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 PSG7 5676 broad.mit.edu 37 19 43439887 43439887 + RNA SNP T T A TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr19:43439887T>A ENST00000406070.2 - 0 195 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TGACTTGGGCTGTGGTGGGCG 0.493000 7 258 0 0 1 0 0 REG3A 5068 broad.mit.edu 37 2 79385821 79385821 + Missense_Mutation SNP A A T TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr2:79385821A>T ENST00000393878.1 - 2 405 c.151T>A c.(151-153)Tgc>Agc p.C51S REG3A_ENST00000409839.3_Missense_Mutation_p.C51S|REG3A_ENST00000305165.2_Missense_Mutation_p.C51S|AC011754.1_ENST00000415201.1_RNA NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 51 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 AAGGCATAGCAGTGGGAGCCA 0.577000 28 39 0 0 1 0 0 AP4M1 9179 broad.mit.edu 37 7 99703909 99703909 + Silent SNP G G A TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr7:99703909G>A ENST00000429084.1 + 13 1199 c.1041G>A c.(1039-1041)gtG>gtA p.V347V AP4M1_ENST00000421755.1_Silent_p.V340V|AP4M1_ENST00000422582.1_Silent_p.V212V|AP4M1_ENST00000359593.4_Silent_p.V340V O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 340 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTCGAGGGGTGGTCAGGTGAG 0.617000 12 21 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143425445 143425445 + Silent SNP G G A TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr8:143425445G>A ENST00000524325.1 - 4 802 c.627C>T c.(625-627)ccC>ccT p.P209P TSNARE1_ENST00000307180.3_Silent_p.P209P|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Silent_p.P209P Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 209 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) AACCAGGGCTGGGGCCATGGG 0.697000 4 46 0 0 1 0 0 LRRC14 9684 broad.mit.edu 37 8 145745726 145745726 + Missense_Mutation SNP G G T TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr8:145745726G>T ENST00000292524.1 + 3 580 c.434G>T c.(433-435)cGc>cTc p.R145L LRRC14_ENST00000529022.1_Missense_Mutation_p.R145L NM_001272036.1|NM_014665.2 NP_001258965.1|NP_055480.1 Q15048 LRC14_HUMAN leucine rich repeat containing 14 145 endometrium(1)|lung(3)|prostate(1) 5 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) GCCGTAGCTCGCACATGCATT 0.657000 15 93 2.48551e-13 2.65692e-13 1 1 0 TMEM91 641649 broad.mit.edu 37 19 41889651 41889651 + Missense_Mutation SNP A A G TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr19:41889651A>G ENST00000392002.2 + 4 1052 c.392A>G c.(391-393)cAg>cGg p.Q131R TMEM91_ENST00000539627.1_3'UTR|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000356385.4_3'UTR|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000604123.1_Intron NM_001098821.1 NP_001092291.1 transmembrane protein 91 lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 GGGGACATCCAGGGGGCAGGG 0.706000 6 59 0 0 1 0 0 AFMID 125061 broad.mit.edu 37 17 76198628 76198628 + Missense_Mutation SNP A A G TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr17:76198628A>G ENST00000409257.5 + 3 257 c.203A>G c.(202-204)tAt>tGt p.Y68C AFMID_ENST00000327898.5_Missense_Mutation_p.Y68C|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_Intron NM_001010982.4|NM_001145526.2 NP_001010982.2|NP_001138998.1 Q63HM1 AFMID_HUMAN arylformamidase 68 cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CATGTCCCCTATGGAGACGGC 0.602000 8 79 0 0 1 0 0 FGL1 2267 broad.mit.edu 37 8 17743027 17743027 + Missense_Mutation SNP C C T TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr8:17743027C>T ENST00000398056.2 - 4 852 c.37G>A c.(37-39)Gct>Act p.A13T FGL1_ENST00000522444.1_Missense_Mutation_p.A13T|FGL1_ENST00000518650.1_Missense_Mutation_p.A13T|FGL1_ENST00000427924.1_Missense_Mutation_p.A13T|FGL1_ENST00000381840.2_Missense_Mutation_p.A13T|FGL1_ENST00000381841.2_Missense_Mutation_p.A13T|FGL1_ENST00000398054.1_Missense_Mutation_p.A13T Q08830 FGL1_HUMAN fibrinogen-like 1 13 signal transduction fibrinogen complex receptor binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) ATTGTCAGAGCGGTGGTAACA 0.343000 4 62 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 92 0 0 1 0 0 UPK1B 7348 broad.mit.edu 37 3 118906737 118906737 + Missense_Mutation SNP G G A TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr3:118906737G>A ENST00000264234.3 + 3 334 c.185G>A c.