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 MYH3 4621 broad.mit.edu 37 17 10537355 10537355 + Missense_Mutation SNP G G C TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr17:10537355G>C ENST00000583535.1 - 32 4588 c.4501C>G c.(4501-4503)Cgg>Ggg p.R1501G MYH3_ENST00000226209.7_Missense_Mutation_p.R1501G NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1501 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TTATTTTCCCGTTTCACAGTT 0.493000 10 89 0 0 1 0 0 AMER2 219287 broad.mit.edu 37 13 25744194 25744194 + Missense_Mutation SNP C C T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr13:25744194C>T ENST00000357816.2 - 3 1682 c.1207G>A c.(1207-1209)Gag>Aag p.E403K AMER2_ENST00000515384.1_Missense_Mutation_p.E522K|AMER2_ENST00000381853.3_Missense_Mutation_p.E403K APC membrane recruitment protein 2 p.E522*(1)|p.E403*(1) CAGTAGCCCTCGTCGCTGTTG 0.662000 7 59 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389240 1389240 + Missense_Mutation SNP G G A rs71299249 TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr4:1389240G>A ENST00000324803.4 + 1 3901 c.941G>A c.(940-942)cGt>cAt p.R314H NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 314 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCTGCTCACGTGCCCATATG 0.662000 12 182 0 0 1 0 0 ZNF471 57573 broad.mit.edu 37 19 57037154 57037154 + Missense_Mutation SNP G G A TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr19:57037154G>A ENST00000308031.5 + 5 1851 c.1718G>A c.(1717-1719)tGt>tAt p.C573Y ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 573 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) CCCTATAAATGTACTGAATGT 0.423000 8 39 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457177 110457177 + Silent SNP C C T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr8:110457177C>T ENST00000378402.5 + 38 5183 c.5079C>T c.(5077-5079)gtC>gtT p.V1693V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1693 IPT/TIG 9. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTGTAAAAGTCCTTATGGGTC 0.443000 HNSCC(38;0.096) 47 60 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 5 36 1.23904e-05 1.34678e-05 1 1 0 METTL21C 196541 broad.mit.edu 37 13 103343216 103343216 + Missense_Mutation SNP C C T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr13:103343216C>T ENST00000267273.6 - 2 234 c.229G>A c.(229-231)Gag>Aag p.E77K NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 77 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 ATGACAATCTCCTTTCCTGCA 0.453000 7 41 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42273265 42273265 + Silent SNP G G A rs143287516 TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr22:42273265G>A ENST00000361204.4 + 8 1585 c.1419G>A c.(1417-1419)gcG>gcA p.A473A NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 473 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CTCCTGTGGCGCTGGGCATGG 0.512000 6 67 0 0 1 0 0 TRBV7-1 28597 broad.mit.edu 37 7 142032456 142032456 + RNA SNP C C T TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr7:142032456C>T ENST00000547918.2 + 0 309 CTGAGGGATCCATCTCCACTC 0.567000 13 9 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103027115 103027115 + Splice_Site SNP A A G TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr11:103027115A>G ENST00000375735.2 + 26 3888 c.e26-1 DYNC2H1_ENST00000398093.3_Splice_Site|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGTGTTAAATAGGATTTAAAT 0.279000 6 10 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28928038 28928038 + Missense_Mutation SNP T T G TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr8:28928038T>G ENST00000524189.1 - 40 5502 c.5464A>C c.(5464-5466)Aaa>Caa p.K1822Q KIF13B_ENST00000404075.3_Missense_Mutation_p.K341Q NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1822 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) GCCCAGGATTTCCGGTTCTCA 0.682000 3 14 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207828 47207828 + Missense_Mutation SNP C C A TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr10:47207828C>A ENST00000355232.3 - 5 3467 c.455G>T c.(454-456)aGc>aTc p.S152I RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Missense_Mutation_p.S127I|AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.S223I(4) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TGTACAGTTGCTTCTTCTTAT 0.264000 3 34 0.00024832 0.000258667 1 1 0 MST1L 11223 broad.mit.edu 37 1 17085006 17085006 + RNA SNP C C T rs147678325 by1000genomes TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr1:17085006C>T ENST00000455405.2 - 0 182 CGGATGGCCCCCAGCCACGCG 0.607000 5 52 0 0 1 0 0 FAM111B 374393 broad.mit.edu 37 11 58877137 58877137 + Silent SNP C C T rs138558402 TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr11:58877137C>T ENST00000343597.3 + 3 230 c.39C>T c.