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 DCPS 28960 broad.mit.edu 37 11 126174162 126174162 + Missense_Mutation SNP T T A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:126174162T>A ENST00000263579.4 + 1 516 c.187T>A c.(187-189)Ttc>Atc p.F63I RP11-712L6.5_ENST00000524964.1_5'UTR NM_014026.3 NP_054745.1 Q96C86 DCPS_HUMAN decapping enzyme, scavenger 63 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) CAAAATCATTTTCCTACACGG 0.547000 22 358 0 0 1 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7618802 7618802 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:7618802C>T ENST00000299492.4 + 5 772 c.384C>T c.(382-384)ctC>ctT p.L128L PPFIBP2_ENST00000528883.1_Silent_p.L16L|PPFIBP2_ENST00000533792.1_5'UTR NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 128 L -> I (in Ref. 2; AAH21714). cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) TGAGTGTCCTCACAGACCAAG 0.512000 5 128 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102668153 102668153 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:102668153C>T ENST00000315274.6 - 2 251 c.184G>A c.(184-186)Gaa>Aaa p.E62K WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 62 blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) TTCAATTTTTCAACCACTGGG 0.433000 28 545 0 0 1 0 0 BEND5 79656 broad.mit.edu 37 1 49208355 49208355 + Silent SNP C C T rs143430976 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:49208355C>T ENST00000371833.3 - 4 920 c.834G>A c.(832-834)acG>acA p.T278T BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron|AGBL4_ENST00000371838.1_Intron NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 278 large_intestine(5)|lung(2)|skin(1) 8 AATAGGACGACGTATTTGCTT 0.478000 19 567 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150444672 150444672 + Missense_Mutation SNP C C G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:150444672C>G ENST00000401000.4 + 10 3235 c.3170C>G c.(3169-3171)gCc>gGc p.A1057G RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.A1083G Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1083 Poly-Gln. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GAAAAGGGGGCCCCTATAGAA 0.532000 33 364 0 0 1 0 0 PRKACA 5566 broad.mit.edu 37 19 14208284 14208284 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:14208284C>T ENST00000308677.4 - 8 850 c.654G>A c.(652-654)aaG>aaA p.K218K PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.K210K NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 218 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 AGTCCACGGCCTTGTTGTAGC 0.637000 22 322 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390448 45390448 + Silent SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:45390448G>A ENST00000371438.1 + 2 535 c.177G>A c.(175-177)caG>caA p.Q59Q RUNX2_ENST00000541979.1_Silent_p.Q127Q|RUNX2_ENST00000465038.2_Silent_p.Q59Q|RUNX2_ENST00000371436.6_Silent_p.Q59Q|RUNX2_ENST00000371432.3_Silent_p.Q45Q|RUNX2_ENST00000352853.5_Silent_p.Q127Q|RUNX2_ENST00000576263.1_Silent_p.Q59Q|RUNX2_ENST00000359524.5_Silent_p.Q45Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 59 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcaacagcagcagcagc 0.726000 9 359 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 7 344 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626396 1626396 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr8:1626396C>T ENST00000421627.2 + 9 2199 c.2065C>T c.(2065-2067)Cgt>Tgt p.R689C NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 768 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACGTTTTAAACGTTCTAACAG 0.557000 12 380 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15858390 15858390 + Nonsense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr21:15858390G>C ENST00000285670.2 - 9 1343 c.1169C>G c.(1168-1170)tCa>tGa p.S390* SAMSN1_ENST00000400566.1_Nonsense_Mutation_p.S322*|SAMSN1_ENST00000400564.1_Nonsense_Mutation_p.S154* NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 322 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GGAGATGTCTGAGCTCAAGGA 0.403000 7 309 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34090746 34090746 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr20:34090746C>T ENST00000397527.1 + 30 5269 c.4549C>T c.(4549-4551)Cgg>Tgg p.R1517W CEP250_ENST00000342580.4_Missense_Mutation_p.R1461W NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1517 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CGAGAAGGATCGGGAGACTCA 0.512000 14 390 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131665458 131665458 + Missense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:131665458G>C ENST00000368648.3 - 10 1031 c.959C>G c.(958-960)tCc>tGc p.S320C EBF3_ENST00000355311.5_Missense_Mutation_p.S329C NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 329 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GGATTTGTAGGAGAGGGTCAC 0.577000 6 226 0 0 1 0 0 RANBP3 8498 broad.mit.edu 37 19 5931417 5931417 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:5931417C>T ENST00000340578.6 - 8 748 c.691G>A c.(691-693)Gag>Aag p.E231K RANBP3_ENST00000591092.1_Intron|RANBP3_ENST00000439268.2_Intron|RANBP3_ENST00000034275.8_Missense_Mutation_p.E163K|RANBP3_ENST00000541471.1_Missense_Mutation_p.E103K NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 231 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 CCACTGACCTCAAGTGCACAC 0.647000 8 222 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 10 359 0 0 1 0 0 ATL3 25923 broad.mit.edu 37 11 63398868 63398868 + Missense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:63398868G>C ENST00000398868.3 - 12 1459 c.1183C>G c.(1183-1185)Ctg>Gtg p.L395V ATL3_ENST00000332645.4_Missense_Mutation_p.L422V|ATL3_ENST00000538786.1_Missense_Mutation_p.L377V NM_015459.3 NP_056274.3 Q6DD88 ATLA3_HUMAN atlastin GTPase 3 395 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 AAATGGTCCAGAGCAAGTTGT 0.408000 9 453 0 0 1 0 0 PRKAG3 53632 broad.mit.edu 37 2 219694941 219694941 + Missense_Mutation SNP A A T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:219694941A>T ENST00000439262.2 - 4 413 c.318T>A c.(316-318)gaT>gaA p.D106E PRKAG3_ENST00000529249.1_Missense_Mutation_p.D131E|PRKAG3_ENST00000392098.3_Missense_Mutation_p.D131E|PRKAG3_ENST00000545803.1_5'UTR NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 131 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTCCACATCATCTGTGCTGG 0.647000 7 272 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 11 431 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26575376 26575376 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:26575376G>A ENST00000376261.3 + 13 1842 c.1339G>A c.(1339-1341)Gga>Aga p.G447R GAD2_ENST00000259271.3_Missense_Mutation_p.G447R NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 447 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding p.G447R(2) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CTTACAGTGCGGACGCCACGT 0.433000 16 422 0 0 1 0 0 MYL1 4632 broad.mit.edu 37 2 211179819 211179819 + Translation_Start_Site SNP C C A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:211179819C>A ENST00000352451.3 - 0 95 NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) CCAAAAGAACCTGTCAAAATG 0.463000 37 985 1.22384e-17 1.3389e-17 1 1 0 SMARCA1 6594 broad.mit.edu 37 X 128599617 128599617 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chrX:128599617C>T ENST00000371122.4 - 23 3039 c.2910G>A c.(2908-2910)ttG>ttA p.L970L SMARCA1_ENST00000371121.3_Silent_p.L958L|SMARCA1_ENST00000371123.1_Silent_p.L958L NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 970 SANT 2. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 ACATACAAATCAAGAATCTAT 0.363000 13 518 0 0 1 0 0 RP11-204M4.2 0 broad.mit.edu 37 9 41962626 41962626 + RNA SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:41962626C>T ENST00000454645.1 - 0 878 NR_003670.1 TACAGGAATCCCCTTTTGATT 0.353000 36 183 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028970 59028970 + Missense_Mutation SNP T T C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:59028970T>C ENST00000594051.1 - 2 551 c.71A>G c.(70-72)aAt>aGt p.N24S ZBTB45_ENST00000600990.1_Missense_Mutation_p.N24S|ZBTB45_ENST00000354590.3_Missense_Mutation_p.N24S Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) CCTCTGCCCATTGAGGGTCTC 0.612000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 298 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 24 158 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 28 168 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc 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 10 373 0 0 1 0 0 NRN1 51299 broad.mit.edu 37 6 6002623 6002623 + Missense_Mutation SNP C C G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:6002623C>G ENST00000244766.2 - 2 380 c.163G>C c.(163-165)Ggc>Cgc p.G55R NRN1_ENST00000495850.1_5'UTR NM_016588.2 NP_057672.1 Q9NPD7 NRN1_HUMAN neuritin 1 55 GL -> AW (in Ref. 3; AAP97232). anchored to membrane|plasma membrane endometrium(2)|large_intestine(2)|lung(4) 8 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) TCGTCCAGGCCCTGCGGGTAG 0.612000 51 604 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157805907 157805907 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:157805907G>A ENST00000368174.4 - 3 190 c.94C>T c.(94-96)Cgc>Tgc p.R32C CD5L_ENST00000484609.1_5'UTR NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 32 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCTTCACAGCGGTGGAGGCCC 0.617000 32 725 0 0 1 0 0 VAC14 55697 broad.mit.edu 37 16 70814758 70814758 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:70814758G>A ENST00000261776.5 - 9 1291 c.1031C>T c.(1030-1032)cCt>cTt p.P344L NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 344 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) CCTCTGCCCAGGTCTCAGCTC 0.612000 16 182 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 11 240 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64530103 64530103 + RNA SNP G G A rs137873032 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:64530103G>A ENST00000426828.1 + 0 923 NR_033416.1 TGACTGCTTGGGACATGCAGG 0.388000 6 262 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 123855729 123855729 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr4:123855729C>T ENST00000274008.3 + 5 1052 c.983C>T c.