(184-186)gGc>gAc p.G62D UPK1B_ENST00000497685.1_5'UTR|UPK1B_ENST00000460625.1_Missense_Mutation_p.G62D NM_006952.3 NP_008883.2 O75841 UPK1B_HUMAN uroplakin 1B 62 epithelial cell differentiation integral to membrane structural molecule activity breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 14 GBM - Glioblastoma multiforme(114;0.222) GCCTGGATCGGCATATTTGTG 0.502000 4 128 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33481307 33481307 + Missense_Mutation SNP C C T TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr10:33481307C>T ENST00000265371.4 - 14 2489 c.1964G>A c.(1963-1965)gGc>gAc p.G655D NRP1_ENST00000374867.2_Missense_Mutation_p.G655D|NRP1_ENST00000395995.1_Missense_Mutation_p.G655D O14786 NRP1_HUMAN neuropilin 1 655 MAM. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CTTGTGAGAGCCCCAGCCAAA 0.453000 9 339 0 0 1 0 0 WDR18 57418 broad.mit.edu 37 19 990319 990319 + Silent SNP C C T TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr19:990319C>T ENST00000251289.5 + 4 575 c.552C>T c.(550-552)ggC>ggT p.G184G WDR18_ENST00000587001.2_Silent_p.G184G NM_024100.3 NP_077005.2 Q9BV38 WDR18_HUMAN WD repeat domain 18 184 endometrium(1)|kidney(2)|lung(2)|skin(2) 7 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTTGGGGGCCCCCTGGCCC 0.716000 3 14 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344028 248344028 + Silent SNP G G A TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr1:248344028G>A ENST00000359682.2 + 1 741 c.741G>A c.(739-741)gtG>gtA p.V247V NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACCTCATGGTGGTGGGAATGT 0.493000 5 240 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81381500 81381500 + Silent SNP G G A TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr7:81381500G>A ENST00000222390.5 - 5 787 c.561C>T c.(559-561)ccC>ccT p.P187P HGF_ENST00000423064.2_Silent_p.P187P|HGF_ENST00000444829.2_Silent_p.P187P|HGF_ENST00000457544.2_Silent_p.P182P|HGF_ENST00000453411.1_Silent_p.P182P NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 187 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TGAAACACCAGGGTCCCCCTT 0.443000 4 64 0 0 1 0 0 SLC25A43 203427 broad.mit.edu 37 X 118540494 118540494 + Missense_Mutation SNP C C T TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chrX:118540494C>T ENST00000217909.7 + 2 691 c.347C>T c.(346-348)gCa>gTa p.A116V SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Missense_Mutation_p.A116V NM_145305.2 NP_660348.2 Q8WUT9 S2543_HUMAN solute carrier family 25, member 43 116 transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 9 GGGAGTCTCGCAGGCATGGTT 0.512000 4 94 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190878646 190878646 + Nonsense_Mutation SNP G G T TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr4:190878646G>T ENST00000226798.4 + 6 748 c.526G>T c.(526-528)Gaa>Taa p.E176* FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 176 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus p.E176*(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGGAGAAGAAGAAATGATCAA 0.373000 4 75 1.12685e-05 1.12685e-05 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152651592 152651592 + Missense_Mutation SNP G G A TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr6:152651592G>A ENST00000367255.5 - 78 14829 c.14228C>T c.