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 TGOLN2 10618 broad.mit.edu 37 2 85554507 85554507 + Silent SNP C C T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr2:85554507C>T ENST00000377386.3 - 2 810 c.348G>A c.(346-348)gcG>gcA p.A116A TGOLN2_ENST00000409232.3_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A O43493 TGON2_HUMAN trans-golgi network protein 2 116 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding TTGTGGTCTGCGCCTCCGAAC 0.572000 6 699 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102442099 102442099 + Missense_Mutation SNP A A G TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr14:102442099A>G ENST00000360184.4 + 2 471 c.307A>G c.(307-309)Atc>Gtc p.I103V NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 103 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TTCCTATAACATCAACATAGA 0.279000 28 45 0 0 1 0 0 JTB 10899 broad.mit.edu 37 1 153947268 153947268 + Missense_Mutation SNP C C T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr1:153947268C>T ENST00000271843.4 - 5 763 c.328G>A c.(328-330)Gaa>Aaa p.E110K JTB_ENST00000356648.1_Missense_Mutation_p.E81K|JTB_ENST00000368589.1_Missense_Mutation_p.E81K NM_006694.3 NP_006685.1 O76095 JTB_HUMAN jumping translocation breakpoint 110 apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle protein kinase binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6) 10 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACAGCCCCTTCGAACTTCCAA 0.502000 21 47 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655803 12655803 + Missense_Mutation SNP C C T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr17:12655803C>T ENST00000425538.1 + 10 1398 c.1198C>T c.(1198-1200)Cgg>Tgg p.R400W MYOCD_ENST00000395988.1_Missense_Mutation_p.R304W|MYOCD_ENST00000343344.4_Missense_Mutation_p.R400W NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 400 SAP. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TCTCATGGACCGGCTTCGACC 0.507000 6 38 0 0 1 0 0 SUN3 256979 broad.mit.edu 37 7 48046774 48046774 + Silent SNP C C T rs150352113 by1000genomes TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr7:48046774C>T ENST00000453192.2 - 6 687 c.444G>A c.(442-444)ccG>ccA p.P148P SUN3_ENST00000395572.2_Silent_p.P160P|SUN3_ENST00000412142.1_Silent_p.P60P|SUN3_ENST00000297325.4_Silent_p.P160P Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 160 integral to membrane central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTGTGTGGTCCGGGTCCTCCA 0.552000 16 22 0 0 1 0 0 FAM102B 284611 broad.mit.edu 37 1 109170825 109170825 + Missense_Mutation SNP T T G TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr1:109170825T>G ENST00000370035.3 + 7 933 c.593T>G c.(592-594)cTt>cGt p.L198R FAM102B_ENST00000405454.1_Missense_Mutation_p.L198R NM_001010883.2 NP_001010883.2 Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B 198 autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) CCAGACGAACTTGGTGCCTGT 0.378000 30 41 0 0 1 0 0 TPSG1 25823 broad.mit.edu 37 16 1271955 1271955 + Missense_Mutation SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr16:1271955G>A ENST00000234798.4 - 6 803 c.799C>T c.(799-801)Cgc>Tgc p.R267C NM_012467.3 NP_036599.3 Q9NRR2 TRYG1_HUMAN tryptase gamma 1 267 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity liver(1)|lung(2)|skin(1) 4 Hepatocellular(780;0.00369) GTGATGTGGCGGCGGATCCAG 0.662000 11 16 0 0 1 0 0 TFAP2E 339488 broad.mit.edu 37 1 36055549 36055549 + Silent SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr1:36055549G>A ENST00000373235.3 + 5 1012 c.804G>A c.(802-804)ggG>ggA p.G268G NM_178548.3 NP_848643.2 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 268 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1) 2 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CCAAAAATGGGGGCCGGTGTT 0.547000 7 51 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14276232 14276232 + RNA SNP T T C TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr11:14276232T>C ENST00000310358.7 + 0 1584 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GTGCAAGACCTGATTCCCTGG 0.587000 3 39 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63065162 63065162 + Missense_Mutation SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr11:63065162G>A ENST00000544661.1 + 5 756 c.328G>A c.(328-330)Gcg>Acg p.A110T SLC22A10_ENST00000535888.1_Missense_Mutation_p.A55T|SLC22A10_ENST00000332793.6_Missense_Mutation_p.A265T|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 265 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCACGTGGTGGCGTCTGTACC 0.453000 40 75 0 0 1 0 0 COG1 9382 broad.mit.edu 37 17 71193480 71193480 + Silent SNP G G T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr17:71193480G>T ENST00000299886.4 + 4 938 c.858G>T c.