(982-984)tCa>tTa p.S328L SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 328 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 TTTATTTCTTCAACAACAAGA 0.343000 9 293 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 12 316 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44856262 44856262 + Silent SNP C C T rs148516074 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr20:44856262C>T ENST00000372262.3 - 3 955 c.555G>A c.(553-555)acG>acA p.T185T CDH22_ENST00000537909.1_Silent_p.T185T NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 185 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GCATCACCGACGTGCCTGGGC 0.682000 8 123 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101362330 101362330 + Missense_Mutation SNP T T A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:101362330T>A ENST00000344327.3 - 3 1509 c.1085A>T c.(1084-1086)aAt>aTt p.N362I TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.N362I|TRPC6_ENST00000532133.1_Missense_Mutation_p.N362I NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 362 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) ACGGCTGAGATTTGGGCGACC 0.428000 33 856 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218293 134218293 + Missense_Mutation SNP A A C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:134218293A>C ENST00000305233.5 + 2 348 c.289A>C c.(289-291)Acc>Ccc p.T97P PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 97 Pro-rich. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCCCGAGACCACCCGCCCCGA 0.756000 31 128 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40061961 40061961 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr22:40061961G>A ENST00000336649.4 + 26 4072 c.4072G>A c.(4072-4074)Gcc>Acc p.A1358T CACNA1I_ENST00000402142.3_Missense_Mutation_p.A1352T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A1317T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000401624.1_Missense_Mutation_p.A1352T Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1352 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CTGCATGGCCGCCAACTACCG 0.597000 18 367 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890950 32890950 + RNA SNP A A G rs151263854 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:32890950A>G ENST00000330048.5 - 0 3016 NR_003083.2 ATACACCCAGACCACCACCAC 0.637000 8 290 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 10 273 0 0 1 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32928116 32928116 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr15:32928116G>A ENST00000567348.1 + 11 2156 c.1483G>A c.(1483-1485)Ggt>Agt p.G495S ARHGAP11A_ENST00000565905.1_Splice_Site_p.G306_splice|ARHGAP11A_ENST00000543522.1_Splice_Site_p.G306_splice|ARHGAP11A_ENST00000361627.3_Splice_Site_p.G495_splice|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.G467S NM_199357.1 NP_955389.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 495 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.G495C(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) ACCAAAGAAAGGTACATTTAC 0.294000 6 233 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 26 275 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8660766 8660766 + Silent SNP C C G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:8660766C>G ENST00000270328.4 - 11 1625 c.1359G>C c.(1357-1359)ctG>ctC p.L453L ADAMTS10_ENST00000597188.1_Silent_p.L453L Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 453 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GCCGGTTGTTCAGGCAGAGCC 0.592000 15 948 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29296606 29296606 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:29296606C>T ENST00000331664.5 - 1 521 c.522G>A c.(520-522)gtG>gtA p.V174V NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 174 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 CCGGGAAGTCCACTTTGCCTT 0.502000 16 498 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 11 622 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 6 101 0.000442599 0.000442599 1 1 0 FN1 2335 broad.mit.edu 37 2 216263993 216263993 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:216263993C>T ENST00000354785.4 - 21 3704 c.3335G>A c.(3334-3336)aGa>aAa p.R1112K FN1_ENST00000446046.1_Missense_Mutation_p.R1112K|FN1_ENST00000443816.1_Missense_Mutation_p.R1112K|FN1_ENST00000432072.2_Missense_Mutation_p.R1112K|FN1_ENST00000421182.1_Missense_Mutation_p.R1112K|FN1_ENST00000359671.1_Missense_Mutation_p.R1112K|FN1_ENST00000357867.4_Missense_Mutation_p.R1112K|FN1_ENST00000357009.2_Missense_Mutation_p.R1112K|FN1_ENST00000356005.4_Missense_Mutation_p.R1112K|FN1_ENST00000346544.3_Missense_Mutation_p.R1112K|FN1_ENST00000345488.5_Missense_Mutation_p.R1112K|FN1_ENST00000336916.4_Missense_Mutation_p.R1112K|FN1_ENST00000323926.6_Missense_Mutation_p.R1112K P02751 FINC_HUMAN fibronectin 1 1112 Fibronectin type-III 6. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAACCAATTCTTGGAGCAGG 0.493000 13 502 0 0 1 0 0 TMEM14B 81853 broad.mit.edu 37 6 10755436 10755436 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:10755436C>T ENST00000473276.1 + 3 194 c.85C>T c.(85-87)Cat>Tat p.H29Y SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000379530.3_Silent_p.F54F|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000481240.1_Silent_p.F54F|TMEM14B_ENST00000467317.1_Silent_p.F88F|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000379542.5_Silent_p.F88F|TMEM14B_ENST00000461342.1_Silent_p.F54F|TMEM14B_ENST00000475942.1_Silent_p.F88F Q9NUH8 TM14B_HUMAN transmembrane protein 14B 0 integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2) 11 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) ATGGAAAATTCATGCCTGTAG 0.368000 21 355 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163302689 163302689 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:163302689C>T ENST00000332142.5 - 7 1492 c.1393G>A c.(1393-1395)Gat>Aat p.D465N KCNH7_ENST00000328032.4_Missense_Mutation_p.D458N NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 465 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ATTAAAATATCTATGATAAAC 0.363000 13 320 0 0 1 0 0 MAT1A 4143 broad.mit.edu 37 10 82036258 82036258 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:82036258C>T ENST00000372213.3 - 6 902 c.642G>A c.(640-642)acG>acA p.T214T NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 214 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TCTCCTCCAGCGTGATGTCTT 0.587000 27 713 0 0 1 0 0 TPRG1 285386 broad.mit.edu 37 3 188933150 188933150 + Nonsense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr3:188933150C>T ENST00000345063.3 + 3 447 c.280C>T c.(280-282)Caa>Taa p.Q94* TPRG1_ENST00000433971.1_Nonsense_Mutation_p.Q94* NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 94 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) AGAGACCATTCAAGGCTTCTG 0.483000 10 242 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35236562 35236562 + Missense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:35236562G>C ENST00000378495.3 + 4 471 c.249G>C c.(247-249)aaG>aaC p.K83N UNC13B_ENST00000396787.1_Missense_Mutation_p.K83N|UNC13B_ENST00000378496.4_Missense_Mutation_p.K83N NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 83 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TTGCGCTGAAGACTATTCGTC 0.493000 27 652 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G C rs28934574 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr17:7577094G>C ENST00000420246.2 - 8 976 c.844C>G c.(844-846)Cgg>Ggg p.R282G TP53_ENST00000445888.2_Missense_Mutation_p.R282G|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282G|TP53_ENST00000455263.2_Missense_Mutation_p.R282G|TP53_ENST00000269305.4_Missense_Mutation_p.R282G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGTGCGCCGGTCTCTCCCA 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 76 255 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803493 142803493 + RNA SNP T T C rs80149641 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:142803493T>C ENST00000423385.1 - 0 1472 TGTACATTTATTATTGATTTA 0.323000 30 397 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44612263 44612263 + Missense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:44612263G>C ENST00000336976.6 + 6 2204 c.1950G>C c.(1948-1950)aaG>aaC p.K650N AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 650 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GTGTAGAAAAGCCATACAAAT 0.448000 21 587 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10677782 10677782 + Missense_Mutation SNP C C A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr18:10677782C>A ENST00000302079.6 - 48 7514 c.7515G>T c.(7513-7515)atG>atT p.M2505I PIEZO2_ENST00000580640.1_Missense_Mutation_p.M2593I|PIEZO2_ENST00000285141.4_Missense_Mutation_p.M360I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.M2568I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.M525I|PIEZO2_ENST00000581680.1_5'UTR Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2568 integral to membrane ion channel activity TGCCTGCTATCATTTTAGCGA 0.348000 26 470 3.01185e-09 3.13428e-09 1 1 0 TRPC6 7225 broad.mit.edu 37 11 101362468 101362468 + Splice_Site SNP T T A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:101362468T>A ENST00000344327.3 - 3 1371 c.945_splice c.e3-1 p.N316_splice TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Splice_Site_p.N316_splice|TRPC6_ENST00000532133.1_Splice_Site_p.N316_splice NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 316 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TTTGTAGTCATTCTAGGAAAA 0.368000 12 319 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64881142 64881142 + Missense_Mutation SNP A A G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr17:64881142A>G ENST00000533854.1 + 6 850 c.613A>G c.(613-615)Acc>Gcc p.T205A CACNG5_ENST00000307139.3_Missense_Mutation_p.T205A Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 205 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GAAGCGGTACACCGCGGAGGA 0.607000 7 321 0 0 1 0 0 PSMB1 5689 broad.mit.edu 37 6 170852698 170852698 + Missense_Mutation SNP C C G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:170852698C>G ENST00000262193.6 - 4 522 c.424G>C c.(424-426)Gat>Cat p.D142H PSMB1_ENST00000462957.1_5'UTR NM_002793.3 NP_002784.1 P20618 PSB1_HUMAN proteasome (prosome, macropain) subunit, beta type, 1 142 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cell junction|cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643) Bortezomib(DB00188) CCTTCTTCATCAAGTCCACCG 0.423000 16 441 0 0 1 0 0 RP11-343N15.1 0 broad.mit.edu 37 1 121115981 121115981 + RNA SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:121115981C>T ENST00000437515.1 - 0 329 CCACGGCCAACGTTCGCATTG 0.527000 6 46 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121471375 121471375 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:121471375C>T ENST00000257570.5 - 2 640 c.370G>A c.