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 IGHD 0 broad.mit.edu 37 14 106306900 106306900 + RNA SNP T T C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr14:106306900T>C ENST00000390556.2 - 0 927 ACGCTGGTCCTCCAGCCACAT 0.667000 3 5 0 0 0.150653 0 0 SLC39A6 25800 broad.mit.edu 37 18 33706819 33706819 + Missense_Mutation SNP G G C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr18:33706819G>C ENST00000269187.5 - 2 365 c.152C>G c.(151-153)tCc>tGc p.S51C SLC39A6_ENST00000590986.1_Missense_Mutation_p.S51C|SLC39A6_ENST00000440549.2_Intron NM_012319.3 NP_036451.3 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 51 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 TTGCCGTGTGGAAATTGCCAA 0.388000 6 175 0 0 0.248553 0 0 VPS13C 54832 broad.mit.edu 37 15 62302717 62302717 + Missense_Mutation SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr15:62302717C>A ENST00000261517.5 - 13 1038 c.965G>T c.(964-966)tGc>tTc p.C322F VPS13C_ENST00000395896.4_Missense_Mutation_p.C322F|VPS13C_ENST00000395898.3_Missense_Mutation_p.C279F|VPS13C_ENST00000249837.3_Missense_Mutation_p.C279F NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 322 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TTCTATGTTGCAATCCAGTTT 0.393000 55 120 3.19069e-20 4.33022e-20 0.870114 1 0 DNAJB11 51726 broad.mit.edu 37 3 186302222 186302222 + Missense_Mutation SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr3:186302222C>A ENST00000439351.1 + 10 1785 c.856C>A c.(856-858)Cat>Aat p.H286N DNAJB11_ENST00000265028.3_Missense_Mutation_p.H286N Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 286 protein folding endoplasmic reticulum lumen heat shock protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TTTCTAGGTACATATTTCCCG 0.468000 3 67 6.4e-05 7.84516e-05 0.115264 1 0 MTHFR 4524 broad.mit.edu 37 1 11854817 11854817 + Missense_Mutation SNP G G T TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr1:11854817G>T ENST00000376592.1 - 6 1263 c.1135C>A c.(1135-1137)Cag>Aag p.Q379K MTHFR_ENST00000376583.3_Missense_Mutation_p.Q420K|MTHFR_ENST00000376585.1_Missense_Mutation_p.Q420K|MTHFR_ENST00000376590.3_Missense_Mutation_p.Q379K P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 379 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) TCCCACTCCTGGGTACGGTAG 0.582000 11 174 1.58986e-06 2.01383e-06 0.361761 1 0 MUC16 94025 broad.mit.edu 37 19 9069716 9069716 + Silent SNP A A C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr19:9069716A>C ENST00000397910.4 - 3 17933 c.17730T>G c.(17728-17730)acT>acG p.T5910T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5912 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACACGCCCTTAGTACTTCTGC 0.498000 68 125 0 0 0.870114 0 0 RBM39 9584 broad.mit.edu 37 20 34320047 34320047 + Missense_Mutation SNP T T C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr20:34320047T>C ENST00000361162.6 - 4 496 c.112A>G c.(112-114)Agc>Ggc p.S38G RBM39_ENST00000253363.6_Missense_Mutation_p.S38G|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Missense_Mutation_p.S38G NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 38 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) CTGCTCTTGCTTTTTTTCCTC 0.398000 3 172 0 0 0.115264 0 0 C12orf63 0 broad.mit.edu 37 12 97137849 97137849 + Missense_Mutation SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr12:97137849G>A ENST00000524981.3 + 22 2962 c.2962G>A c.(2962-2964)Gca>Aca p.A988T Q6ZTY8 CL063_HUMAN 962 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CACTAAATATGCAAATCCATT 0.299000 10 82 0 0 0.335167 0 0 DNAH8 1769 broad.mit.edu 37 6 38830127 38830127 + Missense_Mutation SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr6:38830127G>A ENST00000359357.3 + 42 5806 c.5552G>A c.