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 ZNF536 9745 broad.mit.edu 37 19 30935717 30935717 + Silent SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr19:30935717C>T ENST00000355537.3 + 2 1395 c.1248C>T c.(1246-1248)ggC>ggT p.G416G NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGCCCATGGGCGGCATGTCCC 0.627000 14 65 0 0 1 0 0 CEACAM18 729767 broad.mit.edu 37 19 51984784 51984784 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr19:51984784C>T ENST00000396477.4 + 3 559 c.538C>T c.(538-540)Cgg>Tgg p.R180W CEACAM18_ENST00000451626.1_Missense_Mutation_p.R241W NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 241 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TAGTAGTGACCGGATGACAAT 0.502000 13 48 0 0 1 0 0 CCDC82 79780 broad.mit.edu 37 11 96117437 96117437 + Missense_Mutation SNP C C A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr11:96117437C>A ENST00000278520.5 - 3 903 c.475G>T c.(475-477)Gat>Tat p.D159Y CCDC82_ENST00000542662.1_Missense_Mutation_p.D159Y|CCDC82_ENST00000423339.2_Missense_Mutation_p.D159Y Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 159 protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) TTGTTGAGATCATTATCCTCT 0.343000 27 107 6.36457e-07 6.53659e-07 1 1 0 TBC1D3P5 440419 broad.mit.edu 37 17 25753502 25753502 + RNA SNP C C T rs35094692 by1000genomes TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr17:25753502C>T ENST00000586223.1 + 0 1512 NR_033892.1 CTCGGGCTCACCCCGTGCCTG 0.567000 7 83 0 0 1 0 0 EHD4 30844 broad.mit.edu 37 15 42193059 42193059 + Silent SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr15:42193059G>A ENST00000220325.4 - 6 1493 c.1410C>T c.(1408-1410)gcC>gcT p.A470A NM_139265.3 NP_644670.1 Q9H223 EHD4_HUMAN EH-domain containing 4 470 EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1) 20 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) TCTCCTTCTTGGCGTTGACAC 0.582000 14 59 0 0 1 0 0 TP53INP1 94241 broad.mit.edu 37 8 95952380 95952380 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr8:95952380C>T ENST00000342697.4 - 3 588 c.181G>A c.(181-183)Gag>Aag p.E61K TP53INP1_ENST00000378776.4_Missense_Mutation_p.E61K|TP53INP1_ENST00000448464.2_Missense_Mutation_p.E61K|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 61 Glu-rich. apoptosis PML body kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GAAGGGTGCTCAGTAGGTGAC 0.463000 17 43 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15542413 15542413 + Missense_Mutation SNP T T C TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr2:15542413T>C ENST00000281513.5 - 26 2975 c.2950A>G c.(2950-2952)Att>Gtt p.I984V NBAS_ENST00000441750.1_Missense_Mutation_p.I864V NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 984 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TCAGGAATAATTTTTTGCTGC 0.348000 6 66 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr4:153247289G>C ENST00000281708.4 - 10 2742 c.1513C>G c.(1513-1515)Cgc>Ggc p.R505G FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 24 102 0 0 1 0 0 UTS2 10911 broad.mit.edu 37 1 7913462 7913462 + Silent SNP G G A rs138271613 TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr1:7913462G>A ENST00000054668.5 - 1 29 c.30C>T c.(28-30)ctC>ctT p.L10L UTS2_ENST00000377516.2_5'UTR NM_021995.2 NP_068835.1 O95399 UTS2_HUMAN urotensin 2 104 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity kidney(1)|lung(4)|urinary_tract(1) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) AAGTGACGCAGAGCATAAGAT 0.413000 21 91 0 0 1 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143501 61143501 + RNA SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr20:61143501G>A ENST00000475015.1 - 0 837 C20orf166-AS1_ENST00000412495.1_RNA CGGCTGTGGCGGGTGCAGGAG 0.647000 12 53 0 0 1 0 0 TOP2B 7155 broad.mit.edu 37 3 25686873 25686873 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr3:25686873C>T ENST00000435706.2 - 2 344 c.143G>A c.(142-144)aGa>aAa p.R48K TOP2B_ENST00000264331.4_Missense_Mutation_p.R53K Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 53 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 CTGATACACTCTCTCAACAGA 0.358000 18 46 0 0 1 0 0 RRP9 9136 broad.mit.edu 37 3 51967533 51967533 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr3:51967533C>T ENST00000232888.6 - 15 1490 c.1417G>A c.