(370-372)Gag>Aag p.E124K OASL_ENST00000339275.5_Missense_Mutation_p.E124K NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 124 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTCAGGTCCTCGAGCCCGAGG 0.577000 10 590 0 0 1 0 0 PPP1R12C 54776 broad.mit.edu 37 19 55607482 55607482 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:55607482G>A ENST00000263433.3 - 8 1105 c.1090C>T c.(1090-1092)Cgg>Tgg p.R364W PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R290W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R364W NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 364 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) CCACCAGGCCGGCGCTCCTTG 0.652000 74 632 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429571 135429571 + Missense_Mutation SNP A A G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chrX:135429571A>G ENST00000394143.1 + 6 3997 c.3706A>G c.(3706-3708)Aca>Gca p.T1236A GPR112_ENST00000370652.1_Missense_Mutation_p.T1236A|GPR112_ENST00000287534.4_Missense_Mutation_p.T1173A|GPR112_ENST00000412101.1_Missense_Mutation_p.T1031A|GPR112_ENST00000394141.1_Missense_Mutation_p.T1031A NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1236 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TTCATCTGCCACATATCGTGT 0.473000 68 1476 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 92 3.59834e-05 3.62667e-05 1 1 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 6 238 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144823868 144823868 + Missense_Mutation SNP T T G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:144823868T>G ENST00000440491.2 + 9 1135 c.1135T>G c.(1135-1137)Tat>Gat p.Y379D NBPF9_ENST00000338347.4_Missense_Mutation_p.Y379D|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y64D|NBPF9_ENST00000468645.1_3'UTR NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 GGACTCACTGTATAGATGTTA 0.478000 8 250 0 0 1 0 0 ANKMY2 57037 broad.mit.edu 37 7 16655415 16655415 + Missense_Mutation SNP C C A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:16655415C>A ENST00000306999.2 - 5 728 c.485G>T c.(484-486)gGc>gTc p.G162V NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 162 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) GTGCAGCGGGCCTGCCAACTT 0.428000 25 256 1.55469e-16 1.68645e-16 1 1 0 ZCCHC11 23318 broad.mit.edu 37 1 52940826 52940826 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:52940826G>A ENST00000371544.3 - 13 2667 c.2405C>T c.(2404-2406)aCc>aTc p.T802I ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T802I|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 802 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GCTTTTGCTGGTAGAAAGAGA 0.363000 39 861 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304896 102304896 + RNA SNP C C G rs145942024 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr15:102304896C>G ENST00000561463.1 + 0 12942 GAAGACACTCCTGGAGGAGTC 0.562000 5 99 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 619972 619972 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:619972C>T ENST00000588649.2 - 12 2956 c.2872G>A c.(2872-2874)Ggc>Agc p.G958S NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 958 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding p.G958S(1) cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGCCACGCCGCTGTACACG 0.701000 6 87 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141759383 141759383 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:141759383C>T ENST00000475668.2 + 32 3985 c.3931C>T c.(3931-3933)Cgg>Tgg p.R1311W MGAM_ENST00000549489.2_Missense_Mutation_p.R1311W O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1311 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGATGGGATGCGGGTCATCCT 0.512000 17 310 0 0 1 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 11 145 0 0 1 0 0 GARS 2617 broad.mit.edu 37 7 30662035 30662035 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:30662035G>A ENST00000389266.3 + 12 1811 c.1570G>A c.(1570-1572)Gag>Aag p.E524K NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 524 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) CATTTGTGATGAGTGCTACAT 0.423000 42 1060 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 6 245 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64498737 64498737 + RNA SNP C C A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:64498737C>A ENST00000426828.1 + 0 0 NR_033416.1 gaggcggtggcggcggcggca 0.786000 14 55 1.01871e-10 1.07765e-10 1 1 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron 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 18 491 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262103 39262103 + Missense_Mutation SNP A A T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr17:39262103A>T ENST00000391415.1 + 1 520 c.463A>T c.(463-465)Agc>Tgc p.S155C NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 155 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 ccccagctgcagcatctccag 0.672000 7 102 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90660239 90660239 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:90660239G>A ENST00000257749.4 - 7 2293 c.1586C>T c.(1585-1587)gCg>gTg p.A529V BACH2_ENST00000537989.1_Missense_Mutation_p.A529V|BACH2_ENST00000343122.3_Missense_Mutation_p.A529V|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 529 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CCCGTCCTCCGCGTAGGAATA 0.622000 23 468 0 0 1 0 0 BCKDHA 593 broad.mit.edu 37 19 41928149 41928149 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:41928149G>A ENST00000269980.2 + 6 1095 c.727G>A c.(727-729)Gag>Aag p.E243K CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000457836.2_Missense_Mutation_p.E221K|BCKDHA_ENST00000595085.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000535632.1_3'UTR NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 243 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 GGCAGCCAGTGAGGGGGACGC 0.642000 8 429 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55033728 55033728 + Silent SNP C C T rs112583744 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr20:55033728C>T ENST00000371336.3 + 6 2487 c.2286C>T c.(2284-2286)gcC>gcT p.A762A CASS4_ENST00000360314.3_Silent_p.A762A|CASS4_ENST00000434344.1_Silent_p.A325A NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 762 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CCAGCCCTGCCGCGCTGGGGC 0.637000 7 152 0 0 1 0 0 DCPS 28960 broad.mit.edu 37 11 126174162 126174162 + Missense_Mutation SNP T T A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:126174162T>A ENST00000263579.4 + 1 516 c.187T>A c.(187-189)Ttc>Atc p.F63I RP11-712L6.5_ENST00000524964.1_5'UTR NM_014026.3 NP_054745.1 Q96C86 DCPS_HUMAN decapping enzyme, scavenger 63 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) CAAAATCATTTTCCTACACGG 0.547000 22 358 0 0 1 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7618802 7618802 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:7618802C>T ENST00000299492.4 + 5 772 c.384C>T c.(382-384)ctC>ctT p.L128L PPFIBP2_ENST00000528883.1_Silent_p.L16L|PPFIBP2_ENST00000533792.1_5'UTR NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 128 L -> I (in Ref. 2; AAH21714). cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) TGAGTGTCCTCACAGACCAAG 0.512000 5 128 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr20:29625955A>T ENST00000278882.3 + 5 579 c.199A>T c.(199-201)Aga>Tga p.R67* FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338000 24 487 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102668153 102668153 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:102668153C>T ENST00000315274.6 - 2 251 c.184G>A c.(184-186)Gaa>Aaa p.E62K WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 62 blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) TTCAATTTTTCAACCACTGGG 0.433000 28 545 0 0 1 0 0 BEND5 79656 broad.mit.edu 37 1 49208355 49208355 + Silent SNP C C T rs143430976 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:49208355C>T ENST00000371833.3 - 4 920 c.834G>A c.(832-834)acG>acA p.T278T AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 278 large_intestine(5)|lung(2)|skin(1) 8 AATAGGACGACGTATTTGCTT 0.478000 19 567 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150444672 150444672 + Missense_Mutation SNP C C G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:150444672C>G ENST00000401000.4 + 10 3235 c.3170C>G c.(3169-3171)gCc>gGc p.A1057G RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.A1083G Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1083 Poly-Gln. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GAAAAGGGGGCCCCTATAGAA 0.532000 33 364 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 25 369 0 0 1 0 0 GOLGA6L7P 0 broad.mit.edu 37 15 29092219 29092219 + RNA SNP C C T rs141516940 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr15:29092219C>T ENST00000569815.1 - 0 296 NR_047567.1 CATCCTCAGGCGAGTGGCAGC 0.552000 8 112 0 0 1 0 0 PRKACA 5566 broad.mit.edu 37 19 14208284 14208284 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:14208284C>T ENST00000308677.4 - 8 850 c.654G>A c.(652-654)aaG>aaA p.K218K PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.K210K NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 218 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 AGTCCACGGCCTTGTTGTAGC 0.637000 22 322 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390448 45390448 + Silent SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:45390448G>A ENST00000371438.1 + 2 535 c.177G>A c.(175-177)caG>caA p.Q59Q RUNX2_ENST00000541979.1_Silent_p.Q127Q|RUNX2_ENST00000359524.5_Silent_p.Q45Q|RUNX2_ENST00000352853.5_Silent_p.Q127Q|RUNX2_ENST00000576263.1_Silent_p.Q59Q|RUNX2_ENST00000465038.2_Silent_p.Q59Q|RUNX2_ENST00000371432.3_Silent_p.Q45Q|RUNX2_ENST00000371436.6_Silent_p.Q59Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 59 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcaacagcagcagcagc 0.726000 9 359 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626396 1626396 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr8:1626396C>T ENST00000421627.2 + 9 2199 c.2065C>T c.