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 CATSPERD 257062 broad.mit.edu 37 19 5745924 5745924 + Splice_Site SNP G G A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:5745924G>A ENST00000381624.3 + 9 719 c.657_splice c.e9-1 p.G220_splice CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 220 integral to membrane TTTCTCCCAGGGCATGTTCAA 0.552000 138 1237 0 0 1 0 0 TBX3 6926 broad.mit.edu 37 12 115112388 115112388 + Missense_Mutation SNP G G A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:115112388G>A ENST00000349155.2 - 6 2255 c.1292C>T c.(1291-1293)gCg>gTg p.A431V TBX3_ENST00000257566.3_Missense_Mutation_p.A451V NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 451 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) GCGCTCCTCCGCGCCCAGGCC 0.751000 6 64 0 0 1 0 0 EEF1DP3 0 broad.mit.edu 37 13 32527529 32527529 + RNA SNP A A G rs916756 by1000genomes TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr13:32527529A>G ENST00000428783.1 + 0 1229 GCCCGCGTGCATGAGGCCCTG 0.443000 8 267 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 17 350 0 0 1 0 0 PHC1 1911 broad.mit.edu 37 12 9085340 9085340 + Silent SNP G G A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:9085340G>A ENST00000433083.2 + 7 1297 c.1152G>A c.(1150-1152)caG>caA p.Q384Q PHC1_ENST00000543824.1_Silent_p.Q429Q|PHC1_ENST00000536844.1_Silent_p.Q208Q|PHC1_ENST00000544916.1_Silent_p.Q429Q|PHC1_ENST00000433847.2_3'UTR P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 429 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 agcagcagcagcaacaacagc 0.622000 10 293 0 0 1 0 0 RRP8 23378 broad.mit.edu 37 11 6622389 6622389 + Missense_Mutation SNP G G T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:6622389G>T ENST00000254605.6 - 3 1024 c.907C>A c.(907-909)Ctt>Att p.L303I RRP8_ENST00000534343.1_Intron NM_015324.3 NP_056139.1 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, homolog (yeast) 303 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 CGCTGGCGAAGATCCCTGGCG 0.572000 26 187 3.28513e-13 3.32619e-13 1 1 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 8 161 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 22 665 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr20:29625955A>T ENST00000278882.3 + 5 579 c.199A>T c.(199-201)Aga>Tga p.R67* FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338000 25 600 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20676316 20676316 + Missense_Mutation SNP C C T rs141654146 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:20676316C>T ENST00000525748.1 + 16 2569 c.2296C>T c.(2296-2298)Cgc>Tgc p.R766C SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 766 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AGCTCAACACCGCGGGGAGCG 0.542000 24 640 0 0 1 0 0 ASH2L 9070 broad.mit.edu 37 8 37974234 37974234 + Missense_Mutation SNP A A T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:37974234A>T ENST00000343823.6 + 8 1153 c.844A>T c.(844-846)Aat>Tat p.N282Y ASH2L_ENST00000545394.1_Missense_Mutation_p.N143Y|ASH2L_ENST00000428278.2_Missense_Mutation_p.N188Y|ASH2L_ENST00000250635.7_Missense_Mutation_p.N188Y|ASH2L_ENST00000524263.1_3'UTR|ASH2L_ENST00000521652.1_Missense_Mutation_p.N188Y NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 282 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) TACTAGTGGGAATTTAAATGG 0.378000 30 310 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76349893 76349893 + Missense_Mutation SNP A A T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr5:76349893A>T ENST00000312916.7 + 10 1953 c.1571A>T c.(1570-1572)gAt>gTt p.D524V NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 524 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) GATACCTGTGATGGCTGTGAA 0.408000 59 653 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47045114 47045114 + Splice_Site SNP G G C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chrX:47045114G>C ENST00000377604.3 + 21 3097 c.e21-1 RBM10_ENST00000329236.7_Splice_Site|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Splice_Site NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CCCTCTTGCAGCAAAACCTTG 0.562000 15 54 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37354484 37354484 + Silent SNP G G A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:37354484G>A ENST00000310758.4 - 4 809 c.162C>T c.(160-162)gcC>gcT p.A54A ELMO1_ENST00000442504.1_Silent_p.A54A|ELMO1_ENST00000448602.1_Silent_p.A54A NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 54 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TTGAACTATCGGCATGCTGGA 0.328000 15 173 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152651474 152651474 + Silent SNP T T C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:152651474T>C ENST00000367255.5 - 78 14947 c.14346A>G c.(14344-14346)gaA>gaG p.E4782E SYNE1_ENST00000341594.5_Silent_p.E4529E|SYNE1_ENST00000423061.1_Silent_p.E4711E|SYNE1_ENST00000448038.1_Silent_p.E4711E|SYNE1_ENST00000265368.4_Silent_p.E4782E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4782 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) TCTTCTCGTGTTCTTGGTAAG 0.478000 HNSCC(10;0.0054) 14 304 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321508 52321508 + Silent SNP G G C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:52321508G>C ENST00000356297.4 - 17 2776 c.2676C>G c.(2674-2676)gcC>gcG p.A892A PXDNL_ENST00000543296.1_Silent_p.A892A NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 892 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CATCGATGTAGGCTGTTTGCT 0.617000 34 317 0 0 1 0 0 MLF2 8079 broad.mit.edu 37 12 6858098 6858098 + Missense_Mutation SNP G G A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:6858098G>A ENST00000203630.5 - 8 1254 c.610C>T c.(610-612)Cgg>Tgg p.R204W MLF2_ENST00000435120.1_Missense_Mutation_p.R204W|MLF2_ENST00000539187.1_Missense_Mutation_p.R204W|MLF2_ENST00000542154.1_Missense_Mutation_p.R204W Q15773 MLF2_HUMAN myeloid leukemia factor 2 204 defense response cytoplasm|nucleus protein binding kidney(2)|large_intestine(3)|lung(4) 9 CGCTGCTGCCGGAATCGGGAG 0.687000 16 149 0 0 1 0 0 BST2 684 broad.mit.edu 37 19 17515193 17515193 + Silent SNP C C A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:17515193C>A ENST00000252593.6 - 2 411 c.339G>T c.(337-339)gtG>gtT p.V113V BST2_ENST00000527220.1_Intron NM_004335.2 NP_004326.1 Q10589 BST2_HUMAN bone marrow stromal cell antigen 2 113 B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome protein homodimerization activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2) 9 CAAGCTCCTCCACTTTCTTTT 0.582000 91 732 2.1459e-41 2.25738e-41 1 1 0 DNM1P47 0 broad.mit.edu 37 15 102293008 102293008 + RNA SNP A A C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:102293008A>C ENST00000561463.1 + 0 1054 p.K171E(1) GCGTGGGAACAAGAAGACACT 0.582000 4 41 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20019865 20019865 + Missense_Mutation SNP G G T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr14:20019865G>T ENST00000551509.1 - 1 407 c.356C>A c.(355-357)cCc>cAc p.P119H NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 119 endometrium(4)|kidney(1)|lung(4) 9 GTCTCCCCAGGGGCCCACTTT 0.602000 176 1751 9.5628e-27 9.9306e-27 1 1 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 15 427 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56274646 56274646 + Nonsense_Mutation SNP C C T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr18:56274646C>T ENST00000361673.3 - 3 348 c.135G>A c.(133-135)tgG>tgA p.W45* NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 45 Ig-like 1. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CATTCTTATACCAAGTTACCT 0.348000 38 225 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23885302 23885302 + Missense_Mutation SNP G G C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr14:23885302G>C ENST00000355349.3 - 34 5026 c.4864C>G c.(4864-4866)Ctc>Gtc p.L1622V NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1622 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATCTCATTGAGGTCTCCTTCC 0.607000 93 701 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321471 52321471 + Missense_Mutation SNP G G A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:52321471G>A ENST00000356297.4 - 17 2813 c.2713C>T c.(2713-2715)Cgg>Tgg p.R905W PXDNL_ENST00000543296.1_Missense_Mutation_p.R905W NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 905 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGGGATTCCCGCTCCGAGCTC 0.587000 8 287 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 13 509 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47704430 47704430 + Silent SNP C C T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr21:47704430C>T ENST00000397708.1 - 2 1025 c.771G>A c.(769-771)gcG>gcA p.A257A MCM3AP_ENST00000291688.1_Silent_p.A257A O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 257 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CGCCCAAAACCGCAGATGATA 0.468000 93 677 0 0 1 0 0 APLF 200558 broad.mit.edu 37 2 68729986 68729986 + Missense_Mutation SNP T T A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:68729986T>A ENST00000303795.4 + 3 463 c.292T>A c.(292-294)Ttc>Atc p.F98I NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 98 FHA-like. double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 CAAATACATTTTCCGCATTCT 0.373000 126 789 0 0 1 0 0 PI4KAP2 0 broad.mit.edu 37 22 21829555 21829555 + RNA SNP T T G TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr22:21829555T>G ENST00000450651.1 - 0 1783 p.I530L(4) endometrium(3)|urinary_tract(1) 4 TCCAACATGATAGTGACCAGG 0.607000 7 55 0 0 1 0 0 PARM1 25849 broad.mit.edu 37 4 75959110 75959110 + Missense_Mutation SNP A A G TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:75959110A>G ENST00000307428.7 + 3 999 c.787A>G c.(787-789)Acc>Gcc p.T263A RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Missense_Mutation_p.T21A NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 263 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CGCCGCCATTACCGTGACAGT 0.493000 3 65 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47968987 47968987 + Splice_Site SNP T T C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:47968987T>C ENST00000236877.6 - 2 1069 c.675_splice c.e2+1 p.Q225_splice SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 225 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) TTTGCTCACCTGGACCACACC 0.478000 6 98 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54744909 54744909 + Silent SNP G G A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:54744909G>A ENST00000440558.2 - 5 801 c.753C>T c.(751-753)taC>taT p.Y251Y LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Silent_p.Y251Y|LILRA6_ENST00000396365.2_Silent_p.Y251Y|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Silent_p.Y251Y leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAAATCTGTCGTAGCCGACAT 0.652000 53 957 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 14 704 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29295765 29295765 + Missense_Mutation SNP G G T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:29295765G>T ENST00000331664.5 - 1 1362 c.1363C>A c.(1363-1365)Cca>Aca p.P455T NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 455 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 GAATCACATGGGGTGCTTGTC 0.552000 28 482 1.74197e-06 1.74197e-06 1 1 0 TRIM37 4591 broad.mit.edu 37 17 57158534 57158534 + Missense_Mutation SNP T T A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:57158534T>A ENST00000376149.3 - 6 859 c.50A>T c.