(1417-1419)Gct>Act p.A473T NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 473 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) CAGGAACCAGCAGCTGGGGGT 0.527000 8 27 0 0 1 0 0 SMEK2 57223 broad.mit.edu 37 2 55792049 55792049 + Missense_Mutation SNP C C G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr2:55792049C>G ENST00000272313.5 - 12 2136 c.1809G>C c.(1807-1809)caG>caC p.Q603H SMEK2_ENST00000345102.5_Missense_Mutation_p.Q688H|SMEK2_ENST00000407823.3_Missense_Mutation_p.Q656H NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 688 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGTTCAGTTTCTGATTTTGTC 0.308000 8 37 0 0 1 0 0 ADAT2 134637 broad.mit.edu 37 6 143755111 143755111 + Missense_Mutation SNP C C A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr6:143755111C>A ENST00000606514.1 - 3 652 c.68G>T c.(67-69)cGa>cTa p.R23L ADAT2_ENST00000237283.8_Missense_Mutation_p.R70L Q7Z6V5 ADAT2_HUMAN adenosine deaminase, tRNA-specific 2 70 tRNA processing hydrolase activity|zinc ion binding endometrium(2)|large_intestine(3)|lung(3) 8 OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115) TTCTGCATGTCGAGTAGCCTG 0.423000 22 146 7.87624e-14 8.55135e-14 1 1 0 C11orf16 56673 broad.mit.edu 37 11 8947080 8947080 + Silent SNP C C T rs146836226 byFrequency TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr11:8947080C>T ENST00000326053.5 - 5 1240 c.1134G>A c.(1132-1134)caG>caA p.Q378Q C11orf16_ENST00000525780.1_Silent_p.Q378Q NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 378 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) AGAGGCCACTCTGTCTCAGAG 0.547000 18 78 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20691117 20691117 + Silent SNP A A G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr7:20691117A>G ENST00000404938.2 + 13 2059 c.1407A>G c.(1405-1407)caA>caG p.Q469Q ABCB5_ENST00000443026.2_Silent_p.Q24Q|ABCB5_ENST00000406935.1_Silent_p.Q24Q|ABCB5_ENST00000258738.6_Silent_p.Q24Q|ABCB5_ENST00000477094.1_3'UTR NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 24 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TGGTTAGTCAAGAGCCTGTTT 0.438000 24 96 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 30 0 0 1 0 0 SPIB 6689 broad.mit.edu 37 19 50927009 50927009 + Missense_Mutation SNP G G T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr19:50927009G>T ENST00000595883.1 + 5 512 c.487G>T c.(487-489)Gca>Tca p.A163S SPIB_ENST00000597855.1_3'UTR|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.G297V|SPIB_ENST00000439922.2_Missense_Mutation_p.A72S|SPIB_ENST00000596074.1_3'UTR|SPIB_ENST00000270632.7_Splice_Site NM_001243999.1|NM_001244000.1|NM_003121.4 NP_001230928.1|NP_001230929.1|NP_003112.2 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 163 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GGGATCCGAGGCAGGTATGCG 0.647000 6 12 0.00116845 0.00116845 1 1 0 MYBL1 4603 broad.mit.edu 37 8 67514656 67514656 + Silent SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr8:67514656G>A ENST00000522677.3 - 2 533 c.123C>T c.(121-123)gaC>gaT p.D41D MYBL1_ENST00000517885.1_Silent_p.D41D|MYBL1_ENST00000524176.2_Silent_p.D41D NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 41 HTH myb-type 1. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) TAATTACCTCGTCCCTTGTCC 0.403000 14 54 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28195117 28195117 + Missense_Mutation SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr22:28195117G>A ENST00000302326.4 - 1 2369 c.1415C>T c.(1414-1416)tCg>tTg p.S472L NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 472 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GCCGTTCCACGAAGCGCAGCG 0.662000 T ETV6 """AML, meningioma""" 9 34 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125521571 125521571 + Missense_Mutation SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr2:125521571G>A ENST00000431078.1 + 16 2741 c.2377G>A c.