(2065-2067)Cgt>Tgt p.R689C NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 768 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACGTTTTAAACGTTCTAACAG 0.557000 12 380 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15858390 15858390 + Nonsense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr21:15858390G>C ENST00000285670.2 - 9 1343 c.1169C>G c.(1168-1170)tCa>tGa p.S390* SAMSN1_ENST00000400564.1_Nonsense_Mutation_p.S154*|SAMSN1_ENST00000400566.1_Nonsense_Mutation_p.S322* NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 322 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GGAGATGTCTGAGCTCAAGGA 0.403000 7 309 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 8 174 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34090746 34090746 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr20:34090746C>T ENST00000397527.1 + 30 5269 c.4549C>T c.(4549-4551)Cgg>Tgg p.R1517W CEP250_ENST00000342580.4_Missense_Mutation_p.R1461W NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1517 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CGAGAAGGATCGGGAGACTCA 0.512000 14 390 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131665458 131665458 + Missense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr10:131665458G>C ENST00000368648.3 - 10 1031 c.959C>G c.(958-960)tCc>tGc p.S320C EBF3_ENST00000355311.5_Missense_Mutation_p.S329C NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 329 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GGATTTGTAGGAGAGGGTCAC 0.577000 6 226 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 10 359 0 0 1 0 0 ATL3 25923 broad.mit.edu 37 11 63398868 63398868 + Missense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:63398868G>C ENST00000398868.3 - 12 1459 c.1183C>G c.(1183-1185)Ctg>Gtg p.L395V ATL3_ENST00000538786.1_Missense_Mutation_p.L377V|ATL3_ENST00000332645.4_Missense_Mutation_p.L422V NM_015459.3 NP_056274.3 Q6DD88 ATLA3_HUMAN atlastin GTPase 3 395 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 AAATGGTCCAGAGCAAGTTGT 0.408000 9 453 0 0 1 0 0 PRKAG3 53632 broad.mit.edu 37 2 219694941 219694941 + Missense_Mutation SNP A A T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:219694941A>T ENST00000439262.2 - 4 413 c.318T>A c.(316-318)gaT>gaA p.D106E PRKAG3_ENST00000392098.3_Missense_Mutation_p.D131E|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000529249.1_Missense_Mutation_p.D131E NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 131 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTCCACATCATCTGTGCTGG 0.647000 7 272 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 11 431 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26575376 26575376 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr10:26575376G>A ENST00000376261.3 + 13 1842 c.1339G>A c.(1339-1341)Gga>Aga p.G447R GAD2_ENST00000259271.3_Missense_Mutation_p.G447R NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 447 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding p.G447R(2) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CTTACAGTGCGGACGCCACGT 0.433000 16 422 0 0 1 0 0 MYL1 4632 broad.mit.edu 37 2 211179819 211179819 + Translation_Start_Site SNP C C A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:211179819C>A ENST00000352451.3 - 0 95 NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) CCAAAAGAACCTGTCAAAATG 0.463000 37 985 1.61788e-16 1.70085e-16 1 1 0 GOLGA6L7P 0 broad.mit.edu 37 15 29092234 29092234 + RNA SNP C C A rs150917533 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr15:29092234C>A ENST00000569815.1 - 0 281 NR_047567.1 GGCAGCCCCCCGAAGTGGTTG 0.542000 7 111 9.16793e-09 9.31947e-09 1 1 0 SMARCA1 6594 broad.mit.edu 37 X 128599617 128599617 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:128599617C>T ENST00000371122.4 - 23 3039 c.2910G>A c.(2908-2910)ttG>ttA p.L970L SMARCA1_ENST00000371121.3_Silent_p.L958L|SMARCA1_ENST00000371123.1_Silent_p.L958L NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 970 SANT 2. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 ACATACAAATCAAGAATCTAT 0.363000 13 518 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028970 59028970 + Missense_Mutation SNP T T C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:59028970T>C ENST00000594051.1 - 2 551 c.71A>G c.(70-72)aAt>aGt p.N24S ZBTB45_ENST00000600990.1_Missense_Mutation_p.N24S|ZBTB45_ENST00000354590.3_Missense_Mutation_p.N24S Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) CCTCTGCCCATTGAGGGTCTC 0.612000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 298 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 24 158 0 0 1 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32928116 32928116 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr15:32928116G>A ENST00000567348.1 + 11 2156 c.1483G>A c.(1483-1485)Ggt>Agt p.G495S ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.G467S|ARHGAP11A_ENST00000361627.3_Splice_Site_p.G495_splice|ARHGAP11A_ENST00000543522.1_Splice_Site_p.G306_splice|ARHGAP11A_ENST00000565905.1_Splice_Site_p.G306_splice NM_199357.1 NP_955389.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 495 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.G495C(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) ACCAAAGAAAGGTACATTTAC 0.294000 6 233 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 10 373 0 0 1 0 0 NRN1 51299 broad.mit.edu 37 6 6002623 6002623 + Missense_Mutation SNP C C G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:6002623C>G ENST00000244766.2 - 2 380 c.163G>C c.(163-165)Ggc>Cgc p.G55R NRN1_ENST00000495850.1_5'UTR NM_016588.2 NP_057672.1 Q9NPD7 NRN1_HUMAN neuritin 1 55 GL -> AW (in Ref. 3; AAP97232). anchored to membrane|plasma membrane endometrium(2)|large_intestine(2)|lung(4) 8 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) TCGTCCAGGCCCTGCGGGTAG 0.612000 51 604 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157805907 157805907 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:157805907G>A ENST00000368174.4 - 3 190 c.94C>T c.(94-96)Cgc>Tgc p.R32C CD5L_ENST00000484609.1_5'UTR NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 32 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCTTCACAGCGGTGGAGGCCC 0.617000 32 725 0 0 1 0 0 VAC14 55697 broad.mit.edu 37 16 70814758 70814758 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr16:70814758G>A ENST00000261776.5 - 9 1291 c.1031C>T c.(1030-1032)cCt>cTt p.P344L NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 344 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) CCTCTGCCCAGGTCTCAGCTC 0.612000 16 182 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 11 240 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64530103 64530103 + RNA SNP G G A rs137873032 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:64530103G>A ENST00000426828.1 + 0 923 NR_033416.1 TGACTGCTTGGGACATGCAGG 0.388000 6 262 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 123855729 123855729 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr4:123855729C>T ENST00000274008.3 + 5 1052 c.983C>T c.(982-984)tCa>tTa p.S328L SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 328 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 TTTATTTCTTCAACAACAAGA 0.343000 9 293 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 12 316 0 0 1 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48131367 48131367 + Nonsense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr12:48131367G>A ENST00000405493.2 - 28 2838 c.2629C>T c.(2629-2631)Cga>Tga p.R877* RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R810*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R919*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R877*|RAPGEF3_ENST00000449771.2_Nonsense_Mutation_p.R919*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R877*|RP1-197B17.3_ENST00000547799.1_lincRNA NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 877 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TCCAGCTCTCGGGAGAGGCGG 0.647000 4 97 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44856262 44856262 + Silent SNP C C T rs148516074 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr20:44856262C>T ENST00000372262.3 - 3 955 c.555G>A c.(553-555)acG>acA p.T185T CDH22_ENST00000537909.1_Silent_p.T185T NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 185 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GCATCACCGACGTGCCTGGGC 0.682000 8 123 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) 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) TAAAGTCCTAGTTCACTCTCA 0.473000 18 473 5.34276e-22 5.71442e-22 1 1 0 TRPC6 7225 broad.mit.edu 37 11 101362330 101362330 + Missense_Mutation SNP T T A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:101362330T>A ENST00000344327.3 - 3 1509 c.1085A>T c.(1084-1086)aAt>aTt p.N362I TRPC6_ENST00000360497.4_Missense_Mutation_p.N362I|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.N362I NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 362 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) ACGGCTGAGATTTGGGCGACC 0.428000 33 856 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 7 195 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218293 134218293 + Missense_Mutation SNP A A C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr10:134218293A>C ENST00000305233.5 + 2 348 c.289A>C c.(289-291)Acc>Ccc p.T97P PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 97 Pro-rich. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCCCGAGACCACCCGCCCCGA 0.756000 31 128 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40061961 40061961 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr22:40061961G>A ENST00000336649.4 + 26 4072 c.4072G>A c.(4072-4074)Gcc>Acc p.A1358T CACNA1I_ENST00000402142.3_Missense_Mutation_p.A1352T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A1317T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000401624.1_Missense_Mutation_p.A1352T Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1352 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CTGCATGGCCGCCAACTACCG 0.597000 18 367 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 10 273 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 17 76 0 0 1 0 0 MAT1A 4143 broad.mit.edu 37 10 82036258 82036258 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr10:82036258C>T ENST00000372213.3 - 6 902 c.642G>A c.