(49-51)cAc>cTc p.H17L TRIM37_ENST00000262294.7_Missense_Mutation_p.H139L|TRIM37_ENST00000393066.3_Missense_Mutation_p.H139L|TRIM37_ENST00000393065.2_Missense_Mutation_p.H105L O94972 TRI37_HUMAN tripartite motif containing 37 139 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TTTAGTGACGTGTTGCTCATA 0.373000 Mulibrey Nanism 39 733 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92569867 92569867 + Missense_Mutation SNP C C T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:92569867C>T ENST00000298047.6 + 15 10239 c.10222C>T c.(10222-10224)Cgg>Tgg p.R3408W FAT3_ENST00000525166.1_Missense_Mutation_p.R3258W|FAT3_ENST00000409404.2_Missense_Mutation_p.R3408W Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3408 Cadherin 31. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGACCGGGAACGGGTAAGCTA 0.438000 TCGA Ovarian(4;0.039) 33 200 0 0 1 0 0 SORT1 6272 broad.mit.edu 37 1 109883487 109883487 + Missense_Mutation SNP T T C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:109883487T>C ENST00000256637.6 - 10 1181 c.1123A>G c.(1123-1125)Aca>Gca p.T375A SORT1_ENST00000538502.1_Missense_Mutation_p.T238A NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 375 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) GTAAAGATTGTGCCAAACCCA 0.443000 45 231 0 0 1 0 0 PI4KAP1 0 broad.mit.edu 37 22 20385733 20385733 + RNA SNP A A G TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr22:20385733A>G ENST00000430523.3 - 0 2078 NR_003563.1 TACTTCAAGAACTTGATTGTC 0.537000 4 43 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95610736 95610736 + Silent SNP T T C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr9:95610736T>C ENST00000395505.2 - 3 317 c.225A>G c.(223-225)ccA>ccG p.P75P ZNF484_ENST00000395506.3_Silent_p.P113P|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Silent_p.P75P|ZNF484_ENST00000375495.3_Silent_p.P111P NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 111 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 AAATGGAATATGGGTCATCTC 0.363000 95 504 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296403 145296403 + Silent SNP C C T rs4996269 by1000genomes TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:145296403C>T ENST00000342960.5 + 3 360 c.325C>T c.(325-327)Cta>Tta p.L109L NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 109 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCTGACCCAGCTAAGGGAGAA 0.517000 37 1220 0 0 1 0 0 RP11-206L10.8 0 broad.mit.edu 37 1 745371 745371 + RNA DEL A A - rs146246821 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:745371delA ENST00000447500.1 - 0 95 TTTATTTCATAAGATAGCATT 0.299 8 62 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;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;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 13 1213 --- --- --- --- RERE 473 broad.mit.edu 37 1 8716109 8716109 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:8716109delT ENST00000337907.3 - 3 882 c.248delA c.(247-249)agfs p.K83fs RERE_ENST00000400907.2_Frame_Shift_Del_p.K83fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.K83fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 83 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ATAACGAGACTTTTTTTTCGG 0.453 11 2247 --- --- --- --- PRAMEF11 440560 broad.mit.edu 37 1 12885336 12885336 + Frame_Shift_Del DEL G G - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:12885336delG ENST00000535591.1 - 4 970 c.775delC c.(775-777)tcfs p.L259fs NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 259 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GTTATTGTGAGGACCTTTAAC 0.498 29 51 --- --- --- --- PRDM2 7799 broad.mit.edu 37 1 14105095 14105097 + In_Frame_Del DEL GAG GAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:14105095_14105097delGAG ENST00000235372.7 + 8 1661_1663 c.805_807delGAG c.(805-807)del p.E276del PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_In_Frame_Del_p.E75del|PRDM2_ENST00000413440.1_In_Frame_Del_p.E75del|PRDM2_ENST00000311066.5_In_Frame_Del_p.E276del NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 276 Asp/Glu-rich (acidic). EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 4; AAA87023). Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TTTgggggaagaggaggaggagg 0.532 10 489 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:16255142_16255143delGA ENST00000375759.3 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)gfs p.E803fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 9 675 --- --- --- --- AHDC1 27245 broad.mit.edu 37 1 27875353 27875355 + In_Frame_Del DEL AGG AGG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:27875353_27875355delAGG ENST00000374011.2 - 6 4240_4242 c.3272_3274delCCT c.(3271-3276)ttc>t p.SF1091del AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1091 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GAGGGCTGGAaggaggaggagga 0.665 10 308 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 12 938 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 17 1462 --- --- --- --- SLC6A9 6536 broad.mit.edu 37 1 44489938 44489938 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:44489938delT ENST00000372310.3 - 2 177 c.12delA c.(10-12)aafs p.K4fs SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 335 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CTTTGGCACCTTTTCCTACCA 0.627 9 2189 --- --- --- --- RP5-1198O20.4 0 broad.mit.edu 37 1 44570056 44570058 + RNA DEL CTG CTG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:44570056_44570058delCTG ENST00000434244.1 + 0 2053_2055 TCCCAGCCGTCTGCTGCTGCTGC 0.576 8 518 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 13 462 --- --- --- --- LRRC41 10489 broad.mit.edu 37 1 46752129 46752129 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:46752129delA ENST00000343304.6 - 4 685 c.400delT c.(400-402)ccfs p.S134fs LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 134 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) AGAACATGGGAAAAAAAGGCC 0.483 7 543 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325282 47325282 + RNA DEL A A - rs10712628 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:47325282delA ENST00000505841.1 - 0 1204 NR_002788.2 ATTTCAATCCAAACATAGCTG 0.393 12 257 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325312 47325315 + RNA DEL AGTT AGTT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:47325312_47325315delAGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAAGTTGTTTTAAGAC 0.412 19 436 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 7 449 --- --- --- --- JAK1 3716 broad.mit.edu 37 1 65306996 65306997 + Frame_Shift_Ins INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:65306996_65306997insT ENST00000342505.4 - 19 2828_2829 c.2580_2581insA c.(2578-2583)aacagcfs p.NS860fs NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 860 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCAGTTGCTGGTTTTTTTTCTG 0.470 Mis ALL 10 734 --- --- --- --- BRDT 676 broad.mit.edu 37 1 92447228 92447230 + In_Frame_Del DEL AGC AGC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:92447228_92447230delAGC ENST00000370389.2 + 12 2623_2625 c.1699_1701delAGC c.(1699-1701)del p.S575del BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) ACTGAGTGAGagcagcagcagca 0.419 16 558 --- --- --- --- SLC25A24 29957 broad.mit.edu 37 1 108700183 108700183 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:108700183delT ENST00000565488.1 - 5 789 c.570delA c.(568-570)aafs p.K190fs SLC25A24_ENST00000370041.4_Frame_Shift_Del_p.K171fs NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 190 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding p.K171fs*29(1)|p.K190fs*29(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) ATTGTCCGGATTTTTTTTCGT 0.453 10 698 --- --- --- --- ADAM30 11085 broad.mit.edu 37 1 120436591 120436591 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:120436591delT ENST00000369400.1 - 1 2527 c.2369delA c.(2368-2370)agfs p.K790fs NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 790 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GCCCGGTTACTTTTTTTGTTT 0.358 11 1747 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142720897 142720898 + RNA INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:142720897_142720898insA ENST00000595144.1 - 0 204_205 GCTCTTCCTCTAAGCCACTGGT 0.277 43 162 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210446 143210446 + RNA DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:143210446delT ENST00000412204.2 - 0 624 RP11-782C8.1_ENST00000438000.1_lincRNA GTCCATATACTAAAAAGGTTA 0.284 8 143 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 15 108 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144863324 144863324 + Frame_Shift_Del DEL G G - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:144863324delG ENST00000369359.4 - 40 6525 c.6487delC c.(6487-6489)tgfs p.L2163fs PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.L2112fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.L1921fs|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.L2027fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.L2027fs|PDE4DIP_ENST00000524974.1_5'UTR Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2027 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATACCTTTCAGCCCCTTCTTG 0.488 T PDGFRB MPD 17 1318 --- --- --- --- MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:150551492_150551494delTCC ENST00000369026.2 - 1 572_574 c.513_515delGGA c.(511-516)gac>ga p.ED171del MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 8 616 --- --- --- --- SPRR3 6707 broad.mit.edu 37 1 152975806 152975829 + In_Frame_Del DEL CCAGGCTACACCAAGGTCCCTGAA CCAGGCTACACCAAGGTCCCTGAA - rs1970328 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA ENST00000331860.3 + 3 460_483 c.310_333delCCAGGCTACACCAAGGTCCCTGAA c.(310-333)del p.PGYTKVPE104del SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del|SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 104 14 X 8 AA approximate tandem repeats. Missing. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity p.Y106C(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA 0.567 40 380 --- --- --- --- APOA1BP 128240 broad.mit.edu 37 1 156562376 156562376 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:156562376delA ENST00000368235.3 + 4 473 c.430delA c.(430-432)aafs p.K144fs APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs NM_144772.2 NP_658985.2 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 144 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTATTACCCCAAAAGGCCTAA 0.567 7 2036 --- --- --- --- CCDC181 57821 broad.mit.edu 37 1 169366580 169366580 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:169366580delT ENST00000545005.1 - 6 1769 c.1262delA c.(1261-1263)agfs p.K421fs CCDC181_ENST00000367806.3_Frame_Shift_Del_p.K422fs|CCDC181_ENST00000367805.3_Frame_Shift_Del_p.K421fs coiled-coil domain containing 181 CTCTTCGTGCTTTTTTTTAAG 0.363 7 326 --- --- --- --- SCYL3 57147 broad.mit.edu 37 1 169833511 169833511 + Splice_Site DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:169833511delT ENST00000367772.4 - 9 1151 c.955_splice c.e9+1 p.K318_splice SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 318 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGCATTCACCTTTTTTGGGGC 0.393 10 867 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 8 764 --- --- --- --- SYT2 127833 broad.mit.edu 37 1 202573647 202573649 + In_Frame_Del DEL TTC TTC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:202573647_202573649delTTC ENST00000367267.1 - 3 471_473 c.279_281delGAA c.(277-282)aac>aa p.KN93del RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 93 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity p.N94S(1) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) ctccttcttgttcttcttcttct 0.532 8 780 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214588042 214588042 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:214588042delT ENST00000366956.5 - 4 566 c.372delA c.