(5551-5553)gGc>gAc p.G1851D DNAH8_ENST00000449981.2_Missense_Mutation_p.G2068D|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1851D dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GCTGGCACTGGCAAAACAGAA 0.463000 4 209 0 0 0.150653 0 0 BBS12 166379 broad.mit.edu 37 4 123664857 123664857 + Missense_Mutation SNP T T C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr4:123664857T>C ENST00000542236.1 + 3 2191 c.1810T>C c.(1810-1812)Tat>Cat p.Y604H BBS12_ENST00000314218.3_Missense_Mutation_p.Y604H NM_001178007.1 NP_001171478.1 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 604 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 AACTCTCCTATATAACACTGC 0.408000 Bardet-Biedl syndrome 6 85 0 0 0.217242 0 0 NUP37 79023 broad.mit.edu 37 12 102471196 102471196 + Missense_Mutation SNP A A C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr12:102471196A>C ENST00000552283.1 - 7 765 c.626T>G c.(625-627)gTg>gGg p.V209G NUP37_ENST00000251074.1_Missense_Mutation_p.V209G Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 209 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 CATTAATGGCACTTGTTCTGA 0.403000 6 191 0 0 0.248553 0 0 STAT6 6778 broad.mit.edu 37 12 57493169 57493169 + Missense_Mutation SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr12:57493169C>A ENST00000300134.3 - 16 2124 c.1799G>T c.(1798-1800)cGc>cTc p.R600L STAT6_ENST00000537215.2_Missense_Mutation_p.R490L|STAT6_ENST00000538913.2_Missense_Mutation_p.R490L|STAT6_ENST00000454075.3_Missense_Mutation_p.R600L|STAT6_ENST00000543873.2_Missense_Mutation_p.R600L|STAT6_ENST00000556155.1_Missense_Mutation_p.R600L NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 600 SH2. regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 CCCCAGTGAGCGAATGGACAG 0.532000 3 95 0.150653 0.17089 0.150653 1 0 SPOP 8405 broad.mit.edu 37 17 47688719 47688719 + Missense_Mutation SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr17:47688719C>A ENST00000393331.3 - 8 1051 c.581G>T c.(580-582)tGg>tTg p.W194L SPOP_ENST00000393328.2_Missense_Mutation_p.W194L|SPOP_ENST00000503676.1_Missense_Mutation_p.W194L|SPOP_ENST00000347630.2_Missense_Mutation_p.W194L|SPOP_ENST00000504102.1_Missense_Mutation_p.W194L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 194 BTB. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GGAATTCTCCCACAGTCCTCC 0.488000 Prostate(2;0.17) 5 320 0.184627 0.206348 0.184627 1 0 ABCA1 19 broad.mit.edu 37 9 107593303 107593303 + Missense_Mutation SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr9:107593303C>A ENST00000374736.3 - 14 2189 c.1795G>T c.(1795-1797)Gtg>Ttg p.V599L NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 599 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGCTCCACCACATCCTGCAAG 0.537000 4 154 0.150653 0.17089 0.150653 1 0 KIFAP3 22920 broad.mit.edu 37 1 170003639 170003639 + Splice_Site SNP T T A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr1:170003639T>A ENST00000367765.1 - 7 1999 c.e7-2 KIFAP3_ENST00000367767.1_Splice_Site|KIFAP3_ENST00000361580.2_Splice_Site|KIFAP3_ENST00000538366.1_Splice_Site NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGAGAAAAGCTTTAAAGAAGA 0.284000 29 38 0 0 0.760397 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 6 140 0 0 0.307466 0 0 ANO2 57101 broad.mit.edu 37 12 5860068 5860068 + Missense_Mutation SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr12:5860068G>A ENST00000546188.1 - 11 1186 c.1115C>T c.(1114-1116)cCa>cTa p.P372L ANO2_ENST00000356134.5_Missense_Mutation_p.P372L|ANO2_ENST00000327087.8_Missense_Mutation_p.P371L Q9NQ90 ANO2_HUMAN anoctamin 2 376 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TACAGAAGATGGGATGAGGAA 0.348000 4 68 0 0 0.184627 0 0 RDH8 50700 broad.mit.edu 37 19 10127828 10127828 + Missense_Mutation SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr19:10127828G>A ENST00000591589.1 + 2 448 c.259G>A c.