(2377-2379)Gtc>Atc p.V793I NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 793 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding p.V793I(2) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CTGGAACGCCGTCTCATTTTA 0.428000 10 81 0 0 1 0 0 SNW1 22938 broad.mit.edu 37 14 78184661 78184661 + Missense_Mutation SNP T T G rs17825620 by1000genomes TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr14:78184661T>G ENST00000555761.1 - 13 1489 c.1461A>C c.(1459-1461)aaA>aaC p.K487N SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000261531.7_Intron Q13573 SNW1_HUMAN SNW domain containing 1 0 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) TATGAACTACTTTGCTTTCAC 0.438000 9 151 0 0 1 0 0 NADSYN1 55191 broad.mit.edu 37 11 71195380 71195380 + Missense_Mutation SNP G G T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr11:71195380G>T ENST00000319023.2 + 15 1530 c.1342G>T c.(1342-1344)Gat>Tat p.D448Y NADSYN1_ENST00000539574.1_Missense_Mutation_p.D188Y|NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_Missense_Mutation_p.D77Y NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 448 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCTCAACATCGATCCAGCCGT 0.582000 9 54 1.08611e-07 1.13074e-07 1 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147092873 147092873 + Splice_Site SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr7:147092873G>A ENST00000361727.3 + 10 2186 c.e10+1 NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCATAGACAGGTAAATGATCT 0.398000 HNSCC(39;0.1) 15 117 0 0 1 0 0 KATNA1 11104 broad.mit.edu 37 6 149954043 149954043 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr6:149954043C>T ENST00000367411.2 - 3 430 c.172G>A c.(172-174)Gaa>Aaa p.E58K KATNA1_ENST00000335647.5_Missense_Mutation_p.E58K|KATNA1_ENST00000335643.8_Missense_Mutation_p.E58K NM_007044.3 NP_008975.1 O75449 KTNA1_HUMAN katanin p60 (ATPase containing) subunit A 1 58 Interaction with microtubule. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 12 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) ACATTTATTTCCTGCCAAACC 0.353000 6 74 0 0 1 0 0 GTF2E1 2960 broad.mit.edu 37 3 120469446 120469446 + Missense_Mutation SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr3:120469446G>A ENST00000283875.5 + 2 140 c.47G>A c.(46-48)cGg>cAg p.R16Q NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 16 HTH TFE/IIEalpha-type. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) GCATTGAAGCGGTTAGCCAAG 0.433000 6 110 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44802942 44802942 + Missense_Mutation SNP C C A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr7:44802942C>A ENST00000309315.4 + 13 1913 c.1790C>A c.(1789-1791)tCc>tAc p.S597Y ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S597Y|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S571Y|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S565Y|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S539Y NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 597 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 ATCAAGGTGTCCCTGAAGTGC 0.592000 27 134 1.66031e-10 1.75254e-10 1 1 0 ZBTB9 221504 broad.mit.edu 37 6 33423481 33423481 + Missense_Mutation SNP G G C TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr6:33423481G>C ENST00000395064.2 + 2 872 c.604G>C c.(604-606)Gaa>Caa p.E202Q NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 GGAGGGAAGTGAACTGGGAGA 0.552000 19 106 0 0 1 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579714 35579714 + Silent SNP A A C TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr1:35579714A>C ENST00000373330.1 + 11 2457 c.2283A>C c.(2281-2283)gtA>gtC p.V761V ZMYM1_ENST00000359858.4_Silent_p.V761V|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 761 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTAAAGAAGTAAAAGAACTCC 0.318000 12 34 0 0 1 0 0 TIMM17B 10245 broad.mit.edu 37 X 48752377 48752377 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chrX:48752377C>T ENST00000396779.3 - 5 432 c.284G>A c.