(856-858)ctG>ctT p.L286L NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 286 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) ATCCAGCCCTGCCATGTGGCT 0.512000 24 105 1.36565e-18 1.56904e-18 1 1 0 ANKRD52 283373 broad.mit.edu 37 12 56638934 56638934 + Silent SNP C C T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr12:56638934C>T ENST00000267116.7 - 22 2566 c.2445G>A c.(2443-2445)ccG>ccA p.P815P NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 815 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 GGTACGAAAACGGGCTGTGTT 0.522000 6 141 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18250534 18250534 + Missense_Mutation SNP C C A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr10:18250534C>A ENST00000377369.2 + 3 559 c.286C>A c.(286-288)Cta>Ata p.L96I SLC39A12_ENST00000377374.4_Missense_Mutation_p.L96I|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L96I NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 96 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TGCACTATTACTAATAGCTGG 0.373000 36 61 1.04594e-18 1.22784e-18 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139190874 139190874 + Silent SNP C C T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr8:139190874C>T ENST00000395297.1 - 10 1103 c.933G>A c.(931-933)acG>acA p.T311T NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 311 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCATGTGGGACGTGAGCCAGG 0.527000 HNSCC(54;0.14) 13 37 0 0 1 0 0 CNPPD1 27013 broad.mit.edu 37 2 220038176 220038176 + Nonsense_Mutation SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr2:220038176G>A ENST00000409789.1 - 8 1013 c.586C>T c.(586-588)Cag>Tag p.Q196* CNPPD1_ENST00000360507.5_Nonsense_Mutation_p.Q196* Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 196 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 CACCGTCCCTGCTGCTCAGCC 0.627000 14 29 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 113965773 113965773 + Missense_Mutation SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chrX:113965773G>A ENST00000276198.1 + 4 834 c.106G>A c.(106-108)Gac>Aac p.D36N HTR2C_ENST00000371951.1_Missense_Mutation_p.D36N|HTR2C_ENST00000371950.3_Missense_Mutation_p.D36N NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 36 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TATAGTAACTGACATTTTCAA 0.398000 4 81 0 0 1 0 0 CNOT7 29883 broad.mit.edu 37 8 17089971 17089971 + Silent SNP A A G TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr8:17089971A>G ENST00000361272.4 - 6 992 c.694T>C c.(694-696)Ttg>Ctg p.L232L CNOT7_ENST00000523917.1_Silent_p.L232L NM_013354.5 NP_037486.2 Q9UIV1 CNOT7_HUMAN CCR4-NOT transcription complex, subunit 7 232 carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6) 11 Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209) CCTGTGAGCAATGAATCAGAT 0.403000 42 54 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43622119 43622119 + Missense_Mutation SNP G G T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr10:43622119G>T ENST00000355710.3 + 19 3368 c.3136G>T c.(3136-3138)Gcc>Tcc p.A1046S RET_ENST00000340058.5_Missense_Mutation_p.A1046S NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 1046 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) CTGTAATAATGCCCCCCTCCC 0.527000 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 36 55 6.29468e-14 7.08152e-14 1 1 0 BMPR2 659 broad.mit.edu 37 2 203379700 203379700 + Nonsense_Mutation SNP G G T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr2:203379700G>T ENST00000374580.4 + 5 1158 c.619G>T c.(619-621)Gag>Tag p.E207* BMPR2_ENST00000374574.2_Nonsense_Mutation_p.E207* NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 207 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 GAAACTGTTGGAGGTAAGTTT 0.388000 3 39 0.150653 0.150653 1 1 0 ZNF337 26152 broad.mit.edu 37 20 25657357 25657357 + Silent SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr20:25657357G>A ENST00000376436.1 - 4 1106 c.567C>T c.(565-567)ttC>ttT p.F189F ZNF337_ENST00000538750.1_Silent_p.F157F|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F189F 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 TCTTCCGGCTGAAGTCTTGCC 0.433000 5 219 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203379699 203379699 + Missense_Mutation SNP G G T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr2:203379699G>T ENST00000374580.4 + 5 1157 c.618G>T c.