(370-372)aafs p.K124fs PTPN14_ENST00000543945.1_Frame_Shift_Del_p.K124fs NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 124 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CAAGCACATCTTTTTTGACTT 0.423 7 1232 --- --- --- --- PARP1 142 broad.mit.edu 37 1 226570820 226570820 + Frame_Shift_Del DEL G G - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:226570820delG ENST00000366794.5 - 8 1219 c.1076delC c.(1075-1077)cafs p.P359fs NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 359 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GCTGGTTTCTGGGGGGAATAT 0.502 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 8 2551 --- --- --- --- TAF5L 27097 broad.mit.edu 37 1 229730385 229730385 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:229730385delA ENST00000258281.2 - 5 1594 c.1429delT c.(1429-1431)ctfs p.S477fs TAF5L_ENST00000366676.1_Frame_Shift_Del_p.S477fs NM_014409.3 NP_055224.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 477 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) CCGTTGGGAGAAAAGGCGAGA 0.602 8 908 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 12 326 --- --- --- --- NT5C1B 93034 broad.mit.edu 37 2 18765869 18765871 + In_Frame_Del DEL GCT GCT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:18765869_18765871delGCT ENST00000304081.4 - 4 732_734 c.632_634delAGC c.(631-636)cgg>c p.QR211del NT5C1B_ENST00000600945.1_In_Frame_Del_p.QR271del|NT5C1B-RDH14_ENST00000532967.1_In_Frame_Del_p.QR271del|NT5C1B_ENST00000359846.2_In_Frame_Del_p.QR271del NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TCGTCCTCCCGCTGCTGCTGCTG 0.670 7 127 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:26693554_26693556delCTT ENST00000272371.2 - 32 4054_4056 c.3928_3930delAAG c.(3928-3930)del p.K1310del OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1310 Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCAGTGCCcttcttcttcttc 0.576 9 550 --- --- --- --- CEBPZ 10153 broad.mit.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:37454908delT ENST00000234170.5 - 2 1573 c.1428delA c.(1426-1428)aafs p.K476fs NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 476 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) ATTCAACATCTTTTTTTTTGA 0.368 11 380 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 10 656 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 17 704 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39213243 39213243 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:39213243delT ENST00000426016.1 - 24 3810 c.3724delA c.(3724-3726)gtfs p.S1242fs SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1242 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) CCATGGTCACTTTTTTTGCCC 0.517 Noonan syndrome 8 616 --- --- --- --- CCDC88A 55704 broad.mit.edu 37 2 55549818 55549818 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:55549818delT ENST00000436346.1 - 18 3849 c.3008delA c.(3007-3009)atfs p.N1003fs CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1003 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 AGCTTCATAATTTTTTTTCAC 0.353 10 436 --- --- --- --- VRK2 7444 broad.mit.edu 37 2 58373509 58373509 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:58373509delA ENST00000435505.2 + 15 1827 c.1082delA c.(1081-1083)gafs p.E361fs VRK2_ENST00000412104.2_Frame_Shift_Del_p.E361fs|VRK2_ENST00000417641.2_Frame_Shift_Del_p.E361fs|VRK2_ENST00000440705.2_Frame_Shift_Del_p.E338fs|VRK2_ENST00000340157.4_Frame_Shift_Del_p.E361fs Q86Y07 VRK2_HUMAN vaccinia related kinase 2 361 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 AGGTTAATCGAAAAAAAAGTC 0.383 7 405 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 8 29 --- --- --- --- ST3GAL5 8869 broad.mit.edu 37 2 86075293 86075293 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:86075293delT ENST00000377332.3 - 4 461 c.353delA c.(352-354)agfs p.K118fs ST3GAL5_ENST00000393805.1_Frame_Shift_Del_p.K90fs|ST3GAL5_ENST00000393808.3_Frame_Shift_Del_p.K95fs NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 118 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 ACGACATTCCTTCTGCAAGAC 0.433 9 2081 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 14 446 --- --- --- --- ANKRD36 375248 broad.mit.edu 37 2 97808574 97808575 + Splice_Site INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:97808574_97808575insA ENST00000420699.2 + 8 1145 c.e8+2 ANKRD36_ENST00000461153.2_Splice_Site NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 p.?(1) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CTGGGACAGGTATTTTGGAATA 0.366 21 49 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 13 1791 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087914 109087914 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:109087914delT ENST00000309863.6 + 6 2843 c.2129delT c.(2128-2130)gtfs p.V710fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 710 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 GATTTGGAGGTTTTTTTGTCT 0.299 7 1756 --- --- --- --- SEPT10 151011 broad.mit.edu 37 2 110301827 110301828 + Frame_Shift_Ins INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:110301827_110301828insT ENST00000356688.4 - 12 1821_1822 c.1506_1507insA c.(1504-1509)aatagafs p.NR502fs SEPT10_ENST00000437928.1_3'UTR|SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000397714.2_3'UTR Q9P0V9 SEP10_HUMAN septin 10 0 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 CACACTTCTAGTTTTTTTTTAA 0.317 8 303 --- --- --- --- ACVR2A 92 broad.mit.edu 37 2 148657040 148657041 + Frame_Shift_Ins INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:148657040_148657041insA ENST00000241416.7 + 3 913_914 c.277_278insA c.(277-279)aaafs p.K93fs ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.K93fs NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 93 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TGATTGTGTAGAAAAAAAAGAC 0.302 8 754 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 16 486 --- --- --- --- COL5A2 1290 broad.mit.edu 37 2 189943835 189943836 + Splice_Site INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:189943835_189943836insA ENST00000374866.3 - 15 1235 c.e15-2 NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) AGCTTCACCCTAAAAAAAAATG 0.381 16 503 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - rs140194798 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:196788374delT ENST00000312428.6 - 23 3870 c.3770delA c.(3769-3771)atfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCGCTAATATTTTTTTTTAC 0.418 9 435 --- --- --- --- SLC11A1 6556 broad.mit.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:219252307delT ENST00000233202.6 + 7 931 c.591delT c.(589-591)gcfs p.A197fs SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 197 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGAAGCTTTTTTTGGAC 0.448 14 3083 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 7 658 --- --- --- --- USP40 55230 broad.mit.edu 37 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:234394236_234394237insT ENST00000251722.6 - 30 3558_3559 c.3441_3442insA c.(3439-3444)aaaagafs p.R1148fs USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 1148 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) AAATAATCTTGTTTTTTTTTCT 0.337 8 215 --- --- --- --- AC034193.5 0 broad.mit.edu 37 3 10035779 10035783 + RNA DEL AGTCT AGTCT - rs35714562 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr3:10035779_10035783delAGTCT ENST00000326237.3 + 0 354 GGGGAAGAGAAGTCTGATCTGACAT 0.380 18 251 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679486 42679486 + Frame_Shift_Del DEL A A - rs150528581 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr3:42679486delA ENST00000232978.8 + 13 2478 c.2290delA c.(2290-2292)aafs p.K765fs RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 765 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) ATCCAGTGGGAAAAAAAATAG 0.378 9 545 --- --- --- --- CCR3 1232 broad.mit.edu 37 3 46306948 46306948 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr3:46306948delT ENST00000357422.2 + 4 842 c.299delT c.(298-300)gtfs p.V100fs CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 100 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CATAACTGGGTTTTTGGCCAT 0.488 8 1386 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 9 1404 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 11 284 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 10 222 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123368043 123368044 + Splice_Site INS - - G rs138786404 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr3:123368043_123368044insG ENST00000360772.3 - 26 4667 c.e26-2 MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site Q15746 MYLK_HUMAN myosin light chain kinase aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTTCGGCTCTGGGGGGGGCAC 0.624 8 537 --- --- --- --- CTD-2049J23.2 0 broad.mit.edu 37 3 159819452 159819453 + RNA DEL AG AG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr3:159819452_159819453delAG ENST00000497452.1 - 0 517 GGCTGCTGGCAGAGAGAGAGGA 0.465 7 1396 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 10 139 --- --- --- --- RNF168 165918 broad.mit.edu 37 3 196214338 196214338 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr3:196214338delT ENST00000318037.3 - 3 1084 c.490delA c.(490-492)ggfs p.R166fs NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 166 Glu-rich. double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) GCTCTTCGCCTTTTTTCTGCC 0.448 7 2061 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 10 1315 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 7 577 --- --- --- --- SLC34A2 10568 broad.mit.edu 37 4 25678148 25678150 + In_Frame_Del DEL GCT GCT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:25678148_25678150delGCT ENST00000382051.3 + 13 1900_1902 c.1850_1852delGCT c.(1849-1854)cgc>c p.RC617del SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 617 Cys-rich. cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TTCCAGATGCgctgctgctgctg 0.640 T ROS1 NSCLC 8 429 --- --- --- --- UGDH 7358 broad.mit.edu 37 4 39515752 39515753 + Frame_Shift_Ins INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:39515752_39515753insA ENST00000316423.6 - 3 556_557 c.214_215insT c.(214-216)tacfs p.Y72fs UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 72 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity p.S72fs*18(1) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) AATATTGGTAGAAAAAAAAAGA 0.297 9 594 --- --- --- --- N4BP2 55728 broad.mit.edu 37 4 40144449 40144449 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:40144449delA ENST00000261435.6 + 15 5358 c.4942delA c.(4942-4944)aafs p.K1649fs NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 1649 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TCGGATAGGGAAAAAAAATGT 0.398 11 602 --- --- --- --- GUF1 60558 broad.mit.edu 37 4 44700614 44700615 + Frame_Shift_Ins INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:44700614_44700615insA ENST00000281543.5 + 17 2120_2121 c.1926_1927insA c.(1924-1929)ggaaaafs p.GK642fs GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 642 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 AAGCAGAAGGGAAAAAAAAGCT 0.327 7 486 --- --- --- --- C4orf26 152816 broad.mit.edu 37 4 76489475 76489475 + Frame_Shift_Del DEL T T - rs76243433 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:76489475delT ENST00000311623.4 + 2 254 c.219delT c.(217-219)cafs p.H73fs C4orf26_ENST00000435974.2_Frame_Shift_Del_p.I88fs NM_001257072.1|NM_178497.3 NP_001244001.1|NP_848592.2 Q17RF5 CD026_HUMAN chromosome 4 open reading frame 26 73 extracellular region kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GTCCCTTCCATTTTTTTCCAC 0.522 7 817 --- --- --- --- BMP2K 55589 broad.mit.edu 37 4 79792161 79792169 + In_Frame_Del DEL CAGCACCAC CAGCACCAC - rs2114202 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:79792161_79792169delCAGCACCAC ENST00000335016.5 + 11 1622_1630 c.1456_1464delCAGCACCAC c.