(640-642)acG>acA p.T214T NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 214 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TCTCCTCCAGCGTGATGTCTT 0.587000 27 713 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8660766 8660766 + Silent SNP C C G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:8660766C>G ENST00000270328.4 - 11 1625 c.1359G>C c.(1357-1359)ctG>ctC p.L453L ADAMTS10_ENST00000597188.1_Silent_p.L453L Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 453 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GCCGGTTGTTCAGGCAGAGCC 0.592000 15 948 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29296606 29296606 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:29296606C>T ENST00000331664.5 - 1 521 c.522G>A c.(520-522)gtG>gtA p.V174V NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 174 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 CCGGGAAGTCCACTTTGCCTT 0.502000 16 498 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216263993 216263993 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:216263993C>T ENST00000354785.4 - 21 3704 c.3335G>A c.(3334-3336)aGa>aAa p.R1112K FN1_ENST00000357009.2_Missense_Mutation_p.R1112K|FN1_ENST00000356005.4_Missense_Mutation_p.R1112K|FN1_ENST00000346544.3_Missense_Mutation_p.R1112K|FN1_ENST00000345488.5_Missense_Mutation_p.R1112K|FN1_ENST00000323926.6_Missense_Mutation_p.R1112K|FN1_ENST00000432072.2_Missense_Mutation_p.R1112K|FN1_ENST00000446046.1_Missense_Mutation_p.R1112K|FN1_ENST00000443816.1_Missense_Mutation_p.R1112K|FN1_ENST00000421182.1_Missense_Mutation_p.R1112K|FN1_ENST00000357867.4_Missense_Mutation_p.R1112K|FN1_ENST00000336916.4_Missense_Mutation_p.R1112K|FN1_ENST00000359671.1_Missense_Mutation_p.R1112K P02751 FINC_HUMAN fibronectin 1 1112 Fibronectin type-III 6. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAACCAATTCTTGGAGCAGG 0.493000 13 502 0 0 1 0 0 TMEM14B 81853 broad.mit.edu 37 6 10755436 10755436 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:10755436C>T ENST00000473276.1 + 3 194 c.85C>T c.(85-87)Cat>Tat p.H29Y TMEM14B_ENST00000475942.1_Silent_p.F88F|TMEM14B_ENST00000379542.5_Silent_p.F88F|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000379530.3_Silent_p.F54F|TMEM14B_ENST00000491103.1_3'UTR|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000481240.1_Silent_p.F54F|TMEM14B_ENST00000461342.1_Silent_p.F54F|TMEM14B_ENST00000467317.1_Silent_p.F88F Q9NUH8 TM14B_HUMAN transmembrane protein 14B 0 integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2) 11 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) ATGGAAAATTCATGCCTGTAG 0.368000 21 355 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163302689 163302689 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:163302689C>T ENST00000332142.5 - 7 1492 c.1393G>A c.(1393-1395)Gat>Aat p.D465N KCNH7_ENST00000328032.4_Missense_Mutation_p.D458N NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 465 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ATTAAAATATCTATGATAAAC 0.363000 13 320 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35236562 35236562 + Missense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr9:35236562G>C ENST00000378495.3 + 4 471 c.249G>C c.(247-249)aaG>aaC p.K83N UNC13B_ENST00000396787.1_Missense_Mutation_p.K83N|UNC13B_ENST00000378496.4_Missense_Mutation_p.K83N NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 83 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TTGCGCTGAAGACTATTCGTC 0.493000 27 652 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G C rs28934574 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:7577094G>C ENST00000420246.2 - 8 976 c.844C>G c.(844-846)Cgg>Ggg p.R282G TP53_ENST00000445888.2_Missense_Mutation_p.R282G|TP53_ENST00000455263.2_Missense_Mutation_p.R282G|TP53_ENST00000269305.4_Missense_Mutation_p.R282G|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGTGCGCCGGTCTCTCCCA 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 76 255 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10677782 10677782 + Missense_Mutation SNP C C A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr18:10677782C>A ENST00000302079.6 - 48 7514 c.7515G>T c.(7513-7515)atG>atT p.M2505I PIEZO2_ENST00000538948.1_Missense_Mutation_p.M525I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.M2593I|PIEZO2_ENST00000285141.4_Missense_Mutation_p.M360I|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Missense_Mutation_p.M2568I Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2568 integral to membrane ion channel activity TGCCTGCTATCATTTTAGCGA 0.348000 26 470 3.01185e-09 3.11309e-09 1 1 0 TRPC6 7225 broad.mit.edu 37 11 101362468 101362468 + Splice_Site SNP T T A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:101362468T>A ENST00000344327.3 - 3 1371 c.945_splice c.e3-1 p.N316_splice TRPC6_ENST00000360497.4_Splice_Site_p.N316_splice|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Splice_Site_p.N316_splice NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 316 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TTTGTAGTCATTCTAGGAAAA 0.368000 12 319 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 11 426 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64881142 64881142 + Missense_Mutation SNP A A G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:64881142A>G ENST00000533854.1 + 6 850 c.613A>G c.(613-615)Acc>Gcc p.T205A CACNG5_ENST00000307139.3_Missense_Mutation_p.T205A Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 205 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GAAGCGGTACACCGCGGAGGA 0.607000 7 321 0 0 1 0 0 PSMB1 5689 broad.mit.edu 37 6 170852698 170852698 + Missense_Mutation SNP C C G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:170852698C>G ENST00000262193.6 - 4 522 c.424G>C c.(424-426)Gat>Cat p.D142H PSMB1_ENST00000462957.1_5'UTR NM_002793.3 NP_002784.1 P20618 PSB1_HUMAN proteasome (prosome, macropain) subunit, beta type, 1 142 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cell junction|cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643) Bortezomib(DB00188) CCTTCTTCATCAAGTCCACCG 0.423000 16 441 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296403 145296403 + Silent SNP C C T rs4996269 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:145296403C>T ENST00000342960.5 + 3 360 c.325C>T c.(325-327)Cta>Tta p.L109L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron 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 33 874 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44612263 44612263 + Missense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:44612263G>C ENST00000336976.6 + 6 2204 c.1950G>C c.(1948-1950)aaG>aaC p.K650N AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 650 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GTGTAGAAAAGCCATACAAAT 0.448000 21 587 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121471375 121471375 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr12:121471375C>T ENST00000257570.5 - 2 640 c.370G>A c.(370-372)Gag>Aag p.E124K OASL_ENST00000339275.5_Missense_Mutation_p.E124K NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 124 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTCAGGTCCTCGAGCCCGAGG 0.577000 10 590 0 0 1 0 0 PPP1R12C 54776 broad.mit.edu 37 19 55607482 55607482 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:55607482G>A ENST00000263433.3 - 8 1105 c.1090C>T c.(1090-1092)Cgg>Tgg p.R364W PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R290W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R364W NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 364 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) CCACCAGGCCGGCGCTCCTTG 0.652000 74 632 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429571 135429571 + Missense_Mutation SNP A A G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:135429571A>G ENST00000394143.1 + 6 3997 c.3706A>G c.(3706-3708)Aca>Gca p.T1236A GPR112_ENST00000370652.1_Missense_Mutation_p.T1236A|GPR112_ENST00000394141.1_Missense_Mutation_p.T1031A|GPR112_ENST00000287534.4_Missense_Mutation_p.T1173A|GPR112_ENST00000412101.1_Missense_Mutation_p.T1031A NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1236 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TTCATCTGCCACATATCGTGT 0.473000 68 1476 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 92 3.59834e-05 3.62783e-05 1 1 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 6 238 0 0 1 0 0 ANKMY2 57037 broad.mit.edu 37 7 16655415 16655415 + Missense_Mutation SNP C C A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:16655415C>A ENST00000306999.2 - 5 728 c.485G>T c.(484-486)gGc>gTc p.G162V NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 162 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) GTGCAGCGGGCCTGCCAACTT 0.428000 25 256 1.55469e-16 1.64851e-16 1 1 0 ZCCHC11 23318 broad.mit.edu 37 1 52940826 52940826 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:52940826G>A ENST00000371544.3 - 13 2667 c.2405C>T c.(2404-2406)aCc>aTc p.T802I ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T802I|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 802 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GCTTTTGCTGGTAGAAAGAGA 0.363000 39 861 0 0 1 0 0 RANBP3 8498 broad.mit.edu 37 19 5931417 5931417 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:5931417C>T ENST00000340578.6 - 8 748 c.691G>A c.(691-693)Gag>Aag p.E231K RANBP3_ENST00000541471.1_Missense_Mutation_p.E103K|RANBP3_ENST00000034275.8_Missense_Mutation_p.E163K|RANBP3_ENST00000439268.2_Intron|RANBP3_ENST00000591092.1_Intron NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 231 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 CCACTGACCTCAAGTGCACAC 0.647000 8 222 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 619972 619972 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:619972C>T ENST00000588649.2 - 12 2956 c.2872G>A c.(2872-2874)Ggc>Agc p.G958S NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 958 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding p.G958S(1) cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGCCACGCCGCTGTACACG 0.701000 6 87 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141759383 141759383 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:141759383C>T ENST00000475668.2 + 32 3985 c.3931C>T c.(3931-3933)Cgg>Tgg p.R1311W MGAM_ENST00000549489.2_Missense_Mutation_p.R1311W O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1311 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGATGGGATGCGGGTCATCCT 0.512000 17 310 0 0 1 0 0 GARS 2617 broad.mit.edu 37 7 30662035 30662035 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:30662035G>A ENST00000389266.3 + 12 1811 c.1570G>A c.