(283-285)cGg>cAg p.R95Q TIMM17B_ENST00000495490.2_Missense_Mutation_p.R65Q|TIMM17B_ENST00000472645.1_5'UTR|TIMM17B_ENST00000376582.3_Missense_Mutation_p.R45Q|TIMM17B_ENST00000465150.2_Missense_Mutation_p.R95Q NM_001167947.1 NP_001161419.1 O60830 TI17B_HUMAN translocase of inner mitochondrial membrane 17 homolog B (yeast) 45 protein targeting to mitochondrion integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity kidney(1)|large_intestine(1)|lung(3)|ovary(1) 6 CAACCGGTGCCGAATTCCCTG 0.547000 5 14 0 0 1 0 0 HECTD3 79654 broad.mit.edu 37 1 45475257 45475257 + Silent SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr1:45475257C>T ENST00000372172.4 - 5 929 c.858G>A c.(856-858)aaG>aaA p.K286K NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 286 DOC. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) TGGTGCCCTTCTTCATAGTAA 0.542000 18 88 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100458840 100458840 + Silent SNP C C G rs34271979 byFrequency TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr4:100458840C>G ENST00000514652.1 + 6 915 c.561C>G c.(559-561)ctC>ctG p.L187L C4orf17_ENST00000326581.4_Silent_p.L187L Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 187 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) TGGCAAAGCTCTGTAGCATTT 0.373000 7 69 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr3:126707544T>G ENST00000251772.4 + 1 108 c.39T>G c.(37-39)ggT>ggG p.G13G PLXNA1_ENST00000393409.2_Silent_p.G36G Q9UIW2 PLXA1_HUMAN plexin A1 36 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 10 17 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31854612 31854612 + Silent SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr6:31854612C>T ENST00000395728.3 - 16 2351 c.2352G>A c.(2350-2352)gtG>gtA p.V784V EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.V727V|EHMT2_ENST00000375530.4_Silent_p.V693V|EHMT2_ENST00000375528.4_Silent_p.V750V Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 727 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 GGTGGTTGTTCACCACGGCCT 0.637000 27 170 0 0 1 0 0 BAZ1A 11177 broad.mit.edu 37 14 35234031 35234031 + Missense_Mutation SNP C C G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr14:35234031C>G ENST00000360310.1 - 23 4225 c.3658G>C c.(3658-3660)Gac>Cac p.D1220H BAZ1A_ENST00000382422.2_Missense_Mutation_p.D1220H|BAZ1A_ENST00000358716.4_Missense_Mutation_p.D1188H NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1220 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CCCATACTGTCTTCCACATCT 0.448000 16 121 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186107047 186107047 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr1:186107047C>T ENST00000271588.4 + 89 14096 c.13867C>T c.(13867-13869)Cgg>Tgg p.R4623W HMCN1_ENST00000367492.2_Missense_Mutation_p.R4623W NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4623 TSP type-1 2. response to stimulus|visual perception basement membrane calcium ion binding p.R4623W(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GCATGGTGGGCGGCCATGTGA 0.468000 19 92 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41566487 41566487 + Missense_Mutation SNP A A G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr22:41566487A>G ENST00000263253.7 + 27 5583 c.4364A>G c.(4363-4365)cAg>cGg p.Q1455R RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1455 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.Q1455R(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CCTCCTGACCAGAAGATACCC 0.448000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 21 95 0 0 1 0 0 MBD1 4152 broad.mit.edu 37 18 47800573 47800573 + Missense_Mutation SNP A A G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr18:47800573A>G ENST00000591416.1 - 11 1560 c.1129T>C c.