(1456-1464)del p.QHH486del BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 486 Gln/His-rich. Q -> H (in dbSNP:rs2114202). Missing (in Ref. 2; CAB70863). nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 gcagcagcagcagcaccaccaccaccacc 0.488 10 413 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 465 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83785675 83785677 + In_Frame_Del DEL TGC TGC - rs140634448 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:83785675_83785677delTGC ENST00000432794.1 - 11 1435_1437 c.1272_1274delGCA c.(1270-1275)cac>ca p.QH424del SEC31A_ENST00000505984.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000508479.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000505472.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000500777.2_In_Frame_Del_p.QH424del|SEC31A_ENST00000448323.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000443462.2_In_Frame_Del_p.QH419del|SEC31A_ENST00000395310.2_In_Frame_Del_p.QH424del|SEC31A_ENST00000355196.2_In_Frame_Del_p.QH424del|SEC31A_ENST00000326950.5_In_Frame_Del_p.QH424del|SEC31A_ENST00000311785.7_In_Frame_Del_p.QH424del|SEC31A_ENST00000264405.5_In_Frame_Del_p.QH196del|SEC31A_ENST00000348405.4_In_Frame_Del_p.QH424del|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000513858.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000509142.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000508502.1_In_Frame_Del_p.QH424del O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 424 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GAACACATGGTGCTGCTGCTGCT 0.448 8 444 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:88986559delA ENST00000237596.2 + 11 2218 c.2152delA c.(2152-2154)aafs p.K719fs PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 719 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACTAAAACTGAAAAAAAATAC 0.383 11 833 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 10 906 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 12 452 --- --- --- --- TENM3 55714 broad.mit.edu 37 4 183609359 183609359 + Frame_Shift_Del DEL G G - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:183609359delG ENST00000511685.1 + 12 2199 c.2076delG c.(2074-2076)atfs p.M692fs TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs teneurin transmembrane protein 3 GCGTTTGCATGGGGGGGACGT 0.592 10 1249 --- --- --- --- CYP4V2 285440 broad.mit.edu 37 4 187130100 187130100 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr4:187130100delT ENST00000378802.4 + 9 1476 c.1172delT c.(1171-1173)ctfs p.L391fs CYP4V2_ENST00000502665.1_3'UTR NM_207352.3 NP_997235.3 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily V, polypeptide 2 391 response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) ACCCTTCGCCTTTTTCCTTCT 0.423 7 816 --- --- --- --- IRX4 50805 broad.mit.edu 37 5 1879669 1879671 + In_Frame_Del DEL CCT CCT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr5:1879669_1879671delCCT ENST00000505790.1 - 5 1139_1141 c.683_685delAGG c.(682-687)ggg>g p.EG228del IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 228 Poly-Glu. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) tcctcgcccccctcctcctcctc 0.685 7 326 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 9 292 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 11 1710 --- --- --- --- CDO1 1036 broad.mit.edu 37 5 115148957 115148958 + Splice_Site INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr5:115148957_115148958insA ENST00000250535.4 - 2 727 c.e2-2 CDO1_ENST00000502631.1_Splice_Site NM_001801.2 NP_001792.2 Q16878 CDO1_HUMAN cysteine dioxygenase type 1 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) CGGGTATACCTAAAAAAAAACA 0.332 8 414 --- --- --- --- SRFBP1 153443 broad.mit.edu 37 5 121356129 121356130 + Frame_Shift_Ins INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr5:121356129_121356130insA ENST00000339397.4 + 6 771_772 c.699_700insA c.(697-702)acaaaafs p.TK233fs NM_152546.2 NP_689759.2 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TAAGTCAAACCAAAAAAAACAA 0.401 9 745 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 19 1298 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr5:140032593_140032594delGA ENST00000417647.2 + 5 407_408 c.268_269delGA c.(268-270)gfs p.E90fs IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.460 8 328 --- --- --- --- TCERG1 10915 broad.mit.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr5:145886723delA ENST00000296702.5 + 19 2901 c.2863delA c.(2863-2865)aafs p.K957fs TCERG1_ENST00000394421.2_Frame_Shift_Del_p.K936fs NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 957 FF 5. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCACTTACCAAAAAAAAGAG 0.373 8 756 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29761693 29761693 + RNA DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:29761693delA ENST00000457107.1 + 0 919 aagagcccagaaccctcagga 0.512 10 119 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cca>cc p.PP720del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCTCGGAATggaggaggaggag 0.670 7 430 --- --- --- --- CFB 629 broad.mit.edu 37 6 31895549 31895549 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:31895549delT ENST00000556679.1 + 1 75 c.20delT c.(19-21)ctfs p.L7fs CFB_ENST00000477310.1_Frame_Shift_Del_p.L7fs|C2_ENST00000442278.2_Frame_Shift_Del_p.L7fs|C2_ENST00000418949.2_Frame_Shift_Del_p.L7fs|C2_ENST00000299367.5_Frame_Shift_Del_p.L7fs|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Frame_Shift_Del_p.L7fs|C2_ENST00000469372.1_Intron P00751 CFAB_HUMAN complement factor B 0 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CTGATGGTTCTTTTTTGCCTG 0.582 7 2486 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31975223 31975224 + RNA INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:31975223_31975224insT ENST00000342991.6 + 0 1346_1347 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTGGGCCGTGGTTTTTTTTGCT 0.614 8 1166 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:36867371delC ENST00000480824.2 + 3 445 c.151delC c.(151-153)ccfs p.P53fs C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000510325.2_5'UTR Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 53 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTCAGAGACCCCCCCCGCA 0.428 8 536 --- --- --- --- AARS2 57505 broad.mit.edu 37 6 44269188 44269189 + Frame_Shift_Ins INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:44269188_44269189insT ENST00000244571.4 - 20 2613_2614 c.2611_2612insA c.(2611-2613)tcafs p.S871fs TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 871 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CAGCTCCTGAGTTTTCTTTGCA 0.584 8 878 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 9 1380 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64394097 64394097 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:64394097delA ENST00000262043.3 + 4 814 c.474delA c.(472-474)acfs p.T158fs PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs Q92576 PHF3_HUMAN PHD finger protein 3 158 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TAAGTAACACAAAAAAAGCAT 0.383 9 1405 --- --- --- --- ZUFSP 221302 broad.mit.edu 37 6 116967057 116967058 + Frame_Shift_Ins INS - - T rs141299898 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:116967057_116967058insT ENST00000368576.3 - 9 1751_1752 c.1508_1509insA c.(1507-1509)acgfs p.T503fs NM_145062.2 NP_659499.2 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 503 intracellular zinc ion binding NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) ATAATGTTCGGTTTTTTTTCTC 0.337 10 510 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs p.K512fs SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 512 integral to membrane CTGTTGAGCCTTTTTTTCAGA 0.294 7 503 --- --- --- --- SASH1 23328 broad.mit.edu 37 6 148664242 148664243 + In_Frame_Ins INS - - GAGCCC rs76317765 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:148664242_148664243insGAGCCC ENST00000367467.3 + 1 514_515 c.39_40insGAGCCC c.(37-42)ccagcc>ccGAGCCCagcc p.12_13insPS SASH1_ENST00000367469.1_Intron NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 12 Pro-rich. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) ggccggagcctgagcccgagcc 0.792 30 26 --- --- --- --- GLCCI1 113263 broad.mit.edu 37 7 8126097 8126099 + In_Frame_Del DEL CAG CAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:8126097_8126099delCAG ENST00000223145.5 + 8 2130_2132 c.1573_1575delCAG c.(1573-1575)del p.Q528del NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 528 Poly-Gln. endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GCAGCCATCCCAGCAGCAGCAGC 0.562 7 2172 --- --- --- --- ZNF733P 0 broad.mit.edu 37 7 62752415 62752416 + RNA INS - - C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:62752415_62752416insC ENST00000331425.6 - 0 1019_1020 NR_003952.1 GCATAGGGTTTTCTCTAGTATG 0.421 11 246 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 9 93 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150817 + RNA INS - - C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:65150816_65150817insC ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCCC 0.465 8 21 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72159821 72159821 + RNA DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:72159821delT ENST00000438125.1 - 0 984 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity TCCTTAGTAATTTTTTTTTTT 0.388 21 394 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:72664015_72664016insG ENST00000425256.1 - 0 884_885 NR_002164.1 ATACCACCCCCGGGGCATGCCA 0.505 8 89 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 12 2517 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 9 412 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028823 100028825 + In_Frame_Del DEL CCA CCA - rs71555278 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:100028823_100028825delCCA ENST00000310512.2 + 1 1570_1572 c.1182_1184delCCA c.(1180-1185)cgc>cg p.RH394del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 394 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGGCCGCCACCACCACCAC 0.581 7 563 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332873 123332875 + In_Frame_Del DEL GGA GGA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:123332873_123332875delGGA ENST00000223023.4 - 9 1205_1207 c.873_875delTCC c.(871-876)ccc>cc p.PP293del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 293 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 gtgtggagggggaggaggaggag 0.567 7 650 --- --- --- --- C7orf55-LUC7L2 0 broad.mit.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:139094365_139094366delAG ENST00000354926.4 + 7 1098_1099 c.744_745delAG c.(742-747)gaagfs p.EE248fs LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs NM_016019.3 NP_057103.2 AACGAAGAGAAGAGAGAGAGAG 0.391 7 173 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099832 142099833 + RNA DEL CA CA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:142099832_142099833delCA ENST00000390359.3 - 0 88 accactctctcacacacacaca 0.455 9 475 --- --- --- --- TRBV7-7 0 broad.mit.edu 37 7 142120214 142120215 + RNA DEL AC AC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:142120214_142120215delAC ENST00000390377.1 - 0 49 acacatgcatacacacacacac 0.436 9 533 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 14 127 --- --- --- --- CDK5 1020 broad.mit.edu 37 7 150754217 150754217 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:150754217delT ENST00000485972.1 - 2 749 c.68delA c.(67-69)acfs p.N23fs CDK5_ENST00000297518.4_Frame_Shift_Del_p.N23fs NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 23 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) AGTCTCCCGGTTTTTGGCCTT 0.582 7 1339 --- --- --- --- ANGPT2 285 broad.mit.edu 37 8 6378797 6378798 + Frame_Shift_Ins INS - - T rs34047276 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:6378797_6378798insT ENST00000325203.5 - 4 1174_1175 c.700_701insA c.