(259-261)Gtg>Atg p.V87M RDH8_ENST00000171214.1_Missense_Mutation_p.V67M Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 67 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) CCAGCTGGACGTGTGCAGTGA 0.627000 25 24 0 0 0.693898 0 0 TPBG 7162 broad.mit.edu 37 6 83075717 83075717 + Missense_Mutation SNP A A G TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr6:83075717A>G ENST00000369750.3 + 2 1656 c.1039A>G c.(1039-1041)Att>Gtt p.I347V TPBG_ENST00000543496.1_Missense_Mutation_p.I347V|TPBG_ENST00000535040.1_Missense_Mutation_p.I347V Q13641 TPBG_HUMAN trophoblast glycoprotein 347 cell adhesion integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) CTGTGACCCGATTCTTCCCCC 0.507000 6 135 0 0 0.217242 0 0 TP53 7157 broad.mit.edu 37 17 7577532 7577532 + Missense_Mutation SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr17:7577532G>A ENST00000420246.2 - 7 881 c.749C>T c.(748-750)cCc>cTc p.P250L TP53_ENST00000269305.4_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 250 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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) GGTGAGGATGGGCCTCCGGTT 0.577000 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) 76 17 0 0 0.870114 0 0 CD163L1 283316 broad.mit.edu 37 12 7586027 7586027 + Missense_Mutation SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr12:7586027G>A ENST00000313599.3 - 3 445 c.388C>T c.(388-390)Cgg>Tgg p.R130W CD163L1_ENST00000396630.1_Missense_Mutation_p.R130W|CD163L1_ENST00000416109.2_Missense_Mutation_p.R130W Q9NR16 C163B_HUMAN CD163 molecule-like 1 130 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CCCCATTCCCGGTGTTGACAT 0.438000 6 212 0 0 0.217242 0 0 DUSP27 92235 broad.mit.edu 37 1 167097454 167097454 + Missense_Mutation SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr1:167097454C>A ENST00000361200.2 + 6 3252 c.3086C>A c.(3085-3087)aCc>aAc p.T1029N DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.T1029N|DUSP27_ENST00000443333.1_Missense_Mutation_p.T1029N Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1029 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TACAACGAGACCTCAAGTTCC 0.562000 32 66 1.62565e-12 2.13016e-12 0.760397 1 0 UBN2 254048 broad.mit.edu 37 7 138982568 138982568 + Missense_Mutation SNP C C T TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr7:138982568C>T ENST00000288561.8 + 18 4030 c.3781C>T c.(3781-3783)Cgg>Tgg p.R1261W UBN2_ENST00000473989.2_Missense_Mutation_p.R1344W NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 1344 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TAAATTACCACGGAAATCTCA 0.418000 23 41 0 0 0.717897 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 49 81 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179422826 179422826 + Silent SNP A A G TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr2:179422826A>G ENST00000589042.1 - 328 87479 c.87255T>C c.(87253-87255)ctT>ctC p.L29085L TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.L27444L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.L20212L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.L20145L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.L20020L|TTN_ENST00000342992.6_Silent_p.L26517L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27444 Fibronectin type-III 112. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGTTGCCTTAAGGGGGACAC 0.413000 7 175 0 0 0.248553 0 0 GLDC 2731 broad.mit.edu 37 9 6644691 6644691 + Splice_Site SNP C C T TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr9:6644691C>T ENST00000321612.6 - 2 407 c.255_splice c.e2-1 p.S86_splice NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 86 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TTCATCAATGCTCTAAAATTA 0.463000 36 54 0 0 0.804634 0 0 PRB1 5542 broad.mit.edu 37 12 11506852 11506852 + Missense_Mutation SNP G G T rs151023240 TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr12:11506852G>T ENST00000500254.2 - 3 222 c.185C>A c.