(616-618)ttG>ttT p.L206F BMPR2_ENST00000374574.2_Missense_Mutation_p.L206F NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 206 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 TGAAACTGTTGGAGGTAAGTT 0.393000 3 41 0.150653 0.150653 1 1 0 ACSM2B 348158 broad.mit.edu 37 16 20563466 20563466 + Splice_Site SNP C C T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr16:20563466C>T ENST00000329697.6 - 6 1062 c.894_splice c.e6+1 p.K298_splice ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Splice_Site_p.K298_splice|ACSM2B_ENST00000565232.1_Splice_Site_p.K298_splice|ACSM2B_ENST00000565322.1_Splice_Site_p.K219_splice NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 298 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCTCTCTTACCTTTAGAATAA 0.393000 16 151 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 113965814 113965814 + Silent SNP A A C TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chrX:113965814A>C ENST00000276198.1 + 4 875 c.147A>C c.(145-147)ccA>ccC p.P49P HTR2C_ENST00000371951.1_Silent_p.P49P|HTR2C_ENST00000371950.3_Silent_p.P49P NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 49 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TCAAATTCCCAGACGGGGTAC 0.433000 8 73 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39119724 39119724 + Silent SNP A A G TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr5:39119724A>G ENST00000351578.6 - 14 2203 c.2013T>C c.(2011-2013)aaT>aaC p.N671N FYB_ENST00000512982.1_Silent_p.N717N|FYB_ENST00000515010.1_Silent_p.N671N|FYB_ENST00000505428.1_Silent_p.N717N|FYB_ENST00000540520.1_Silent_p.N727N NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 671 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CTTTTCCAACATTAGTTCCTT 0.308000 3 3 0 0 1 0 0 CS 1431 broad.mit.edu 37 12 56667436 56667436 + Missense_Mutation SNP A A C TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr12:56667436A>C ENST00000548567.1 - 11 1437 c.967T>G c.(967-969)Tta>Gta p.L323V CS_ENST00000542324.2_Missense_Mutation_p.L376V|CS_ENST00000351328.3_Missense_Mutation_p.L389V O75390 CISY_HUMAN citrate synthase 389 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 17 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) CCCTGCTCTAAGAGGACATTG 0.488000 4 66 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56436082 56436082 + Missense_Mutation SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr8:56436082G>A ENST00000327381.5 + 3 1349 c.1249G>A c.(1249-1251)Gtc>Atc p.V417I NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 417 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CTTCTGGATCGTCCACTGTGA 0.483000 67 135 0 0 1 0 0 IER5 51278 broad.mit.edu 37 1 181058365 181058365 + Missense_Mutation SNP C C G TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr1:181058365C>G ENST00000367577.4 + 1 728 c.327C>G c.(325-327)gaC>gaG p.D109E NM_016545.4 NP_057629.2 Q5VY09 IER5_HUMAN immediate early response 5 109 lung(1)|ovary(1)|pancreas(1)|urinary_tract(1) 4 CCGTCTCAGACGCGCCGCGGG 0.761000 4 13 0 0 1 0 0 TRIM35 23087 broad.mit.edu 37 8 27151801 27151801 + Silent SNP C C A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr8:27151801C>A ENST00000305364.4 - 3 641 c.558G>T c.(556-558)cgG>cgT p.R186R TRIM35_ENST00000521253.1_Silent_p.R154R NM_171982.3 NP_741983.2 Q9UPQ4 TRI35_HUMAN tripartite motif containing 35 186 apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) CCTGCCGGATCCGGCCTTCCA 0.562000 3 20 0.004672 0.00494682 1 1 0 LRRC8B 23507 broad.mit.edu 37 1 90058579 90058579 + Missense_Mutation SNP C C A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr1:90058579C>A ENST00000330947.2 + 6 2749 c.2389C>A c.(2389-2391)Cag>Aag p.Q797K LRRC8B_ENST00000439853.1_Missense_Mutation_p.Q797K|LRRC8B_ENST00000358200.4_Missense_Mutation_p.Q797K|RP5-1007M22.2_ENST00000443562.1_RNA NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 797 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) AGAACGTTTACAGACGTGCTT 0.433000 36 64 6.04917e-29 7.25901e-29 1 1 0 HIST1H4B 8366 broad.mit.edu 37 6 26027375 26027375 + Missense_Mutation SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr6:26027375G>A ENST00000377364.3 - 1 105 c.106C>T c.(106-108)Cgg>Tgg p.R36W NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 36 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 GCAAGGCGCCGAATGGCCGGT 0.552000 4 56 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14798210 14798210 + Missense_Mutation SNP A A C TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr12:14798210A>C ENST00000261170.3 - 16 1886 c.1750T>G c.(1750-1752)Ttc>Gtc p.F584V NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 584 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CAATCCATGAATGTGCCATCA 0.333000 34 78 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17648120 17648120 + Missense_Mutation SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr6:17648120G>A ENST00000262077.2 - 13 1549 c.1550C>T c.