(700-702)agtfs p.S234fs ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs|ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs O15123 ANGP2_HUMAN angiopoietin 2 234 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GGCAGTCACTATTTTTTTTTCT 0.366 12 591 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 9 288 --- --- --- --- PSD3 23362 broad.mit.edu 37 8 18729796 18729796 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:18729796delT ENST00000440756.2 - 3 680 c.578delA c.(577-579)atfs p.N193fs PSD3_ENST00000523619.1_Frame_Shift_Del_p.N128fs|PSD3_ENST00000327040.8_Frame_Shift_Del_p.N193fs Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 193 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TTCTGGTAAATTTTTTTGGCC 0.438 9 1021 --- --- --- --- NPM2 10361 broad.mit.edu 37 8 21892020 21892021 + Splice_Site INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:21892020_21892021insA ENST00000397940.1 + 7 1546_1547 c.e7-1 NPM2_ENST00000289820.6_Splice_Site|NPM2_ENST00000521157.1_Splice_Site|NPM2_ENST00000518119.1_Splice_Site|NPM2_ENST00000381530.5_Splice_Site Q86SE8 NPM2_HUMAN nucleophosmin/nucleoplasmin 2 chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization cytoplasmic chromatin|nuclear chromatin histone binding|nucleic acid binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) TTGGTTCCCAGAAAAAAAAGCT 0.406 8 1026 --- --- --- --- NEFL 4747 broad.mit.edu 37 8 24810424 24810426 + RNA DEL CTT CTT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:24810424_24810426delCTT ENST00000221169.5 - 0 2124_2126 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) ccttcacctccttcttcttcttc 0.414 7 363 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27634576 27634577 + Frame_Shift_Ins INS - - A rs80359854 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:27634576_27634577insA ENST00000305188.8 + 3 989_990 c.751_752insA c.(751-753)aaafs p.K251fs ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 251 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GACTGTCAGTGAAAAAAAAACT 0.396 SC Phocomelia syndrome 8 454 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 11 511 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 9 2255 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 12 936 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74507471 74507471 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:74507471delT ENST00000355780.5 - 10 1213 c.995delA c.(994-996)atfs p.N332fs STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 364 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding p.N332fs*67(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTCTGCAGCATTTTTTTTGGC 0.328 8 466 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 101076229 101076229 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:101076229delT ENST00000360863.6 - 8 961 c.767delA c.(766-768)agfs p.K256fs RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 256 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGATGGGTCCTTTTTTGTCCT 0.328 8 1820 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 254 CSDE1-binding.|RRM 3. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CATTGAGCTCCTTTCCGTTCAT 0.371 14 492 --- --- --- --- RANBP6 26953 broad.mit.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr9:6012690delT ENST00000259569.5 - 1 2928 c.2918delA c.(2917-2919)atfs p.N973fs NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 973 protein transport cytoplasm|nucleus binding p.N973fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AGCAATGACATTTTTTTTGGT 0.358 7 475 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)agfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 9 754 --- --- --- --- VCP 7415 broad.mit.edu 37 9 35062983 35062985 + In_Frame_Del DEL AAG AAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr9:35062983_35062985delAAG ENST00000358901.6 - 7 1696_1698 c.801_803delCTT c.(799-804)ttg>tt p.FL267del NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 267 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ACCATTGATCAAGAAGAAGAAGG 0.463 8 1053 --- --- --- --- FAM74A3 0 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 13 90 --- --- --- --- ANKRD19P 0 broad.mit.edu 37 9 95599088 95599089 + RNA DEL CA CA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr9:95599088_95599089delCA ENST00000473204.1 + 0 1169_1170 TTCACGGGCGCACACACACACA 0.421 7 337 --- --- --- --- CRAT 1384 broad.mit.edu 37 9 131864814 131864814 + Frame_Shift_Del DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr9:131864814delC ENST00000318080.2 - 5 789 c.495delG c.(493-495)ggfs p.G165fs CRAT_ENST00000464290.1_5'UTR NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 165 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) ACAGTGGCTTCCCCCCCAGGT 0.607 7 1969 --- --- --- --- TTF1 7270 broad.mit.edu 37 9 135277388 135277388 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr9:135277388delT ENST00000334270.2 - 2 860 c.821delA c.(820-822)agfs p.K274fs NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 274 Poly-Lys. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TTTCTTAGACTTTTTTTTGTG 0.473 7 702 --- --- --- --- TSC1 0 broad.mit.edu 37 9 135771988 135771990 + In_Frame_Del DEL GCT GCT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr9:135771988_135771990delGCT ENST00000298552.3 - 23 3348_3350 c.3127_3129delAGC c.(3127-3129)del p.S1043del TSC1_ENST00000545250.1_In_Frame_Del_p.S992del|TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 1043 Poly-Ser. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.S1043N(1)|p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TAGAAAGCTCgctgctgctgctg 0.640 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 8 289 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr9:140087025_140087027delTCC ENST00000409012.4 - 2 1928_1930 c.1842_1844delGGA c.(1840-1845)gaa>ga p.EE620del TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 620 Glu-rich. sensory perception of sound stereocilium p.E315delE(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 ctcttcctcttcctcctcctcct 0.596 7 137 --- --- --- --- FAM171A1 221061 broad.mit.edu 37 10 15254987 15254989 + In_Frame_Del DEL TCA TCA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr10:15254987_15254989delTCA ENST00000378116.4 - 8 2604_2606 c.2598_2600delTGA c.(2596-2601)gac>ga p.DD866del NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 866 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TTCTCCTTGGTCATCATCATCAT 0.571 8 1367 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 9 423 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50678321 50678321 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr10:50678321delT ENST00000355832.5 - 18 3763 c.3685delA c.(3685-3687)ggfs p.R1230fs ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Frame_Shift_Del_p.R600fs NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1230 R -> P (in dbSNP:rs4253211). base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGGTAACGCCTTTTCTTCACC 0.428 Direct reversal of damage;Nucleotide excision repair (NER) 9 2584 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50732139 50732141 + In_Frame_Del DEL CCT CCT - rs4253047 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr10:50732139_50732141delCCT ENST00000355832.5 - 5 1413_1415 c.1335_1337delAGG c.(1333-1338)ggt>gg p.GG445del ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 445 Gly-rich. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CACTTTCCGACCTCCTCCTCCTC 0.458 Direct reversal of damage;Nucleotide excision repair (NER) 9 682 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88753099 88753100 + RNA INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr10:88753099_88753100insT ENST00000444431.1 + 0 64 RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AATGAGTTTACTTTTTTTTTTA 0.307 24 300 --- --- --- --- TNKS2 80351 broad.mit.edu 37 10 93601945 93601946 + Frame_Shift_Ins INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr10:93601945_93601946insA ENST00000371627.4 + 16 2235_2236 c.1856_1857insA c.(1855-1857)aaafs p.K619fs NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 619 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding p.N622fs*29(1) biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) GCAGACCCTACAAAAAAAAACA 0.391 12 342 --- --- --- --- HELLS 3070 broad.mit.edu 37 10 96331163 96331163 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr10:96331163delA ENST00000348459.5 + 7 559 c.454delA c.(454-456)aafs p.K153fs HELLS_ENST00000394045.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394044.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394036.1_Stop_Codon_Del|HELLS_ENST00000371332.4_Frame_Shift_Del_p.K153fs|HELLS_ENST00000239026.6_3'UTR NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 153 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) GTCTGTGGCTAAAAAAAATAA 0.254 7 212 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 22 1020 --- --- --- --- WBP1L 54838 broad.mit.edu 37 10 104569669 104569671 + In_Frame_Del DEL CAT CAT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr10:104569669_104569671delCAT ENST00000369889.4 + 3 292_294 c.150_152delCAT c.(148-153)acc>ac p.TI50del WBP1L_ENST00000448841.1_In_Frame_Del_p.TI71del NM_017787.4 NP_060257.4 Q9NX94 OPA1L_HUMAN WW domain binding protein 1-like 50 integral to membrane TGGTGTGGACCATCATCATCATC 0.606 10 1347 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125530495 125530495 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr10:125530495delT ENST00000241305.3 - 8 1193 c.1039delA c.(1039-1041)gcfs p.S347fs CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 347 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CCCTGGTGGCTTTTTCCAATG 0.458 10 2576 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 11 715 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 7 337 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 8 314 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000534229.1_3'UTR NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 9 725 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 9 1342 --- --- --- --- FAM111B 374393 broad.mit.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:58892377delA ENST00000343597.3 + 4 998 c.807delA c.(805-807)tcfs p.S269fs FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 269 catalytic activity p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TGGACATTTCAAAAAAAAAAG 0.313 17 350 --- --- --- --- FADS2 9415 broad.mit.edu 37 11 61607885 61607887 + In_Frame_Del DEL TCC TCC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:61607885_61607887delTCC ENST00000278840.4 + 3 1028_1030 c.398_400delTCC c.(397-402)ttc>t p.FL133del FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del|FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 133 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CACGTGTTCTTCCTCCTCCTCCT 0.537 8 1090 --- --- --- --- INPPL1 3636 broad.mit.edu 37 11 71948209 71948209 + Frame_Shift_Del DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:71948209delC ENST00000541756.1 + 26 3125 c.2195delC c.(2194-2196)gcfs p.A732fs INPPL1_ENST00000538751.1_Frame_Shift_Del_p.A732fs|INPPL1_ENST00000298229.2_Frame_Shift_Del_p.A974fs O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 974 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding p.P977fs*7(1) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GGGGTGGCGGCCCCCCCACCC 0.637 7 958 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 14 243 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 17 714 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407177 89407177 + RNA DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:89407177delC ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTTTTTTTTCCCCAATCTGG 0.303 8 226 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 9 51 --- --- --- --- C1QTNF5 114902 broad.mit.