(1129-1131)Tgc>Cgc p.C377R MBD1_ENST00000588937.1_Missense_Mutation_p.C354R|MBD1_ENST00000382948.5_Missense_Mutation_p.C377R|MBD1_ENST00000591535.1_Missense_Mutation_p.C354R|MBD1_ENST00000585672.1_Missense_Mutation_p.C327R|MBD1_ENST00000424334.2_Missense_Mutation_p.C428R|MBD1_ENST00000590208.1_Missense_Mutation_p.C377R|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000436910.1_Missense_Mutation_p.C354R|MBD1_ENST00000585595.1_Missense_Mutation_p.C402R|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000269471.5_Missense_Mutation_p.C354R|MBD1_ENST00000457839.2_Missense_Mutation_p.C402R|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000339998.6_Missense_Mutation_p.C377R|MBD1_ENST00000353909.3_Missense_Mutation_p.C328R|MBD1_ENST00000269468.5_Missense_Mutation_p.C377R Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 377 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 AACTGCAGGCATTGGCGCCAA 0.642000 29 105 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995948 140995948 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chrX:140995948C>T ENST00000285879.4 + 4 3044 c.2758C>T c.(2758-2760)Ctc>Ttc p.L920F MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 920 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GCGGTTTCTTCTCCTCAAATA 0.483000 HNSCC(15;0.026) 75 278 0 0 1 0 0 WASH6P 653440 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 4 18 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14485268 14485268 + Missense_Mutation SNP A A G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr5:14485268A>G ENST00000344204.4 + 47 6772 c.6748A>G c.(6748-6750)Att>Gtt p.I2250V TRIO_ENST00000537187.1_Missense_Mutation_p.I2250V NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2250 PH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGAGACCTTCATTTTGCATTC 0.403000 20 135 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104640578 104640578 + Silent SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr4:104640578G>A ENST00000304883.2 - 1 395 c.255C>T c.(253-255)atC>atT p.I85I NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 85 integral to plasma membrane tachykinin receptor activity p.I85I(2) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) ACCAGAGCGCGATGCGCCAGG 0.647000 7 93 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820265 35820265 + Silent SNP C C T rs5928990 by1000genomes TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chrX:35820265C>T ENST00000399992.1 + 3 147 c.48C>T c.(46-48)tgC>tgT p.C16C MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR|MAGEB16_ENST00000399987.1_5'UTR A2A368 MAGBG_HUMAN melanoma antigen family B, 16 0 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TTCTTCATTGCCTGCCCTCCT 0.522000 5 59 0 0 1 0 0 FLRT3 23767 broad.mit.edu 37 20 14306771 14306771 + Missense_Mutation SNP C C T rs147588771 TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr20:14306771C>T ENST00000378053.3 - 2 1638 c.1382G>A c.(1381-1383)cGc>cAc p.R461H MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R461H NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 461 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GTACTCACTGCGTTCCCCTGT 0.463000 12 147 0 0 1 0 0 KCNA2 3737 broad.mit.edu 37 1 111147111 111147111 + Silent SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr1:111147111C>T ENST00000485317.1 - 3 967 c.294G>A c.(292-294)ttG>ttA p.L98L KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Silent_p.L98L|KCNA2_ENST00000440270.1_Silent_p.L98L|KCNA2_ENST00000369770.3_Silent_p.L98L P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 98 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CAGGTCGCCTCAATCGGCCCC 0.473000 21 65 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 4 51 0 0 1 0 0 SERPINB5 5268 broad.mit.edu 37 18 61160385 61160385 + Silent SNP T T C rs2289521 by1000genomes TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr18:61160385T>C ENST00000489441.1 + 5 719 c.624T>C c.(622-624)gaT>gaC p.D208D SERPINB5_ENST00000382771.4_Intron|SERPINB5_ENST00000464346.1_Intron P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 0 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 TGAAAAATGATAGGGACAGAG 0.453000 4 65 0 0 1 0 0 KATNA1 11104 broad.mit.edu 37 6 149954044 149954044 + Silent SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr6:149954044C>T ENST00000367411.2 - 3 429 c.171G>A c.(169-171)caG>caA p.Q57Q KATNA1_ENST00000335647.5_Silent_p.Q57Q|KATNA1_ENST00000335643.8_Silent_p.Q57Q NM_007044.3 NP_008975.1 O75449 KTNA1_HUMAN katanin p60 (ATPase containing) subunit A 1 57 Interaction with microtubule. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 12 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) CATTTATTTCCTGCCAAACCT 0.353000 6 75 0 0 1 0 0 HDAC7 51564 broad.mit.edu 37 12 48177866 48177866 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr12:48177866C>T ENST00000080059.7 - 25 2925 c.2926G>A c.(2926-2928)Gat>Aat p.D976N HDAC7_ENST00000354334.3_Missense_Mutation_p.D939N|HDAC7_ENST00000380610.4_3'UTR|HDAC7_ENST00000552960.1_Missense_Mutation_p.D959N|HDAC7_ENST00000427332.2_Missense_Mutation_p.D937N NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 937 negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) CATTACCTATCTTCAGCCAGG 0.627000 7 44 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr1:142713774A>G ENST00000610091.1 - 0 1884 CTTTTTCCACATTGTCATTTT 0.284000 6 94 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8230053 8230053 + Missense_Mutation SNP C C T rs116515695 byFrequency TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr4:8230053C>T ENST00000539824.1 + 12 2778 c.2404C>T c.(2404-2406)Cgg>Tgg p.R802W SH3TC1_ENST00000245105.3_Missense_Mutation_p.R878W Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 878 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GAGGACGGGCCGGACGAGGCA 0.677000 4 64 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230391013 230391013 + Missense_Mutation SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr1:230391013G>A ENST00000541865.1 + 9 871 c.685G>A c.(685-687)Gtg>Atg p.V229M GALNT2_ENST00000366672.4_Silent_p.P353P|GALNT2_ENST00000543760.1_Silent_p.P315P Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 85 Catalytic subdomain A. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) AGATCATCCCGTGCAGCCGTG 0.607000 18 103 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612277 20612277 + Missense_Mutation SNP G G A rs139546094 TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr14:20612277G>A ENST00000333629.1 + 1 383 c.383G>A c.(382-384)cGg>cAg p.R128Q NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GCCATCTGCCGGCCTTTACAC 0.488000 38 199 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31855596 31855596 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr6:31855596C>T ENST00000395728.3 - 13 2058 c.2059G>A c.(2059-2061)Gag>Aag p.E687K EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.E630K|EHMT2_ENST00000375530.4_Missense_Mutation_p.E596K|EHMT2_ENST00000375528.4_Missense_Mutation_p.E653K Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 630 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 TCCAGGGCCTCCCGGCCTGGC 0.662000 20 142 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739662 38739662 + Frame_Shift_Del DEL G G - TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr3:38739662delG ENST00000449082.2 - 27 5048 c.5049delC c.(5047-5049)cccfs p.P1683fs NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1683 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CATTGCTGTTGGGCAGATTGG 0.582 19 71 --- --- --- --- KIAA0196 9897 broad.mit.edu 37 8 126087241 126087241 + Splice_Site DEL T T - TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr8:126087241delT ENST00000318410.7 - 8 1326 c.977delA c.(976-978)cag>cg p.Q326fs KIAA0196_ENST00000517845.1_Splice_Site_p.Q178fs NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 326 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AGAACCTACCTGTTCTCTGAC 0.388 12 95 --- --- --- --- ACAT1 38 broad.mit.edu 37 11 108016949 108016950 + Frame_Shift_Ins INS - - A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr11:108016949_108016950insA ENST00000265838.4 + 11 1117_1118 c.1026_1027insA c.(1027-1029)aaafs p.K343fs NM_000019.3 NP_000010.1 P24752 THIL_HUMAN acetyl-CoA acetyltransferase 1 343 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2) 10 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) ATGTGGGATTGAAAAAAGAAGA 0.307 44 175 --- --- --- --- XIST 7503 broad.mit.edu 37 X 73067240 73067240 + RNA DEL T T - TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chrX:73067240delT ENST00000429829.1 - 0 5348 NR_001564.2 ATTGTCTTACttttttttttt 0.478 2 4 --- --- --- ---