(184-186)cCa>cAa p.P62Q PRB1_ENST00000545626.1_Missense_Mutation_p.P62Q|PRB1_ENST00000546254.1_Missense_Mutation_p.P62Q NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 245 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) GCCTCCTTGTGGGGGTGGTCC 0.607000 40 624 4.32679e-17 5.76906e-17 0.827153 1 0 ZCCHC8 55596 broad.mit.edu 37 12 122958070 122958070 + Missense_Mutation SNP G G C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr12:122958070G>C ENST00000543897.1 - 12 3739 c.1384C>G c.(1384-1386)Cag>Gag p.Q462E ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q462E|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.Q311E|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.Q700E Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 700 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TTGTTTTTCTGCTGGTTTCGG 0.373000 33 54 0 0 0.740014 0 0 ADPRM 56985 broad.mit.edu 37 17 10614361 10614361 + Missense_Mutation SNP G G C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr17:10614361G>C ENST00000379774.4 + 4 1020 c.929G>C c.(928-930)gGc>gCc p.G310A NM_020233.4 NP_064618.3 ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent CAAGCCTTTGGCACAGTTCAT 0.438000 45 77 0 0 0.870114 0 0 PTPRC 5788 broad.mit.edu 37 1 198677313 198677313 + Missense_Mutation SNP C C T TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr1:198677313C>T ENST00000367376.2 + 10 1121 c.950C>T c.(949-951)aCt>aTt p.T317I PTPRC_ENST00000348564.6_Missense_Mutation_p.T158I|PTPRC_ENST00000442510.2_Missense_Mutation_p.T319I|PTPRC_ENST00000352140.3_Missense_Mutation_p.T269I|PTPRC_ENST00000594404.1_Missense_Mutation_p.T156I NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 317 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AAAGCAGATACTACTATTTGT 0.294000 51 72 0 0 0.870114 0 0 DNAH10 196385 broad.mit.edu 37 12 124401043 124401043 + Missense_Mutation SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr12:124401043G>A ENST00000409039.3 + 62 10433 c.10408G>A c.(10408-10410)Gag>Aag p.E3470K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3470 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAAGCAGCTAGAGATGTCCAT 0.453000 13 169 0 0 0.479597 0 0 ARID1A 8289 broad.mit.edu 37 1 27100207 27100207 + Splice_Site SNP C C T TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr1:27100207C>T ENST00000324856.7 + 16 4374 c.4004_splice c.e16+1 p.R1335_splice ARID1A_ENST00000457599.2_Splice_Site_p.R1335_splice|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Splice_Site_p.R952_splice NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1335 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.R1335*(2) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) gcagcagcaACGGTGAGTAAA 0.577000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 10 52 0 0 0.361761 0 0 SETD5 55209 broad.mit.edu 37 3 9476091 9476091 + Missense_Mutation SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr3:9476091C>A ENST00000402198.1 + 5 686 c.251C>A c.(250-252)tCt>tAt p.S84Y SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.S103Y|SETD5_ENST00000406341.1_Missense_Mutation_p.S84Y|SETD5_ENST00000402466.1_5'UTR NM_001080517.1 NP_001073986.1 Q9C0A6 SETD5_HUMAN SET domain containing 5 84 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AGCCCGAACTCTGAAGGAGAA 0.532000 28 56 7.07758e-08 9.11688e-08 0.681144 1 0 SLC30A4 7782 broad.mit.edu 37 15 45777517 45777517 + Splice_Site SNP T T A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr15:45777517T>A ENST00000261867.4 - 8 1450 c.e8-2 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) TTCCAGGAACTGCAATGTCAA 0.318000 6 59 0 0 0.248553 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803528 142803528 + RNA SNP A A C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr1:142803528A>C ENST00000423385.1 - 0 1437 TTTTTCTTTAATAGATGTTGG 0.264000 27 267 0 0 0.740014 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881449 108881449 + Missense_Mutation SNP T T C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr2:108881449T>C ENST00000329106.2 + 6 790 c.790T>C c.