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:119210189_119210190insC ENST00000445041.2 - 15 3378_3379 c.583_584insG c.(583-585)catfs p.H195fs MFRP_ENST00000530681.1_3'UTR|MFRP_ENST00000555262.1_3'UTR|C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|C1QTNF5_ENST00000525657.1_5'UTR NM_001278431.1|NM_015645.3|NM_031433.2 NP_001265360.1|NP_056460.1|NP_113621.1 Q9BY79 MFRP_HUMAN C1q and tumor necrosis factor related protein 5 147 CUB 1. embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CCTCACCATGGCCCCCCCCGAG 0.589 11 506 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 8 238 --- --- --- --- NFRKB 4798 broad.mit.edu 37 11 129752495 129752496 + Frame_Shift_Ins INS - - T rs149369172 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:129752495_129752496insT ENST00000446488.3 - 9 1035_1036 c.932_933insA c.(931-933)agtfs p.S311fs NFRKB_ENST00000524746.1_Frame_Shift_Ins_p.S311fs|NFRKB_ENST00000524794.1_Frame_Shift_Ins_p.S336fs|NFRKB_ENST00000304521.5_Frame_Shift_Ins_p.S311fs NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 311 Lys-rich. DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TTTCCTTAACCTTTTTTTTAAG 0.441 8 631 --- --- --- --- NTF3 4908 broad.mit.edu 37 12 5603608 5603609 + Frame_Shift_Ins INS - - C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:5603608_5603609insC ENST00000423158.3 + 2 479_480 c.267_268insC c.(265-270)ggccgcfs p.R90fs NTF3_ENST00000331010.6_Frame_Shift_Ins_p.R77fs|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 77 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 AGCGGGGAGGGCCCGCCAAGTC 0.579 33 618 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 14 99 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 13 891 --- --- --- --- PCBP2 5094 broad.mit.edu 37 12 53856278 53856278 + Frame_Shift_Del DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:53856278delC ENST00000603815.1 + 8 868 c.518delC c.(517-519)tcfs p.S173fs PCBP2_ENST00000447282.1_Frame_Shift_Del_p.S173fs|PCBP2_ENST00000439930.3_Frame_Shift_Del_p.S173fs|PCBP2_ENST00000549863.1_Frame_Shift_Del_p.S173fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.S169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.S169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Del_p.S173fs|PCBP2_ENST00000548933.1_Frame_Shift_Del_p.S173fs|PCBP2_ENST00000359282.5_Splice_Site_p.S169_splice|PCBP2_ENST00000541275.1_Splice_Site_p.S169_splice|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000359462.5_Frame_Shift_Del_p.S173fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169_splice NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 173 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 CTCTCCCAGTCCCCCCCGAAG 0.498 7 440 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 8 859 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794610 55794610 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:55794610delT ENST00000379665.2 + 1 397 c.298delT c.(298-300)ttfs p.F101fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L102fs*1(1) cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 GGCCCAAGTATTTTTTTTAAT 0.358 8 813 --- --- --- --- UHRF1BP1L 23074 broad.mit.edu 37 12 100451840 100451840 + Frame_Shift_Del DEL G G - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:100451840delG ENST00000279907.7 - 14 3427 c.3215delC c.(3214-3216)cafs p.P1072fs UHRF1BP1L_ENST00000545232.2_Frame_Shift_Del_p.P722fs NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 1072 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TGTTCTAACTGGGGGGGTCTC 0.373 7 954 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120595737 120595739 + In_Frame_Del DEL CTC CTC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:120595737_120595739delCTC ENST00000300648.6 - 26 3013_3015 c.3001_3003delGAG c.(3001-3003)del p.E1001del NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1001 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCCATCCACTCCTCCTCCTCC 0.631 8 394 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 19 1421 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 8 1398 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 335 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 8 641 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27250862 27250863 + Splice_Site DEL GT GT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr13:27250862_27250863delGT ENST00000335327.5 + 7 894 c.e7+1 WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGATACTAGGTGTGTGTGTGT 0.475 10 433 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 18 1569 --- --- --- --- INTS6 26512 broad.mit.edu 37 13 51948408 51948408 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr13:51948408delT ENST00000311234.4 - 15 2512 c.2040delA c.(2038-2040)aafs p.K680fs INTS6_ENST00000398119.2_Frame_Shift_Del_p.K667fs|INTS6_ENST00000425000.1_Frame_Shift_Del_p.K248fs|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000490542.1_Frame_Shift_Del_p.K364fs|INTS6_ENST00000497989.1_Frame_Shift_Del_p.K502fs NM_012141.2 NP_036273.1 Q9UL03 INT6_HUMAN integrator complex subunit 6 680 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) CAGGTGGTCCTTTTCCCCCAA 0.398 7 1594 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518338 108518338 + Frame_Shift_Del DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr13:108518338delC ENST00000375915.2 - 1 745 c.607delG c.(607-609)acfs p.D203fs NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 203 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TCCTGCCCGTCCCCCCCGGCC 0.607 9 997 --- --- --- --- SALL2 6297 broad.mit.edu 37 14 21993077 21993079 + In_Frame_Del DEL GAG GAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr14:21993077_21993079delGAG ENST00000327430.3 - 2 1077_1079 c.783_785delCTC c.(781-786)tct>tc p.SS263del SALL2_ENST00000450879.2_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 263 Poly-Ser. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) Tgaagaggaagaggaggaggagg 0.591 7 271 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 15 869 --- --- --- --- MYH6 4624 broad.mit.edu 37 14 23851266 23851266 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr14:23851266delT ENST00000405093.3 - 39 5873 c.5803delA c.(5803-5805)tgfs p.M1935fs MYH6_ENST00000356287.3_Frame_Shift_Del_p.M1935fs NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1935 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCATCGTGCATTTTTTGCTGC 0.522 7 1136 --- --- --- --- RP11-407N17.3 0 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR TTGCTGTTCTCTTTTTTTTGTG 0.371 10 536 --- --- --- --- PRKCH 5583 broad.mit.edu 37 14 62014535 62014535 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr14:62014535delT ENST00000332981.5 + 13 2221 c.1836delT c.(1834-1836)ccfs p.P612fs PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Frame_Shift_Del_p.P451fs|RP11-47I22.4_ENST00000556347.1_Frame_Shift_Del_p.L117fs NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 612 Protein kinase. P -> S (in dbSNP:rs34159231). intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) TGAGACATCCTTTTTTTAAGG 0.522 9 2117 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 20 247 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 9 203 --- --- --- --- EML1 2009 broad.mit.edu 37 14 100367334 100367334 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr14:100367334delT ENST00000262233.6 + 9 1105 c.966delT c.(964-966)ggfs p.G322fs EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs|EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 322 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TTGGAATAGGTTTTTTTGACC 0.428 7 786 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25310192 25310193 + RNA INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:25310192_25310193insA ENST00000549804.2 + 0 538 SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA ATGAGTCCTCCAAAAAAAACAT 0.475 11 849 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25337049 25337050 + RNA DEL GA GA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:25337049_25337050delGA ENST00000546682.1 + 0 969 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 ACTGGAGCTGGAGAGAGAGAGA 0.500 7 578 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25456925 25456925 + RNA DEL G G - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:25456925delG ENST00000424208.1 + 0 2516 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA NR_003305.1 TGTGTGGGCAGGGGGGGTGCC 0.557 10 1345 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25481201 25481201 + RNA DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:25481201delT ENST00000453082.2 + 0 1934 NR_003343.1 CCACTGGAAGTTTTTTTTGCG 0.512 18 1190 --- --- --- --- C15orf52 388115 broad.mit.edu 37 15 40631782 40631782 + Frame_Shift_Del DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:40631782delC ENST00000559313.1 - 3 309 c.294delG c.(292-294)ggfs p.G98fs NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 98 p.M99fs*3(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) TCACAGCCATCCCCCCCTGCT 0.647 8 661 --- --- --- --- RMDN3 55177 broad.mit.edu 37 15 41029893 41029894 + Frame_Shift_Ins INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:41029893_41029894insT ENST00000260385.6 - 9 2223_2224 c.1156_1157insA c.(1156-1158)tgcfs p.C386fs RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs|RMDN3_ENST00000558560.1_5'UTR regulator of microtubule dynamics 3 GGCTGTAGCAGTTTTTTTTTCT 0.450 9 557 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 13 583 --- --- --- --- FAM214A 56204 broad.mit.edu 37 15 52901069 52901069 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:52901069delT ENST00000261844.7 - 6 2194 c.2042delA c.(2041-2043)atfs p.N681fs FAM214A_ENST00000546305.2_Frame_Shift_Del_p.N688fs NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 681 TTTTGAGTCATTTTTTTTGGA 0.284 8 356 --- --- --- --- CCPG1 9236 broad.mit.edu 37 15 55651780 55651781 + Frame_Shift_Del DEL TA TA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:55651780_55651781delTA ENST00000310958.6 - 8 2488_2489 c.2190_2191delTA c.(2188-2193)tagafs p.YR730fs CCPG1_ENST00000425574.3_Frame_Shift_Del_p.YR347fs|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Frame_Shift_Del_p.YR730fs|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.YR730fs NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 730 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) AAGAAGTGTCTATATATATATT 0.332 8 317 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64967246 64967247 + Frame_Shift_Ins INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:64967246_64967247insA ENST00000326648.3 + 4 2321_2322 c.2193_2194insA c.(2191-2196)gaaaaafs p.EK731fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 731 Poly-Lys. nucleus zinc ion binding p.K734fs*12(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAAAGAAAGACAAAAAAAAGAA 0.490 10 1376 --- --- --- --- SPG21 51324 broad.mit.edu 37 15 65262526 65262526 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:65262526delT ENST00000559199.1 - 4 1025 c.25delA c.(25-27)tafs p.I9fs SPG21_ENST00000433215.2_Frame_Shift_Del_p.I163fs|SPG21_ENST00000204566.2_Frame_Shift_Del_p.I163fs|SPG21_ENST00000416889.2_Frame_Shift_Del_p.I136fs Q9NZD8 SPG21_HUMAN spastic paraplegia 21 (autosomal recessive, Mast syndrome) 163 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 CCAAGAACTATTTTTTTGAGC 0.398 7 1660 --- --- --- --- IGDCC3 9543 broad.mit.edu 37 15 65621765 65621765 + Frame_Shift_Del DEL G G - rs145360224 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:65621765delG ENST00000327987.4 - 13 2419 c.2168delC c.