(14227-14229)aCa>aTa p.T4743I SYNE1_ENST00000423061.1_Missense_Mutation_p.T4672I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T4743I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4490I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T4672I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4743 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGCTGACCTGTGCTGCGAAA 0.517000 HNSCC(10;0.0054) 6 73 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32198783 32198783 + Missense_Mutation SNP G G A TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr22:32198783G>A ENST00000400246.1 + 15 1182 c.1040G>A c.(1039-1041)cGc>cAc p.R347H DEPDC5_ENST00000382105.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R347H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R347H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R319H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R347H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R347H|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R347H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R347H O75140 DEPD5_HUMAN DEP domain containing 5 347 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GAAGTGGACCGCCTACTCATG 0.498000 4 110 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147091046 147091046 + Missense_Mutation SNP C C T TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr1:147091046C>T ENST00000234739.3 + 8 1825 c.1085C>T c.(1084-1086)tCc>tTc p.S362F NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 362 CTNNB1-binding.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CGGGAGCGCTCCTTACAAACT 0.567000 T """IGH@, IGL@""" B-ALL 7 163 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43439893 43439893 + RNA SNP G G A TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr19:43439893G>A ENST00000406070.2 - 0 189 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GGGCTGTGGTGGGCGGGTTCC 0.507000 8 253 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8215408 8215408 + Silent SNP T T C TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr17:8215408T>C ENST00000361926.3 + 2 161 c.51T>C c.(49-51)ccT>ccC p.P17P ARHGEF15_ENST00000421050.1_Silent_p.P17P NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 17 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 AGAAGCCCCCTCGGATCATCC 0.627000 5 60 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 29 45 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999469 46999469 + Missense_Mutation SNP C C A TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr10:46999469C>A ENST00000374314.4 + 1 1544 c.589C>A c.(589-591)Cca>Aca p.P197T GPRIN2_ENST00000374317.1_Missense_Mutation_p.P197T O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 197 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GTTGTCAGTGCCACCACTAGA 0.632000 9 26 1.12685e-05 1.12685e-05 1 1 0 ZNF623 9831 broad.mit.edu 37 8 144732640 144732640 + Missense_Mutation SNP G G A TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr8:144732640G>A ENST00000501748.2 + 1 687 c.598G>A c.(598-600)Gtt>Att p.V200I ZNF623_ENST00000458270.2_Missense_Mutation_p.V160I|ZNF623_ENST00000526926.1_Missense_Mutation_p.V160I NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCATCAGCGCGTTCATTCAGG 0.473000 4 108 0 0 1 0 0 GBAP1 0 broad.mit.edu 37 1 155186353 155186353 + RNA SNP T T C TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr1:155186353T>C ENST00000486869.1 - 0 715 NR_002188.2 AGCAGAAGGCTCATTTTCAGC 0.527000 3 27 0 0 1 0 0 XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 2 4 --- --- --- --- CCDC86 79080 broad.mit.edu 37 11 60610042 60610043 + Frame_Shift_Ins INS - - C rs138154956 TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr11:60610042_60610043insC ENST00000227520.5 + 1 499_500 c.445_446insC c.(445-447)cccfs p.P149fs RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA NM_024098.3 NP_077003.1 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 149 Pro-rich. interspecies interaction between organisms nucleus endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10 GACCCCGGGGGCCCCCCAGCAT 0.634 7 97 --- --- --- --- KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 9 9 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 14 66 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148706 45148708 + In_Frame_Del DEL TGC TGC - rs112613609 TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr13:45148706_45148708delTGC ENST00000458659.2 - 1 1993_1995 c.1503_1505delGCA c.