(790-792)Ttt>Ctt p.F264L NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 264 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 CATCTCCCCTTTTATGAGGAA 0.408000 6 153 0 0 0.278610 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890478 23890478 + Silent SNP A A G TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr15:23890478A>G ENST00000532292.1 - 1 697 c.603T>C c.(601-603)ttT>ttC p.F201F NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) AGGGGCCTTTAAAGGCATTCA 0.577000 7 130 0 0 0.278610 0 0 APBA2 321 broad.mit.edu 37 15 29390775 29390775 + Missense_Mutation SNP C C T TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr15:29390775C>T ENST00000558402.1 + 10 1933 c.1334C>T c.(1333-1335)aCg>aTg p.T445M APBA2_ENST00000558259.1_Missense_Mutation_p.T445M|APBA2_ENST00000411764.1_Missense_Mutation_p.T433M|APBA2_ENST00000561069.1_Missense_Mutation_p.T445M|APBA2_ENST00000558330.1_Missense_Mutation_p.T433M Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 445 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) AATGCAGACACGCAGGTAAGC 0.478000 29 42 0 0 0.706142 0 0 SCN2A 6326 broad.mit.edu 37 2 166223805 166223805 + Missense_Mutation SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr2:166223805C>A ENST00000357398.3 + 19 3889 c.3599C>A c.(3598-3600)aCa>aAa p.T1200K SCN2A_ENST00000375427.2_Missense_Mutation_p.T1200K|SCN2A_ENST00000283256.6_Missense_Mutation_p.T1200K|SCN2A_ENST00000375437.2_Missense_Mutation_p.T1200K Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1200 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTGAGGAAAACATGCTATAAG 0.418000 3 104 6.4e-05 7.84516e-05 0.115264 1 0 SRP72 6731 broad.mit.edu 37 4 57340227 57340227 + Missense_Mutation SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr4:57340227G>A ENST00000342756.5 + 4 1083 c.362G>A c.(361-363)cGt>cAt p.R121H SRP72_ENST00000504757.1_Missense_Mutation_p.R121H|SRP72_ENST00000510663.1_Missense_Mutation_p.R121H NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 121 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) CAGTTATACCGTTTGGAACGC 0.353000 23 27 0 0 0.717897 0 0 CTSV 1515 broad.mit.edu 37 9 99795313 99795313 + Missense_Mutation SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr9:99795313C>A ENST00000259470.5 - 8 1172 c.923G>T c.(922-924)gGc>gTc p.G308V CTSV_ENST00000538255.1_Missense_Mutation_p.G308V NM_001333.3 NP_001324.2 cathepsin V GCCATTCGAGCCCCATTCTGG 0.438000 42 60 1.8453e-21 2.54986e-21 0.853193 1 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 87 0 0 0.115264 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702143 187702143 + Silent SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr2:187702143G>A ENST00000295131.2 - 5 672 c.633C>T c.(631-633)ttC>ttT p.F211F NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 211 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TAGAGTTTTTGAATTCCTCCA 0.393000 6 147 0 0 0.248553 0 0 MCHR2 84539 broad.mit.edu 37 6 100382335 100382335 + Missense_Mutation SNP A A G TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr6:100382335A>G ENST00000281806.2 - 5 960 c.646T>C c.(646-648)Tgc>Cgc p.C216R MCHR2_ENST00000445970.1_Missense_Mutation_p.C216R|MCHR2_ENST00000369212.1_Missense_Mutation_p.C216R NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 216 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) AAAATATAGCACACCAAAATC 0.323000 90 132 0 0 0.870114 0 0 RGS13 6003 broad.mit.edu 37 1 192627429 192627429 + Missense_Mutation SNP C C T TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr1:192627429C>T ENST00000391995.2 + 6 514 c.226C>T c.