(1570-1572)Gag>Aag p.E524K NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 524 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) CATTTGTGATGAGTGCTACAT 0.423000 42 1060 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 6 245 0 0 1 0 0 TPRG1 285386 broad.mit.edu 37 3 188933150 188933150 + Nonsense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr3:188933150C>T ENST00000345063.3 + 3 447 c.280C>T c.(280-282)Caa>Taa p.Q94* TPRG1_ENST00000433971.1_Nonsense_Mutation_p.Q94* NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 94 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) AGAGACCATTCAAGGCTTCTG 0.483000 10 242 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262083 39262083 + Missense_Mutation SNP A A C rs75392608 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:39262083A>C ENST00000391415.1 + 1 500 c.443A>C c.(442-444)aAc>aCc p.N148T NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 148 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 tgccagcccaactgctgccgc 0.667000 7 131 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron 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 18 491 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90660239 90660239 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:90660239G>A ENST00000257749.4 - 7 2293 c.1586C>T c.(1585-1587)gCg>gTg p.A529V RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.A529V|BACH2_ENST00000537989.1_Missense_Mutation_p.A529V NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 529 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CCCGTCCTCCGCGTAGGAATA 0.622000 23 468 0 0 1 0 0 BCKDHA 593 broad.mit.edu 37 19 41928149 41928149 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:41928149G>A ENST00000269980.2 + 6 1095 c.727G>A c.(727-729)Gag>Aag p.E243K CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000457836.2_Missense_Mutation_p.E221K|BCKDHA_ENST00000595085.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000535632.1_3'UTR NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 243 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 GGCAGCCAGTGAGGGGGACGC 0.642000 8 429 0 0 1 0 0 DDX11L1 0 broad.mit.edu 37 1 13417 13418 + RNA INS - - GAGA TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:13417_13418insGAGA ENST00000456328.2 + 0 665_666 NR_046018.2|NR_051986.1 TCCACCACCCCGAGATCACATT 0.559 14 162 --- --- --- --- PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 13 517 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCATCTGCTACTGTTTTTTTCA 0.455 9 1353 --- --- --- --- AHDC1 27245 broad.mit.edu 37 1 27875353 27875355 + In_Frame_Del DEL AGG AGG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:27875353_27875355delAGG ENST00000374011.2 - 6 4240_4242 c.3272_3274delCCT c.(3271-3276)ttc>t p.SF1091del AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del 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 10 262 --- --- --- --- PABPC4 8761 broad.mit.edu 37 1 40028016 40028016 + Frame_Shift_Del DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:40028016delG ENST00000372857.3 - 13 2485 c.1693delC c.(1693-1695)agfs p.Q565fs PABPC4_ENST00000372856.3_Frame_Shift_Del_p.Q552fs|PABPC4_ENST00000372862.3_Frame_Shift_Del_p.Q536fs|PABPC4_ENST00000372858.3_Frame_Shift_Del_p.Q581fs NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 565 PABC. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTCTGTTCCTGGGGGGGTGCT 0.602 7 691 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc 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 8 402 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 7 441 --- --- --- --- LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 25 349 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 8 1306 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 12 655 --- --- --- --- GBP2 2634 broad.mit.edu 37 1 89587526 89587528 + In_Frame_Del DEL CCA CCA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:89587526_89587528delCCA ENST00000370466.3 - 2 390_392 c.122_124delTGG c.(121-126)gcg>g p.VA41del NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 41 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) CCCACAATCGCCACCACCACCAC 0.527 7 675 --- --- --- --- CDC7 8317 broad.mit.edu 37 1 91967356 91967357 + Frame_Shift_Ins INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:91967356_91967357insA ENST00000428239.1 + 2 342_343 c.83_84insA c.(82-84)taafs p.*28fs CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.*28fs NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAACG 0.406 9 630 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 7 1497 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 18 81 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 7 389 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210446 143210446 + RNA DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:143210446delT ENST00000412204.2 - 0 624 RP11-782C8.1_ENST00000438000.1_lincRNA GTCCATATACTAAAAAGGTTA 0.284 8 113 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 7 1376 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 9 964 --- --- --- --- NES 10763 broad.mit.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:156642804delG ENST00000368223.3 - 4 1308 c.1176delC c.(1174-1176)ccfs p.P392fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 392 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTGAGGTGTGGGGGGGATGG 0.597 7 1291 --- --- --- --- NR1I3 0 broad.mit.edu 37 1 161202999 161203000 + Frame_Shift_Ins INS - - G rs139473535 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:161202999_161203000insG ENST00000367983.4 - 4 661_662 c.367_368insC c.(367-369)ccafs p.P123fs NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCATGTGGCGGGTGTGGGCC 0.564 9 1634 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCATCAAATCTAAAAGAAAAAA 0.381 14 374 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 185880816 185880816 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:185880816delA ENST00000271588.4 + 6 1033 c.804delA c.(802-804)atfs p.I268fs HMCN1_ENST00000367492.2_Frame_Shift_Del_p.I268fs NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 268 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGAAGCTGATAAAAAAGGGAT 0.388 7 1277 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276542 186276544 + In_Frame_Del DEL CTC CTC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:186276542_186276544delCTC ENST00000445192.2 + 7 1736_1738 c.1691_1693delCTC c.(1690-1695)acc>a p.TP564del PRG4_ENST00000367486.3_In_Frame_Del_p.TP521del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP523del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_In_Frame_Del_p.TP471del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 564 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GCACCCACCACTCCCAAGGAGCC 0.640 23 967 --- --- --- --- ARV1 64801 broad.mit.edu 37 1 231131567 231131567 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:231131567delA ENST00000310256.2 + 4 567 c.510delA c.(508-510)gcfs p.A170fs ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs|ARV1_ENST00000497753.1_3'UTR NM_022786.1 NP_073623.1 Q9H2C2 ARV1_HUMAN ARV1 homolog (S. cerevisiae) 170 sphingolipid metabolic process integral to membrane breast(3)|large_intestine(2)|lung(2) 7 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233) CCATGACGGCAAAAAAAAAGC 0.383 13 433 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 18 460 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 9 853 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 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 CATTTTGTCTTCCTCCTCCTCCT 0.542 7 875 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 9 495 --- --- --- --- SLC4A5 57835 broad.mit.edu 37 2 74451994 74451994 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:74451994delT ENST00000394019.2 - 28 3616 c.3219delA c.(3217-3219)aafs p.K1073fs SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000359484.4_Frame_Shift_Del_p.K971fs|SLC4A5_ENST00000358683.4_Frame_Shift_Del_p.K971fs|SLC4A5_ENST00000357822.5_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000346834.4_Frame_Shift_Del_p.K992fs|SLC4A5_ENST00000377632.1_Frame_Shift_Del_p.K992fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_3'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1089 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CGTGGGCCCCTTTTTTTCTCT 0.517 8 1233 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95522922 95522924 + RNA DEL ACT ACT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:95522922_95522924delACT ENST00000432432.2 - 0 103_105 NR_040113.1 CATGGCGGTGACTACTTCTCAGA 0.655 8 368 --- --- --- --- SULT1C3 442038 broad.mit.edu 37 2 108863685 108863685 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:108863685delA ENST00000329106.2 + 1 35 c.35delA c.(34-36)gafs p.E12fs SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 12 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 CCCACGATGGAAAAAAAGCCA 0.353 7 695 --- --- --- --- SEPT10 151011 broad.mit.edu 37 2 110301827 110301828 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:110301827_110301828insT ENST00000356688.4 - 12 1821_1822 c.1506_1507insA c.(1504-1509)aatagafs p.NR502fs SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000437928.1_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 8 291 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 7 465 --- --- --- --- ERCC3 2071 broad.mit.edu 37 2 128046944 128046946 + In_Frame_Del DEL TCT TCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:128046944_128046946delTCT ENST00000493187.2 - 6 1060_1062 c.597_599delAGA c.(595-600)gag>ga p.EE199del ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 263 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGTCTGTGTCTCTTCTTCTTCTT 0.473 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 8 346 --- --- --- --- SAP130 79595 broad.mit.edu 37 2 128712656 128712656 + Frame_Shift_Del DEL C C - rs112429524 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:128712656delC ENST00000357702.5 - 16 2535 c.2404delG c.(2404-2406)tgfs p.V802fs SAP130_ENST00000259235.3_Frame_Shift_Del_p.V767fs|SAP130_ENST00000259234.6_Frame_Shift_Del_p.V775fs NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 767 Pro-rich. