>T ENST00000305901.5 - 1 683 c.556G>A c.(556-558)Ggt>Agt p.G186S ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 186 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) CTGCCCAGACCGGAGCTGGAG 0.667 27 32 --- --- --- --- ACSBG1 23205 broad.mit.edu 37 15 78526789 78526789 + Silent SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr15:78526789G>A ENST00000258873.4 - 1 260 c.55C>T c.(55-57)Ctg>Ttg p.L19L ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 19 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 CTGCTGTCCAGCATGCTGGGG 0.562 76 105 --- --- --- --- ITSN1 6453 broad.mit.edu 37 21 35190641 35190641 + Missense_Mutation SNP A A C TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr21:35190641A>C ENST00000381318.3 + 23 3086 c.2798A>C c.(2797-2799)aAt>aCt p.N933T ITSN1_ENST00000399367.3_Missense_Mutation_p.N928T|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.N933T|ITSN1_ENST00000437442.2_Missense_Mutation_p.N928T|ITSN1_ENST00000399355.2_Missense_Mutation_p.N933T|ITSN1_ENST00000381285.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399326.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399352.1_Missense_Mutation_p.N928T|ITSN1_ENST00000399353.1_Missense_Mutation_p.N891T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.N928T NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 933 SH3 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 AACCACTTAAATTTTAACAAA 0.453 6 59 --- --- --- --- GLUD2 2747 broad.mit.edu 37 X 120182329 120182329 + Missense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chrX:120182329G>A ENST00000328078.1 + 1 868 c.791G>A c.(790-792)gGa>gAa p.G264E NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 264 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) AGCCAAGGGGGAATCCATGGA 0.478 32 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578555 7578556 + Splice_Site DEL CT CT - TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr17:7578555_7578556delCT ENST00000420246.2 - 5 508 c.e5-1 TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(72)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) CAGGGGAGTACTGTAGGAAGAG 0.554 111 """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) 6 5 --- --- --- ---