(226-228)Cgg>Tgg p.R76W RGS13_ENST00000543215.1_Missense_Mutation_p.R76W|RGS13_ENST00000482095.1_3'UTR NM_002927.4 NP_002918.1 O14921 RGS13_HUMAN regulator of G-protein signaling 13 76 RGS. plasma membrane GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1) 19 AATTGCCTCACGGTGGAGCAG 0.413000 11 91 0 0 0.411799 0 0 PER2 8864 broad.mit.edu 37 2 239185809 239185809 + Missense_Mutation SNP C C T TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr2:239185809C>T ENST00000254657.3 - 3 535 c.256G>A c.(256-258)Gca>Aca p.A86T PER2_ENST00000254658.3_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000440245.1_Missense_Mutation_p.A86T NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 86 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity p.A86T(1) NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TCAGATTTTGCCATCATCAGG 0.383000 5 477 0 0 0.184627 0 0 CPED1 79974 broad.mit.edu 37 7 120629721 120629721 + Nonsense_Mutation SNP C C T TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr7:120629721C>T ENST00000310396.5 + 2 513 c.46C>T c.(46-48)Cga>Tga p.R16* CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Nonsense_Mutation_p.R16*|CPED1_ENST00000340646.5_Nonsense_Mutation_p.R16* NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 ATTTTGCCCCCGACCCTTCTT 0.597000 71 94 0 0 0.870114 0 0 NOS1 4842 broad.mit.edu 37 12 117768410 117768410 + Silent SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr12:117768410G>A ENST00000317775.6 - 2 1150 c.465C>T c.(463-465)ccC>ccT p.P155P NOS1_ENST00000338101.4_Silent_p.P155P|NOS1_ENST00000344089.3_Silent_p.P155P NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 155 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GCCCATTCCCGGGACCCGAGG 0.701000 43 64 0 0 0.870114 0 0 ARPP21 10777 broad.mit.edu 37 3 35758847 35758847 + Silent SNP T T C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr3:35758847T>C ENST00000187397.4 + 13 1449 c.993T>C c.(991-993)ttT>ttC p.F331F ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000417925.1_Silent_p.F297F|ARPP21_ENST00000458225.1_Silent_p.F297F NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 331 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GACAGCTCTTTCGGTTGGTAT 0.308000 3 162 0 0 0.184627 0 0 ANLN 54443 broad.mit.edu 37 7 36445820 36445820 + Missense_Mutation SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr7:36445820C>A ENST00000265748.2 + 4 739 c.518C>A c.(517-519)cCa>cAa p.P173Q ANLN_ENST00000396068.2_Missense_Mutation_p.P173Q NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 173 Nuclear localization. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CTCTTCTCACCAATGCCATCA 0.453000 4 162 0.150653 0.17089 0.150653 1 0 TBK1 29110 broad.mit.edu 37 12 64891776 64891776 + Missense_Mutation SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr12:64891776G>A ENST00000331710.5 + 20 2434 c.2095G>A c.(2095-2097)Ggg>Agg p.G699R NM_013254.3 NP_037386.1 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 699 I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1) 20 GBM - Glioblastoma multiforme(28;0.0386) AGAGATGGAAGGGGTGGTTAA 0.299000 59 51 0 0 0.870114 0 0 PRSS54 221191 broad.mit.edu 37 16 58324919 58324919 + Silent SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr16:58324919G>A ENST00000219301.4 - 4 601 c.207C>T c.