(1501-1506)caa>ca p.QQ507del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 507 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ttgttgttgttgctgctgctgct 0.507 7 154 --- --- --- --- FARP1 10160 broad.mit.edu 37 13 99038023 99038023 + Frame_Shift_Del DEL G G - TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr13:99038023delG ENST00000376586.2 + 8 1050 c.714delG c.(712-714)acfs p.T238fs FARP1_ENST00000595437.1_Frame_Shift_Del_p.T238fs|FARP1_ENST00000319562.6_Frame_Shift_Del_p.T238fs Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 238 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GGGAAGGCACGAAGATCAATC 0.537 7 79 --- --- --- --- PML 5371 broad.mit.edu 37 15 74287226 74287226 + Frame_Shift_Del DEL C C - TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr15:74287226delC ENST00000565898.1 + 1 157 c.73delC c.(73-75)ccfs p.P26fs PML_ENST00000563500.1_Frame_Shift_Del_p.P26fs|PML_ENST00000268058.3_Frame_Shift_Del_p.P26fs|PML_ENST00000268059.6_Frame_Shift_Del_p.P26fs|PML_ENST00000436891.3_Frame_Shift_Del_p.P26fs|PML_ENST00000395132.2_Frame_Shift_Del_p.P26fs|PML_ENST00000395135.3_Frame_Shift_Del_p.P26fs|PML_ENST00000359928.4_Frame_Shift_Del_p.P26fs|PML_ENST00000354026.6_Frame_Shift_Del_p.P26fs|PML_ENST00000569477.1_Frame_Shift_Del_p.P26fs|PML_ENST00000567543.1_Frame_Shift_Del_p.P26fs|PML_ENST00000569965.1_Frame_Shift_Del_p.P26fs|PML_ENST00000435786.2_Frame_Shift_Del_p.P26fs|PML_ENST00000564428.1_Frame_Shift_Del_p.P26fs P29590 PML_HUMAN promyelocytic leukemia 26 Pro-rich. cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 CACCATGCCTCCCCCCGAGAC 0.652 T """RARA, PAX5""" """APL, ALL""" 2 4 --- --- --- --- MADCAM1 8174 broad.mit.edu 37 19 501701 501702 + In_Frame_Ins INS - - ACACCACCTCCCCGGAGCCTCCCA rs71171990 byFrequency TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr19:501701_501702insACACCACCTCCCCGGAGCCTCCCA ENST00000587541.1 + 2 897_898 c.43_44insACACCACCTCCCCGGAGCCTCCCA c.(43-45)cac>ACACCACCTCCCCGGAGCCTCCCAcac p.14_15insTPPPRSLP MADCAM1_ENST00000215637.3_In_Frame_Ins_p.233_234insTPPPRSLP|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA Q13477 MADCA_HUMAN mucosal vascular addressin cell adhesion molecule 1 233 cell adhesion|immune response|regulation of immune response|signal transduction integral to membrane|membrane fraction|plasma membrane central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGCCTCCCGACACCACCTCC 0.653 16 33 --- --- --- --- AC005307.3 0 broad.mit.edu 37 19 29197819 29197819 + RNA DEL C C - TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr19:29197819delC ENST00000592347.1 - 0 642 GTTGTGTCTTCCATACCCACC 0.398 2 4 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18843723 18843724 + RNA INS - - A TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr22:18843723_18843724insA ENST00000412938.1 + 0 2337 AGGGGCACCCCACGGCCTGGAG 0.619 4 6 --- --- --- --- GUSBP11 0 broad.mit.edu 37 22 24000276 24000281 + RNA DEL TCCTCT TCCTCT - rs138300012 TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chr22:24000276_24000281delTCCTCT ENST00000417194.1 - 0 5003_5004 ttcttttTTctcctcttcctcttcct 0.476 2 4 --- --- --- --- ZNF41 7592 broad.mit.edu 37 X 47326846 47326846 + Frame_Shift_Del DEL G G - rs34711808 TCGA-KS-A41F-01A-11D-A23M-08 TCGA-KS-A41F-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58701cf8-a5ac-4479-8157-0d1f04688a4b 476ae26c-331a-4fbe-a53f-aae55bfb5de3 g.chrX:47326846delG ENST00000377065.4 - 2 674 c.35delC c.(34-36)cgfs p.P12fs ZNF41_ENST00000397050.2_Frame_Shift_Del_p.R9fs|ZNF41_ENST00000313116.7_Frame_Shift_Del_p.P12fs|ZNF41_ENST00000465311.1_5'UTR NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 12 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) AGCCAGGGCCGGGGACCATGG 0.612 2 4 --- --- --- ---