(2167-2169)cgfs p.P723fs NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 723 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGCGCTGGCCGGGGGGAACAG 0.632 7 1332 --- --- --- --- IL16 3603 broad.mit.edu 37 15 81592162 81592164 + In_Frame_Del DEL CCT CCT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:81592162_81592164delCCT ENST00000394660.2 + 14 2855_2857 c.2495_2497delCCT c.(2494-2499)gcc>g p.AS832del IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_In_Frame_Del_p.AS131del|IL16_ENST00000302987.4_In_Frame_Del_p.AS832del NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 832 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity p.S792delS(1)|p.S838delS(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CACATCCGGGcctcctcctcctc 0.586 8 333 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 10 118 --- --- --- --- VPS33B 26276 broad.mit.edu 37 15 91550236 91550238 + In_Frame_Del DEL TCC TCC - rs147271815 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:91550236_91550238delTCC ENST00000333371.3 - 9 995_997 c.642_644delGGA c.(640-645)gat>ga p.ED214del VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 214 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GGTTTCGCCATCCTCCTCCTCCT 0.522 7 816 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 8 197 --- --- --- --- RAB40C 57799 broad.mit.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:677579_677580insC ENST00000535977.1 + 7 1025_1026 c.803_804insC c.(802-804)accfs p.T268fs RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 268 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.Q271fs*7(1) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CCACCCCAGAGCCCCCCCCAGA 0.678 11 545 --- --- --- --- BRICD5 283870 broad.mit.edu 37 16 2260586 2260588 + In_Frame_Del DEL CAG CAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:2260586_2260588delCAG ENST00000328540.3 - 2 1231_1233 c.115_117delCTG c.(115-117)del p.L39del BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGGCcagcaccagcagcagcagc 0.660 9 251 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 79 1620 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313074 5313076 + RNA DEL GGT GGT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:5313074_5313076delGGT ENST00000569895.1 + 0 304 GCAGggtgacggtggtggtggtg 0.483 10 438 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:20370700_20370702delCCA ENST00000302451.4 - 12 1942_1944 c.1694_1696delTGG c.(1693-1698)gct>g p.VA565del NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 565 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTGGCTTAGCCACCACCACCAC 0.478 12 1404 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:24807240delA ENST00000395799.3 + 9 3670 c.3541delA c.(3541-3543)aafs p.K1182fs TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1182 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.398 11 1351 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 13 152 --- --- --- --- BCL7C 9274 broad.mit.edu 37 16 30899223 30899223 + Frame_Shift_Del DEL G G - rs150838242 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:30899223delG ENST00000215115.4 - 6 1632 c.617delC c.(616-618)cafs p.P206fs AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000570025.1_RNA|BCL7C_ENST00000380317.4_Intron NM_004765.2 NP_004756.2 Q8WUZ0 BCL7C_HUMAN B-cell CLL/lymphoma 7C 206 Pro-rich. apoptosis large_intestine(1)|lung(3)|prostate(1)|skin(1) 6 Colorectal(24;0.198) GCGCTTGAGTGGGGGGGCACC 0.622 7 1397 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 9 602 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 8 862 --- --- --- --- CTRL 1506 broad.mit.edu 37 16 67963919 67963919 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:67963919delT ENST00000574481.1 - 7 1274 c.713delA c.(712-714)acfs p.N238fs NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 238 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CACATTGCAGTTTTTGGTGCC 0.552 11 761 --- --- --- --- ZFP90 146198 broad.mit.edu 37 16 68598462 68598463 + Frame_Shift_Ins INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:68598462_68598463insA ENST00000570495.1 + 5 2064_2065 c.1772_1773insA c.(1771-1773)caafs p.Q591fs ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 591 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGAGCCTTCCGAAAAAAAACCA 0.411 9 1395 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 71220808 71220808 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:71220808delT ENST00000538248.1 - 2 106 c.72delA c.(70-72)aafs p.K24fs HYDIN_ENST00000448691.1_5'UTR|HYDIN_ENST00000393550.2_5'UTR|HYDIN_ENST00000288168.10_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000448089.2_5'UTR|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000393567.2_5'UTR NM_001198542.1 NP_001185471.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 0 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTTTTAGTAATTTTTTTTTCT 0.333 9 447 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 17 50 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 12 233 --- --- --- --- TUBB8P7 0 broad.mit.edu 37 16 90161966 90161966 + RNA DEL T T - rs56265310 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr16:90161966delT ENST00000564451.1 + 0 1319 TUBB8P7_ENST00000567960.1_RNA CTACCATGAGTTGGGGTCACC 0.542 9 168 --- --- --- --- PLSCR3 57048 broad.mit.edu 37 17 7294059 7294059 + Frame_Shift_Del DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:7294059delC ENST00000535512.1 - 10 1742 c.725delG c.(724-726)gcfs p.G242fs PLSCR3_ENST00000576362.1_Frame_Shift_Del_p.G218fs|PLSCR3_ENST00000576201.1_Frame_Shift_Del_p.G242fs|PLSCR3_ENST00000574401.1_Frame_Shift_Del_p.G242fs|PLSCR3_ENST00000324822.11_Frame_Shift_Del_p.G242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR Q9NRY6 PLS3_HUMAN phospholipid scramblase 3 242 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding endometrium(1)|kidney(2)|urinary_tract(1) 4 Prostate(122;0.173) TCGGACCAGGCCCCCCCACTG 0.612 8 1431 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 11 259 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.591 13 606 --- --- --- --- RHBDL3 162494 broad.mit.edu 37 17 30615948 30615949 + Frame_Shift_Ins INS - - C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:30615948_30615949insC ENST00000269051.4 + 4 446_447 c.432_433insC c.(430-435)ctcccgfs p.LP144fs RHBDL3_ENST00000538145.1_Frame_Shift_Ins_p.LP136fs|RHBDL3_ENST00000536287.1_Frame_Shift_Ins_p.LP46fs NM_138328.2 NP_612201.1 P58872 RHBL3_HUMAN rhomboid, veinlet-like 3 (Drosophila) 144 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Breast(31;0.116)|Ovarian(249;0.182) ATGAGACCCTGCCCCGGGAAAT 0.609 39 379 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 8 327 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 11 493 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 34 287 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:55028016delT ENST00000240316.4 - 2 621 c.587delA c.(586-588)agfs p.K196fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 14 921 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56386383 56386384 + Frame_Shift_Ins INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:56386383_56386384insT ENST00000355701.3 - 22 5119_5120 c.4249_4250insA c.(4249-4251)ccgfs p.P1417fs BZRAP1_ENST00000343736.4_Frame_Shift_Ins_p.P1417fs|BZRAP1_ENST00000268893.6_Frame_Shift_Ins_p.P1357fs NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 157 1145 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 9 111 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141017 + RNA DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:66141017delC ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAA 0.323 7 353 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 8 338 --- --- --- --- TGIF1 7050 broad.mit.edu 37 18 3452222 3452223 + Frame_Shift_Del DEL CT CT - rs11571510 by1000genomes TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr18:3452222_3452223delCT ENST00000330513.5 + 1 548_549 c.245_246delCT c.(244-246)cfs p.P85fs TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000401449.1_Intron NM_170695.2 NP_733796.2 Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 85 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.P83fs*51(1) cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) TGCGCCCCCCCTCCTCCACCGG 0.762 10 184 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8793004 8793004 + Frame_Shift_Del DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr18:8793004delC ENST00000359865.3 + 8 2038 c.1896delC c.(1894-1896)ggfs p.G632fs SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000400050.3_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 AGCTCAGGGGCCCCCCCGTTT 0.552 8 1239 --- --- --- --- WDR7 23335 broad.mit.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr18:54358513delG ENST00000254442.3 + 8 995 c.784delG c.(784-786)ggfs p.G263fs WDR7_ENST00000357574.3_Frame_Shift_Del_p.G263fs|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 263 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GACATGGACCGGGGGGGACTT 0.418 7 678 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 13 1122 --- --- --- --- CDH19 28513 broad.mit.edu 37 18 64178924 64178925 + Splice_Site INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr18:64178924_64178925insA ENST00000262150.2 - 10 1751 c.e10-2 CDH19_ENST00000540086.1_Intron NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) CTGAATTACCTAAAAAAAAAGG 0.317 10 451 --- --- --- --- DENND1C 79958 broad.mit.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:6477251delG ENST00000381480.2 - 8 603 c.491delC c.(490-492)ctfs p.P164fs DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 164 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCCCCGGGTAGGGGGGGGGAT 0.672 8 221 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 9 1172 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:11038362_11038364delGCT ENST00000586748.1 - 4 393_395 c.221_223delAGC c.(220-225)ccg>c p.QP74del YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 74 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAGAATCCCGgctgctgctgctg 0.621 9 462 --- --- --- --- CCDC151 115948 broad.mit.edu 37 19 11541818 11541818 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:11541818delA ENST00000356392.4 - 2 354 c.267delT c.(265-267)ttfs p.F89fs CCDC151_ENST00000591179.1_Frame_Shift_Del_p.F89fs|CCDC151_ENST00000545100.1_Frame_Shift_Del_p.F35fs|CCDC151_ENST00000586836.1_5'UTR NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 89 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 GAGAGCTCTCAAAAAAAGCCT 0.537 7 1229 --- --- --- --- MAST3 23031 broad.mit.edu 37 19 18232528 18232534 + Frame_Shift_Del DEL AGGAACG AGGAACG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:18232528_18232534delAGGAACG ENST00000262811.5 + 3 105_111 c.105_111delAGGAACG c.(103-111)gtfs p.VGT35fs NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 35 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GCTTGGTGGTAGGAACGCCCTCCCCGA 0.700 34 784 --- --- --- --- LSM14A 26065 broad.mit.edu 37 19 34710340 34710340 + Frame_Shift_Del DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:34710340delC ENST00000544216.3 + 7 903 c.826delC c.(826-828)ggfs p.R276fs LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs|LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 276 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TGGGGGTCATCGGGGTGGCAG 0.438 10 906 --- --- --- --- TIMM50 92609 broad.mit.edu 37 19 39972604 39972604 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:39972604delA ENST00000314349.4 + 2 632 c.499delA c.