(205-207)ttC>ttT p.F69F PRSS54_ENST00000567164.1_Silent_p.F69F|PRSS54_ENST00000543437.1_Intron NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 69 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GGATGCAGCCGAAAGCCAGGT 0.627000 5 133 0 0 0.184627 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 3 52 0 0 0.115264 0 0 RAD50 10111 broad.mit.edu 37 5 131940537 131940537 + Missense_Mutation SNP A A G TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr5:131940537A>G ENST00000378823.3 + 16 2965 c.2147A>G c.(2146-2148)gAc>gGc p.D716G RAD50_ENST00000265335.6_Missense_Mutation_p.D855G NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 855 Zinc-hook. DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTTATACAGGACCAGCAGGAA 0.333000 Homologous recombination 18 45 0 0 0.557998 0 0 FBN1 2200 broad.mit.edu 37 15 48795985 48795985 + Splice_Site SNP T T C TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr15:48795985T>C ENST00000316623.5 - 17 2567 c.2113_splice c.e17+1 p.S704_splice NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 704 TB 3. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACCACATACCTGAATTCTGTG 0.483000 40 71 0 0 0.853193 0 0 ZFHX3 463 broad.mit.edu 37 16 72821213 72821213 + Silent SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr16:72821213C>A ENST00000268489.5 - 10 11634 c.10962G>T c.(10960-10962)tcG>tcT p.S3654S ZFHX3_ENST00000397992.5_Silent_p.S2740S NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3654 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CTGTTGGCATCGAGGGCTGAA 0.602000 5 234 0.014758 0.0175251 0.184627 1 0 PARP2 10038 broad.mit.edu 37 14 20818733 20818733 + Nonsense_Mutation SNP G G T TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr14:20818733G>T ENST00000527915.1 + 5 417 c.412G>T c.(412-414)Gaa>Taa p.E138* PARP2_ENST00000250416.5_Nonsense_Mutation_p.E138*|PARP2_ENST00000429687.3_Nonsense_Mutation_p.E125* Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 138 protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) TCAGCTATTAGAAGATGATGC 0.368000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 4 154 0.00909568 0.0109726 0.150653 1 0 ILVBL 10994 broad.mit.edu 37 19 15228815 15228815 + Missense_Mutation SNP C C G TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr19:15228815C>G ENST00000263383.3 - 10 1202 c.1063G>C c.(1063-1065)Gac>Cac p.D355H ILVBL_ENST00000534378.1_Missense_Mutation_p.D248H NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 355 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 AGGCGGAAGTCACACACAGTT 0.522000 6 115 0 0 0.217242 0 0 PHC2 1912 broad.mit.edu 37 1 33797964 33797966 + In_Frame_Del DEL CTT CTT - TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr1:33797964_33797966delCTT ENST00000257118.5 - 10 1851_1853 c.1798_1800delAAG c.(1798-1800)del p.K600del PHC2_ENST00000419414.2_In_Frame_Del_p.K601del|PHC2_ENST00000373416.1_In_Frame_Del_p.K65del|PHC2_ENST00000373422.3_In_Frame_Del_p.K206del|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_In_Frame_Del_p.K65del|PHC2_ENST00000431992.1_In_Frame_Del_p.K571del NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 600 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCTGTGCATACTTCTTCTTGAGA 0.581 129 259 --- --- --- --- USP21 27005 broad.mit.edu 37 1 161132502 161132504 + In_Frame_Del DEL CTT CTT - TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr1:161132502_161132504delCTT ENST00000368002.3 + 6 1256_1258 c.879_881delCTT c.(877-882)tcc>tc p.SF293del USP21_ENST00000289865.8_In_Frame_Del_p.SF293del|USP21_ENST00000368001.1_In_Frame_Del_p.SF293del|USP21_ENST00000487163.1_3'UTR NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 293 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ATGTTCCCTCCTTCTCTGGATAC 0.557 10 84 --- --- --- --- STK31 56164 broad.mit.edu 37 7 23768774 23768792 + Frame_Shift_Del DEL TTCCTTTGGAGCTGCAGTT TTCCTTTGGAGCTGCAGTT - TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr7:23768774_23768792delTTCCTTTGGAGCTGCAGTT ENST00000354639.3 + 6 784_802 c.320_338delTTCCTTTGGAGCTGCAGTT c.