(1549-1551)cCg>cTg p.P517L NUP153_ENST00000537253.1_Missense_Mutation_p.P548L NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 517 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) AGTGCTGCTCGGAGAGGTCAT 0.348000 5 106 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200880923 200880923 + Silent SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr1:200880923G>A ENST00000367342.4 + 9 1757 c.1557G>A c.(1555-1557)gcG>gcA p.A519A C1orf106_ENST00000413687.2_Silent_p.A434A NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 519 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 ATTTCCCGGCGGGGCGGTACG 0.731000 5 15 0 0 1 0 0 C12orf71 728858 broad.mit.edu 37 12 27234319 27234319 + Missense_Mutation SNP C C T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr12:27234319C>T ENST00000429849.2 - 2 628 c.598G>A c.(598-600)Gac>Aac p.D200N NM_001080406.1 NP_001073875.1 A8MTZ7 CL071_HUMAN chromosome 12 open reading frame 71 200 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 GAAGGAGTGTCATCCTTCTCT 0.562000 11 74 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183933081 183933081 + Silent SNP C C T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr1:183933081C>T ENST00000361927.4 - 6 1277 c.906G>A c.(904-906)ctG>ctA p.L302L COLGALT2_ENST00000367520.3_Silent_p.L39L|COLGALT2_ENST00000546159.1_Silent_p.L302L NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 TGTCTTCCTGCAGTGTCTGAT 0.547000 3 46 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173873358 173873358 + Silent SNP C C T rs144094710 TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr4:173873358C>T ENST00000506823.1 + 10 1977 c.1320C>T c.(1318-1320)gaC>gaT p.D440D GALNTL6_ENST00000508122.1_Silent_p.D423D NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 440 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 TGGCCTGGGACGTGCCTAAAT 0.597000 9 8 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12726259 12726259 + Missense_Mutation SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr1:12726259G>A ENST00000376221.1 + 4 737 c.737G>A c.(736-738)cGg>cAg p.R246Q NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 246 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TTACTTTCCCGGAAGTTCATG 0.522000 58 104 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298274 107298274 + Missense_Mutation SNP T T A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr9:107298274T>A ENST00000374781.2 - 1 863 c.821A>T c.(820-822)cAc>cTc p.H274L NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 CACAGTCAGGTGAGCTGAGCA 0.423000 54 108 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228459795 228459795 + Silent SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr1:228459795G>A ENST00000570156.2 + 20 5933 c.5859G>A c.(5857-5859)tcG>tcA p.S1953S OBSCN_ENST00000284548.11_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Silent_p.S425S|OBSCN_ENST00000366707.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 934 Ig-like 19. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTCCAGCTCGAAAATGCGTG 0.667000 11 37 0 0 1 0 0 AC105402.4 0 broad.mit.edu 37 2 149629672 149629673 + RNA INS - - C TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr2:149629672_149629673insC ENST00000601658.1 - 0 676 CTCTGGCCCTGCCCCCCCCCAA 0.441 4 9 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97788717 97788720 + Frame_Shift_Del DEL GTGT GTGT - TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr7:97788717_97788720delGTGT ENST00000297293.5 + 6 930_933 c.637_640delGTGT c.(637-642)ttfs p.VF213fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 213 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CTACCTCCTGGTGTTTGAGTTCTG 0.412 31 121 --- --- --- --- C11orf94 143678 broad.mit.edu 37 11 45928741 45928741 + Frame_Shift_Del DEL A A - TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr11:45928741delA ENST00000449465.1 - 1 92 c.56delT c.(55-57)ccfs p.L19fs NM_001080446.2 NP_001073915.2 C9JXX5 CK094_HUMAN chromosome 11 open reading frame 94 19 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1) 7 GATGAGGTGGAGGAAGAGGCT 0.667 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579315 7579316 + Frame_Shift_Ins INS - - C TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr17:7579315_7579316insC ENST00000420246.2 - 4 503_504 c.371_372insG c.(370-372)tacfs p.Y124fs TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Y124fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 124 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; 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.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(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) AACTGACCGTGCAAGTCACAGA 0.545 111 """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) 26 28 --- --- --- ---