(499-501)aafs p.K168fs TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000607714.1_Frame_Shift_Del_p.K65fs|TIMM50_ENST00000599794.1_Intron NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 65 FCP1 homology. mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGCTATGCCAAAAAAGTTGC 0.607 9 1106 --- --- --- --- C19orf47 126526 broad.mit.edu 37 19 40834399 40834399 + Frame_Shift_Del DEL G G - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:40834399delG ENST00000582783.1 - 6 483 c.471delC c.(469-471)ccfs p.P157fs C19orf47_ENST00000392035.2_Frame_Shift_Del_p.P90fs NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 157 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) CCGGGCGCCTGGGGGGTGTGC 0.612 8 1340 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 12 192 --- --- --- --- SERTAD1 29950 broad.mit.edu 37 19 40929409 40929411 + In_Frame_Del DEL CTC CTC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:40929409_40929411delCTC ENST00000357949.4 - 2 201_203 c.43_45delGAG c.(43-45)del p.E15del NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 15 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTTCCTTCTCCTCCTCCTCC 0.557 7 452 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:50474857_50474861delGACGC ENST00000602139.1 + 0 998 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGTCTCCAGGACGCTTCCCTTTGC 0.566 9 395 --- --- --- --- ZNF649 65251 broad.mit.edu 37 19 52394014 52394014 + Frame_Shift_Del DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:52394014delC ENST00000354957.3 - 5 1659 c.1375delG c.(1375-1377)atfs p.D459fs ZNF649_ENST00000600738.1_Frame_Shift_Del_p.D431fs|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TTCACTGAATCCCCCCGTTTC 0.448 7 1740 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 11 536 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 14 445 --- --- --- --- BRSK1 84446 broad.mit.edu 37 19 55815036 55815036 + Splice_Site DEL C C - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:55815036delC ENST00000309383.1 + 12 1405 c.1126_splice c.e12-1 p.D376_splice BRSK1_ENST00000590333.1_Splice_Site_p.D392_splice|BRSK1_ENST00000326848.7_Splice_Site_p.D71_splice NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 376 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.R379fs*9(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GTCCCTCAGACCCCCCCCGGA 0.582 12 537 --- --- --- --- ZNF548 147694 broad.mit.edu 37 19 57908592 57908592 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:57908592delT ENST00000598895.1 + 3 444 c.228delT c.(226-228)ccfs p.P76fs AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000597400.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000366197.5_Intron|AC003002.4_ENST00000597658.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Intron Q8NEK5 ZN548_HUMAN zinc finger protein 548 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTGTTACCCCTTTTTACCCAA 0.542 7 1936 --- --- --- --- ZNF552 79818 broad.mit.edu 37 19 58319468 58319468 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:58319468delT ENST00000391701.1 - 3 1333 c.1164delA c.(1162-1164)aafs p.K388fs ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) TTTGCCTAAATTTTTTTTCAC 0.413 7 973 --- --- --- --- PANK2 80025 broad.mit.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr20:3893120delT ENST00000497424.1 + 4 689 c.378delT c.(376-378)acfs p.T126fs PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 417 G -> A (in dbSNP:rs3737084). cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGGAGGAACTTTTTTTGGTC 0.343 10 1597 --- --- --- --- DSTN 11034 broad.mit.edu 37 20 17581488 17581489 + Frame_Shift_Ins INS - - T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr20:17581488_17581489insT ENST00000246069.6 + 2 455_456 c.109_110insT c.(109-111)tttfs p.F37fs DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Frame_Shift_Ins_p.F20fs NM_006870.3 NP_006861.1 P60981 DEST_HUMAN destrin (actin depolymerizing factor) 37 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding endometrium(1)|large_intestine(5)|lung(8)|skin(1) 15 GAAGGCTGTCATTTTTTGTCTC 0.386 21 721 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 15 510 --- --- --- --- ZMYND8 23613 broad.mit.edu 37 20 45875072 45875072 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr20:45875072delT ENST00000311275.7 - 14 2157 c.1904delA c.(1903-1905)agfs p.K635fs ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 635 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) AGGCTTGGGCTTTTTTTTAAC 0.488 12 1532 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 12 3049 --- --- --- --- ZNF831 128611 broad.mit.edu 37 20 57766219 57766220 + Frame_Shift_Ins INS - - C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr20:57766219_57766220insC ENST00000371030.2 + 1 145_146 c.145_146insC c.(145-147)cccfs p.P49fs NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 49 Pro-rich. intracellular nucleic acid binding|zinc ion binding p.T52fs*47(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCAGGGCCTGGCCCCCCCCACT 0.728 7 271 --- --- --- --- TPTE 7179 broad.mit.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr21:10944697delA ENST00000298232.7 - 10 850 c.483delT c.(481-483)ttfs p.F161fs TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 179 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTTAATGTCAAAAAAAATGT 0.299 31 1403 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11058447 11058450 + RNA DEL AAAC AAAC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr21:11058447_11058450delAAAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAAAATATTAAACAAAGGATTCG 0.294 7 139 --- --- --- --- TTC3 7267 broad.mit.edu 37 21 38524242 38524243 + Frame_Shift_Ins INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr21:38524242_38524243insA ENST00000399017.2 + 26 5073_5074 c.2326_2327insA c.(2326-2328)aaafs p.K776fs TTC3_ENST00000540756.1_Frame_Shift_Ins_p.K466fs|TTC3_ENST00000354749.2_Frame_Shift_Ins_p.K776fs|TTC3_ENST00000355666.1_Frame_Shift_Ins_p.K776fs|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 776 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.E779fs*5(2) breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) GAGAAAGATCCAAAAAAAAGAA 0.347 8 410 --- --- --- --- TRAPPC10 7109 broad.mit.edu 37 21 45472274 45472275 + Frame_Shift_Ins INS - - A rs149217788 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr21:45472274_45472275insA ENST00000291574.4 + 4 574_575 c.399_400insA c.(397-402)aaaaaafs p.KK133fs TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 133 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity p.K133N(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 ATGATGCCAAGAAAAAAAACAA 0.356 11 817 --- --- --- --- KRTAP10-7 386675 broad.mit.edu 37 21 46020656 46020670 + In_Frame_Del DEL CTGCTGCGCCCCCAG CTGCTGCGCCCCCAG - rs36208679 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr21:46020656_46020670delCTGCTGCGCCCCCAG ENST00000380102.2 + 1 160_174 c.135_149delCTGCTGCGCCCCCAG c.(133-150)ccc>cc p.PCCAPS45del TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 45 30 X 5 AA repeats of C-C-X(3). keratin filament p.S50_P54delSCCAP(1) breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC 0.698 69 78 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 13 448 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)del p.Q262del MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 30 399 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661172 22661173 + RNA INS - - C rs7410785 TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr22:22661172_22661173insC ENST00000426066.1 + 0 264_265 NR_027293.1 CATACAGGTTTTCCCCCCCCAC 0.411 7 224 --- --- --- --- IGLV3-27 0 broad.mit.edu 37 22 23011078 23011078 + RNA DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr22:23011078delA ENST00000390304.2 + 0 179 ATGTACTGGCAAAAAAATATG 0.552 7 567 --- --- --- --- ZNRF3 84133 broad.mit.edu 37 22 29445819 29445821 + In_Frame_Del DEL CAG CAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr22:29445819_29445821delCAG ENST00000544604.2 + 8 1825_1827 c.1650_1652delCAG c.(1648-1653)gac>ga p.DS550del ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 550 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CAGgcagcgacagcagcagcagc 0.660 8 279 --- --- --- --- C22orf24 25775 broad.mit.edu 37 22 32334105 32334105 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr22:32334105delA ENST00000543051.1 - 1 298 c.149delT c.(148-150)tcfs p.F50fs C22orf24_ENST00000486651.1_Intron|C22orf24_ENST00000248984.3_Intron Q9Y442 CV024_HUMAN chromosome 22 open reading frame 24 0 integral to membrane central_nervous_system(1)|urinary_tract(1) 2 ttcagagctgaaaaaaaaagg 0.453 17 952 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38119882 38119884 + In_Frame_Del DEL CCT CCT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr22:38119882_38119884delCCT ENST00000406386.3 + 7 1574_1576 c.1319_1321delCCT c.(1318-1323)gcc>g p.AS440del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 440 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 13 623 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 15 840 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 9 954 --- --- --- --- OFD1 8481 broad.mit.edu 37 X 13764946 13764946 + Frame_Shift_Del DEL A A - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chrX:13764946delA ENST00000380567.1 + 9 1154 c.282delA c.(280-282)gcfs p.A94fs OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs O75665 OFD1_HUMAN oral-facial-digital syndrome 1 234 LisH. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAATGGAAGCAAAAAAAAAGT 0.299 14 250 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360589 70360591 + In_Frame_Del DEL AGC AGC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chrX:70360589_70360591delAGC ENST00000333646.6 + 42 6357_6359 c.6158_6160delAGC c.(6157-6162)gag>g p.EQ2053del MED12_ENST00000374102.1_In_Frame_Del_p.EQ2049del|MED12_ENST00000374080.3_In_Frame_Del_p.EQ2050del|MED12_ENST00000478889.1_3'UTR NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2050 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) ATCCTACCTGagcagcagcagca 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 8 366 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76812945 76812947 + In_Frame_Del DEL TCT TCT - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chrX:76812945_76812947delTCT ENST00000373344.5 - 30 6888_6890 c.6674_6676delAGA c.(6673-6678)agg>a p.KR2225del ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.KR2187del NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2225 Poly-Lys. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GGAGTATCCCTCTTCTTCTTCTT 0.365 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 562 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chrX:76907782_76907784delTCC ENST00000373344.5 - 15 4591_4593 c.4377_4379delGGA c.(4375-4380)gaa>ga p.EE1463del ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1463 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ctcctcctcttcctcctcctcct 0.389 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 471 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 7 469 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994639 140994641 + In_Frame_Del DEL CTC CTC - rs144357389 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chrX:140994639_140994641delCTC ENST00000285879.4 + 4 1735_1737 c.1449_1451delCTC c.(1447-1452)agc>ag p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 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) TTCCTGTGAGCTCCTCCTCCTCC 0.473 HNSCC(15;0.026) 14 1115 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140996449 140996449 + Frame_Shift_Del DEL T T - TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chrX:140996449delT ENST00000285879.4 + 4 3545 c.3259delT c.(3259-3261)ttfs p.F1087fs MAGEC1_ENST00000406005.2_Frame_Shift_Del_p.F154fs NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1087 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) AGTAGTAGAGTTTTTGGCCAT 0.468 HNSCC(15;0.026) 9 804 --- --- --- ---