(319-339)atfs p.IPLELQF107fs STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Frame_Shift_Del_p.IPLELQF130fs|STK31_ENST00000428484.1_Frame_Shift_Del_p.IPLELQF107fs|STK31_ENST00000433467.2_Frame_Shift_Del_p.IPLELQF130fs NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 130 Tudor. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ATAGTTGAAATTCCTTTGGAGCTGCAGTTTTCTAGTGTT 0.356 19 125 --- --- --- --- ZNF277 11179 broad.mit.edu 37 7 111936282 111936284 + Splice_Site DEL AGA AGA - TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr7:111936282_111936284delAGA ENST00000361822.3 + 4 511_512 c.382_splice c.e4-1 p.128_splice ZNF277_ENST00000450657.1_Splice_Site_p.128_splice NM_021994.2 NP_068834.2 Q9NRM2 ZN277_HUMAN zinc finger protein 277 128 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 ATCTCTCAACAGAAGAACAAGAG 0.300 13 241 --- --- --- --- RP11-149P24.1 0 broad.mit.edu 37 8 137130780 137130781 + RNA INS - - TTCC rs140949451 by1000genomes TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr8:137130780_137130781insTTCC ENST00000523150.1 + 0 330 ccctcccttctttccttccttc 0.495 4 2 --- --- --- --- RECQL4 9401 broad.mit.edu 37 8 145740580 145740580 + Frame_Shift_Del DEL T T - TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr8:145740580delT ENST00000428558.2 - 8 1478 c.1437delA c.(1435-1437)cafs p.Q479fs RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 479 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GGCGAAAGGCTTGGTGCCCCA 0.637 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 5 2 --- --- --- --- API5 8539 broad.mit.edu 37 11 43348086 43348087 + Frame_Shift_Del DEL AT AT - TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr11:43348086_43348087delAT ENST00000378852.3 + 7 905_906 c.780_781delAT c.(778-783)acatfs p.TY260fs API5_ENST00000534600.1_Frame_Shift_Del_p.TY260fs|API5_ENST00000455725.2_Frame_Shift_Del_p.TY249fs|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Frame_Shift_Del_p.TY260fs|API5_ENST00000420461.2_Frame_Shift_Del_p.TY206fs NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 260 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 GGTTTGTGACATATTTCTGTGA 0.376 70 166 --- --- --- --- TCIRG1 10312 broad.mit.edu 37 11 67815190 67815192 + In_Frame_Del DEL ACA ACA - TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr11:67815190_67815192delACA ENST00000265686.3 + 12 1490_1492 c.1382_1384delACA c.(1381-1386)tac>t p.YN461del TCIRG1_ENST00000532635.1_In_Frame_Del_p.YN245del NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 461 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 GGCTTCATCTACAACGAGTGCTT 0.640 26 285 --- --- --- --- GRAMD1B 57476 broad.mit.edu 37 11 123476150 123476153 + Frame_Shift_Del DEL ACTA ACTA - TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chr11:123476150_123476153delACTA ENST00000529750.1 + 9 1185_1188 c.858_861delACTA c.(856-861)acfs p.TL286fs GRAMD1B_ENST00000322282.7_Frame_Shift_Del_p.TL286fs|GRAMD1B_ENST00000456860.2_Frame_Shift_Del_p.TL293fs NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 286 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CCAACAGCACACTAACATCCACAG 0.534 67 138 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76814305 76814305 + Frame_Shift_Del DEL A A - TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc50e0af-23d9-4528-b5ac-3974449bc1aa 12ee7643-7bc5-4051-baa7-d1f9a6245fa1 g.chrX:76814305delA ENST00000373344.5 - 29 6553 c.6339delT c.(6337-6339)ttfs p.F2113fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.F2075fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2113 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.F2113fs*9(1)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TAGAAATGATAAATAATCGTC 0.289 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 54 12 --- --- --- ---