(37-39)agC>agT p.S13S FAM111B_ENST00000411426.1_Intron|FAM111B_ENST00000529618.1_Intron NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 13 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 AGTCATTTAGCGCTATGGAAG 0.368000 3 27 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123982608 123982608 + Missense_Mutation SNP G G A TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr5:123982608G>A ENST00000306315.5 - 4 3904 c.3469C>T c.(3469-3471)Ccc>Tcc p.P1157S ZNF608_ENST00000504926.1_Missense_Mutation_p.P730S NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1157 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GGAGTAGAGGGAGCTTTTGAG 0.463000 22 69 0 0 1 0 0 SLFNL1 200172 broad.mit.edu 37 1 41483806 41483808 + In_Frame_Del DEL TCC TCC - TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr1:41483806_41483808delTCC ENST00000359345.1 - 2 3032_3034 c.456_458delGGA c.(454-459)gac>ga p.ED152del SLFNL1_ENST00000302946.8_In_Frame_Del_p.ED152del|SLFNL1_ENST00000439569.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000397197.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000372613.2_In_Frame_Del_p.ED152del NM_144990.3 NP_659427.3 Q499Z3 SLNL1_HUMAN schlafen-like 1 152 ATP binding endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) CAGGCCACTGtcctcctcctcct 0.626 2 4 --- --- --- --- AAK1 22848 broad.mit.edu 37 2 69741805 69741807 + In_Frame_Del DEL TGT TGT - TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr2:69741805_69741807delTGT ENST00000409085.4 - 13 1948_1950 c.1572_1574delACA c.(1570-1575)cag>ca p.QQ524del AAK1_ENST00000409068.1_In_Frame_Del_p.QQ524del|AAK1_ENST00000406297.3_In_Frame_Del_p.QQ524del NM_014911.3 NP_055726.3 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 524 Gln-rich. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 CATTAGCTGCTGTTGAGAGCCTC 0.502 12 8 --- --- --- --- NPIPA8 101059953 broad.mit.edu 37 16 18441114 18441116 + Splice_Site DEL CAC CAC - TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr16:18441114_18441116delCAC ENST00000339303.5 - 1 15 c.e1+1 nuclear pore complex interacting protein family, member A8 CGGCCATACTCACCACTGGGACT 0.709 4 2 --- --- --- --- ZNF720 124411 broad.mit.edu 37 16 31766972 31766972 + Frame_Shift_Del DEL G G - TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr16:31766972delG ENST00000399681.3 + 6 1839 c.1360delG c.(1360-1362)gcfs p.G454fs ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000316491.9_Intron Q7Z2F6 ZN720_HUMAN zinc finger protein 720 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding endometrium(1)|kidney(1)|lung(1)|stomach(1) 4 TAAAGAATGTGGCAAATTATT 0.338 2 4 --- --- --- --- CNOT1 23019 broad.mit.edu 37 16 58589235 58589236 + Frame_Shift_Del DEL AT AT - rs145768046 TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr16:58589235_58589236delAT ENST00000317147.5 - 21 3142_3143 c.2810_2811delAT c.(2809-2811)tfs p.Y937fs CNOT1_ENST00000569240.1_Frame_Shift_Del_p.Y932fs|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.Y937fs|CNOT1_ENST00000569732.1_5'UTR NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 937 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CTTCAAGAACATATCGTAGAGC 0.401 56 79 --- --- --- --- PLIN5 440503 broad.mit.edu 37 19 4525016 4525016 + Frame_Shift_Del DEL C C - TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chr19:4525016delC ENST00000381848.3 - 7 873 c.793delG c.(793-795)aafs p.E265fs NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 265 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 TGGCCCCATTCCCCCCACAGC 0.682 2 4 --- --- --- --- BCOR 54880 broad.mit.edu 37 X 39933743 39933743 + Frame_Shift_Del DEL T T - TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chrX:39933743delT ENST00000342274.4 - 4 1218 c.856delA c.(856-858)gcfs p.S286fs BCOR_ENST00000378444.4_Frame_Shift_Del_p.S286fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.S286fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.S286fs NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 286 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CACGGGAGGCTTTTGTCTGCG 0.607 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 2 4 --- --- --- --- UBL4A 8266 broad.mit.edu 37 X 153714628 153714628 + Frame_Shift_Del DEL G G - TCGA-WB-A81I-01A-11D-A35I-08 TCGA-WB-A81I-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25e4ee2-290d-4b48-85da-bd902fefb6fd d97d6679-1c0d-4124-841a-627d4cc62281 g.chrX:153714628delG ENST00000369660.4 - 2 178 c.93delC c.(91-93)tcfs p.S31fs UBL4A_ENST00000369653.4_Frame_Shift_Del_p.S31fs NM_014235.3 NP_055050.1 P11441 UBL4A_HUMAN ubiquitin-like 4A 31 Ubiquitin-like. protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity endometrium(5)|lung(1)|urinary_tract(1) 7 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCAGCTTCTCGGAGACCAGCT 0.701 2 4 --- --- --- ---