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CTGCCACCCACAGTGACTGAT 0.532 41 453 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc 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 12 483 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000328737.2_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 7 87 --- --- --- --- BZW1 9689 broad.mit.edu 37 2 201683504 201683505 + Frame_Shift_Ins INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:201683504_201683505insA ENST00000409600.1 + 9 1301_1302 c.846_847insA c.(844-849)ataaaafs p.IK282fs BZW1_ENST00000409226.1_Frame_Shift_Ins_p.IK286fs|BZW1_ENST00000452790.2_Frame_Shift_Ins_p.IK314fs NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 282 W2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 AGGAGGAGATGAAAAAAAACAA 0.371 7 280 --- --- --- --- NBEAL1 65065 broad.mit.edu 37 2 204000806 204000807 + Frame_Shift_Ins INS - - TG TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:204000806_204000807insTG ENST00000449802.1 + 27 4466_4467 c.4133_4134insTG c.(4132-4134)agafs p.R1378fs NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1378 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CTCAGTGGAATTGACTCATGTG 0.436 28 371 --- --- --- --- AAMP 14 broad.mit.edu 37 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:219134766delG ENST00000248450.4 - 1 214 c.44delC c.(43-45)cafs p.P15fs AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs Q13685 AAMP_HUMAN angio-associated, migratory cell protein 15 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding p.L16fs*9(1) haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCTCCAGTGGGGGGGTGTC 0.617 11 2583 --- --- --- --- RQCD1 9125 broad.mit.edu 37 2 219449364 219449364 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:219449364delT ENST00000273064.6 + 4 725 c.350delT c.(349-351)ctfs p.L117fs RQCD1_ENST00000295701.5_Frame_Shift_Del_p.L117fs|RQCD1_ENST00000542068.1_Frame_Shift_Del_p.L117fs|RQCD1_ENST00000509807.2_Frame_Shift_Del_p.L117fs NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 117 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACATCCCACTTTTTTTGTAC 0.413 7 1391 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000435575.1_Intron NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 11 1237 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 11 548 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 11 718 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400639 195400641 + RNA DEL GTG GTG - rs145880653 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr3:195400639_195400641delGTG ENST00000445430.1 + 0 1284 AGGTGGGCTTGTGGAGGAATGGG 0.552 8 71 --- --- --- --- AC024560.3 0 broad.mit.edu 37 3 197346770 197346771 + RNA INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr3:197346770_197346771insA ENST00000418868.1 - 0 685 NR_003266.2 CTAAAAGAAAGAAAAAAAAAGG 0.406 9 154 --- --- --- --- KLF3 51274 broad.mit.edu 37 4 38691476 38691476 + Frame_Shift_Del DEL C C - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr4:38691476delC ENST00000261438.5 + 4 976 c.671delC c.(670-672)tcfs p.S224fs KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 224 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 AACTCAGTGTCCCCCCCGCAA 0.423 7 914 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr4:56336954delA ENST00000309964.4 - 7 618 c.368delT c.(367-369)tafs p.L123fs CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 123 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.L123fs*1(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CATGATTGCTAAAAAAAAACC 0.289 13 456 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 15 350 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 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) gtactcctcttcctcctcctcct 0.606 10 565 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 10 562 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129864163 129864163 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr4:129864163delT ENST00000281142.5 - 17 2123 c.1620delA c.(1618-1620)aafs p.K540fs SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 540 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TTACTTTGGCTTTTTTTTGAG 0.353 10 572 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 650 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATGAggtggcggtggtggtggtg 0.522 9 495 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32089076 32089076 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr5:32089076delA ENST00000438447.1 + 20 5910 c.5522delA c.(5521-5523)cafs p.Q1841fs PDZD2_ENST00000282493.3_Frame_Shift_Del_p.Q1841fs O15018 PDZD2_HUMAN PDZ domain containing 2 1841 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.V1845fs*6(1) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGTTCAAGCCAAAAAAAGGGC 0.478 8 576 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 7 543 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 22 92 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 7 1506 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801633 137801635 + In_Frame_Del DEL CAG CAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr5:137801633_137801635delCAG ENST00000239938.4 + 1 455_457 c.183_185delCAG c.(181-186)aac>aa p.NS61del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 61 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.700 8 285 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 9 74 --- --- --- --- BNIP1 662 broad.mit.edu 37 5 172578611 172578611 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr5:172578611delT ENST00000231668.9 + 3 324 c.220delT c.(220-222)ttfs p.F76fs BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 59 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGCTTCCACATTTTTTTTTAA 0.348 15 500 --- --- --- --- CANX 821 broad.mit.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr5:179149920delT ENST00000247461.4 + 11 1498 c.1298delT c.(1297-1299)atfs p.I433fs CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs|CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 433 SDI -> LTF (in Ref. 9; AAA35696). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTCTGACATTTTTTTTGAC 0.423 9 542 --- --- --- --- BTNL8 79908 broad.mit.edu 37 5 180374580 180374580 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr5:180374580delT ENST00000231229.4 + 4 976 c.742delT c.(742-744)ttfs p.F249fs BTNL8_ENST00000511704.1_Frame_Shift_Del_p.F133fs|BTNL8_ENST00000400707.3_Frame_Shift_Del_p.F124fs|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.F249fs|BTNL8_ENST00000505126.1_Frame_Shift_Del_p.F42fs|BTNL8_ENST00000533815.2_Frame_Shift_Del_p.F65fs|BTNL8_ENST00000340184.4_Frame_Shift_Del_p.F249fs NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 249 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGTGGCCTATTTTTTGGCAT 0.448 7 1849 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 8 475 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327900 16327901 + In_Frame_Ins INS - - TGC rs66949327 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:16327900_16327901insTGC ENST00000244769.4 - 8 1577_1578 c.641_642insGCA c.(640-642)cca>cGCAca p.214_214P>RT ATXN1_ENST00000436367.1_In_Frame_Ins_p.214_214P>RT NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 214 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgctgctgctgctgatg 0.668 9 116 --- --- --- --- DEK 7913 broad.mit.edu 37 6 18264079 18264081 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:18264079_18264081delTCC ENST00000397239.3 - 2 585_587 c.138_140delGGA c.(136-141)gaa>ga p.EE46del DEK_ENST00000244776.7_In_Frame_Del_p.EE46del NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 46 Asp/Glu-rich (highly acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCACCTTTTtcctcctcctcct 0.532 T NUP214 AML 7 457 --- --- --- --- SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:25921520delT ENST00000377850.3 - 4 885 c.361delA c.(361-363)tgfs p.M121fs SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN solute carrier family 17, member 2 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.M121fs*7(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCACCAAGCATTTTTTTTGCT 0.453 10 470 --- --- --- --- HIST1H1A 3024 broad.mit.edu 37 6 26017448 26017448 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:26017448delT ENST00000244573.3 - 1 592 c.513delA c.(511-513)aafs p.K171fs NM_005325.3 NP_005316.1 Q02539 H11_HUMAN histone cluster 1, H1a 171 nucleosome assembly|spermatogenesis nucleosome|nucleus DNA binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1) 13 CAGTTTTGGGTTTTTTTGGAT 0.483 13 1694 --- --- --- --- OR2J2 26707 broad.mit.edu 37 6 29141422 29141422 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:29141422delA ENST00000377167.2 + 1 112 c.10delA c.(10-12)aafs p.K5fs NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 AATGATGATTAAAAAAAATGC 0.358 9 748 --- --- --- --- GABBR1 0 broad.mit.edu 37 6 29573436 29573438 + In_Frame_Del DEL CAG CAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:29573436_29573438delCAG ENST00000377034.4 - 20 2682_2684 c.2347_2349delCTG c.(2347-2349)del p.L783del GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 783 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.L783M(1) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGAAGATTCCCAGCAGCAGCAGC 0.512 8 565 --- --- --- --- HLA-G 3135 broad.mit.edu 37 6 29797196 29797196 + Splice_Site DEL C C - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:29797196delC ENST00000428701.1 + 5 799 c.619_splice c.e5-1 p.D207_splice HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Splice_Site_p.D207_splice|HLA-G_ENST00000376818.3_Splice_Site_p.N115_splice|HLA-G_ENST00000376828.2_Splice_Site_p.D212_splice NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 207 Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 TCCTTTCAGACCCCCCCAAGA 0.537 7 1125 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31973891 31973891 + RNA DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:31973891delT ENST00000342991.6 + 0 479 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 cttaaacaaattttttttttg 0.493 7 146 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 19 806 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc 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 8 1381 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86332353 86332354 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:86332353_86332354insT ENST00000355238.6 - 8 1060_1061 c.854_855insA c.(853-855)aagfs p.K285fs SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 285 RRM 2. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) AAAAGCCTCTGTTTTTTTTCTT 0.411 9 1111 --- --- --- --- GABRR1 2569 broad.mit.edu 37 6 89891719 89891721 + In_Frame_Del DEL AAG AAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:89891719_89891721delAAG ENST00000435811.1 - 7 1255_1257 c.801_803delCTT c.(799-804)ttg>tt p.FL267del GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del|GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 284 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGTTTGGAGCAAGAAGAAGAAGA 0.522 9 591 --- --- --- --- CASP8AP2 9994 broad.mit.edu 37 6 90556398 90556398 + RNA DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:90556398delT ENST00000551025.1 + 0 1492 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TCTAAtttccttttttttttt 0.418 10 66 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs p.K512fs SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_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 7 441 --- --- --- --- REPS1 85021 broad.mit.edu 37 6 139266690 139266690 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:139266690delT ENST00000450536.2 - 3 996 c.422delA c.(421-423)agfs p.K141fs REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs|REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs|REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 141 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TACGGATCCCTTTTTCACTTG 0.478 7 1294 --- --- --- --- SCAF8 22828 broad.mit.edu 37 6 155153620 155153620 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:155153620delT ENST00000367178.3 + 20 3483 c.2907delT c.(2905-2907)ccfs p.P969fs SCAF8_ENST00000367186.4_Frame_Shift_Del_p.P1035fs|SCAF8_ENST00000417268.1_Frame_Shift_Del_p.P969fs NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 969 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 CCCGTGGACCTTTTCCTCCAG 0.473 9 1262 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:72664015_72664016insG ENST00000425256.1 - 0 884_885 NR_002164.1 ATACCACCCCCGGGGCATGCCA 0.505 9 87 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74300804 74300804 + RNA DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:74300804delA ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CTTCATACTTAAAAAAAAAAA 0.458 7 52 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc 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 8 311 --- --- --- --- CYP51A1 1595 broad.mit.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:91752494delT ENST00000003100.8 - 7 1191 c.1026delA c.(1024-1026)aafs p.K342fs LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 336 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTAAATAACATTTTTTTTGAA 0.398 8 981 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97820131 97820132 + Frame_Shift_Del DEL AG AG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:97820131_97820132delAG ENST00000297293.5 + 10 1383_1384 c.1090_1091delAG c.(1090-1092)afs p.R364fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 364 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCAAGTCATTAGAGAGAGAGAC 0.495 9 1679 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCAGCTGCcctcctcctcctc 0.700 7 359 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100482040 100482042 + In_Frame_Del DEL AGG AGG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:100482040_100482042delAGG ENST00000388793.4 + 7 1029_1031 c.809_811delAGG c.(808-813)cag>c p.QE270del SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del|SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del|SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 270 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ATCCTGGAGCAGGAGGAGGAGGA 0.596 10 210 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332839 123332841 + In_Frame_Del DEL AGG AGG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:123332839_123332841delAGG ENST00000223023.4 - 9 1239_1241 c.907_909delCCT c.(907-909)del p.P303del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 303 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 p.P303A(1) 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 TTCCCCTagcaggaggaggagga 0.616 8 594 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 19 376 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 17 287 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 8 329 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del P11686 PSPC_HUMAN surfactant protein C 44 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTTCTTATCGTGGTGGTGGTGG 0.601 14 782 --- --- --- --- NUGGC 389643 broad.mit.edu 37 8 27888775 27888776 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr8:27888775_27888776insT ENST00000413272.2 - 15 2034_2035 c.1892_1893insA c.(1891-1893)attfs p.I631fs NUGGC_ENST00000341513.6_Frame_Shift_Ins_p.I631fs NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GGATCAGGAAATTTTTTTTGCA 0.455 8 1079 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37728933 37728933 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr8:37728933delT ENST00000330843.4 - 4 3399 c.3387delA c.(3385-3387)aafs p.K1129fs RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1129 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGCTGTGGCTTTTTTTTGAG 0.542 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 1359 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR 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 2244 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc 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 9 867 --- --- --- --- NBN 4683 broad.mit.edu 37 8 90967512 90967512 + Splice_Site DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr8:90967512delT ENST00000265433.3 - 10 1550 c.1397_splice c.e10+1 p.R466_splice NBN_ENST00000409330.1_Splice_Site_p.R384_splice NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 466 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) AAAACAGACCTTTTTTTGGTA 0.338 Homologous recombination 10 877 --- --- --- --- RUNX1T1 862 broad.mit.edu 37 8 92998419 92998419 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr8:92998419delT ENST00000523629.1 - 9 1666 c.1212delA c.(1210-1212)aafs p.K404fs RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 404 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGCCGCCACCTTTTTTTAAGT 0.517 8 860 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100654474 100654474 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr8:100654474delA ENST00000358544.2 + 34 5842 c.5731delA c.(5731-5733)aafs p.K1912fs VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.K1887fs NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1912 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCCTTCAGGGAAAAAAATAGG 0.458 7 863 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs 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 9 408 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20413952 20413952 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:20413952delT ENST00000380338.4 - 5 1178 c.892delA c.(892-894)ggfs p.R298fs MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) CTCTTTTTCCTTTTTTTGGCT 0.393 T MLL ALL 8 1097 --- --- --- --- EQTN 54586 broad.mit.edu 37 9 27296738 27296739 + Splice_Site INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:27296738_27296739insA ENST00000380032.3 - 2 160 c.e2-2 EQTN_ENST00000380031.1_Splice_Site|EQTN_ENST00000484994.1_5'UTR|EQTN_ENST00000537675.1_Splice_Site NM_020641.2 NP_065692.2 equatorin, sperm acrosome associated p.?(1) TAGGCAATGCTAAAAAAAAGTA 0.322 7 254 --- --- --- --- GRHPR 9380 broad.mit.edu 37 9 37424907 37424908 + Frame_Shift_Ins INS - - G rs150805048 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:37424907_37424908insG ENST00000607784.1 + 2 154_155 c.149_150insG c.(148-150)gggfs p.G50fs GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs Q9UBQ7 GRHPR_HUMAN glyoxylate reductase/hydroxypyruvate reductase 50 cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process peroxisomal matrix glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GBM - Glioblastoma multiforme(29;0.00687) CGAGGTGTGGCGGGGGCCCACG 0.658 7 370 --- --- --- --- RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:41962602delG ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373 7 267 --- --- --- --- NFIL3 4783 broad.mit.edu 37 9 94172779 94172779 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:94172779delT ENST00000297689.3 - 2 632 c.238delA c.(238-240)ggfs p.R81fs NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 81 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 TTTTTCCGCCTTTTTTCCCAA 0.423 8 1833 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 7 694 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 17 56 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109689690 109689690 + Frame_Shift_Del DEL C C - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:109689690delC ENST00000277225.5 + 3 3786 c.3497delC c.(3496-3498)tcfs p.S1166fs ZNF462_ENST00000441147.2_Frame_Shift_Del_p.S11fs|ZNF462_ENST00000457913.1_Frame_Shift_Del_p.S1166fs Q96JM2 ZN462_HUMAN zinc finger protein 462 1166 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCCCAAGGCTCCCCCCGGCCA 0.542 7 1199 --- --- --- --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T rs148250832 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:138715799_138715800insT ENST00000389532.4 - 10 1460_1461 c.1396_1397insA c.(1396-1398)cagfs p.Q466fs CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 466 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACTCACCTGGTTTTTTTTTCT 0.460 8 25 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 10 116 --- --- --- --- ST8SIA6 338596 broad.mit.edu 37 10 17363132 17363132 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:17363132delT ENST00000377602.4 - 8 1016 c.942delA c.(940-942)aafs p.K314fs NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 314 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 CAGTCACACCTTTAGTTCTCC 0.438 7 1415 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 12 308 --- --- --- --- SYNPO2L 79933 broad.mit.edu 37 10 75406948 75406948 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:75406948delA ENST00000394810.2 - 4 2611 c.2462delT c.(2461-2463)tcfs p.F821fs SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Frame_Shift_Del_p.F597fs NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 821 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) CGCCTGGGGGAAAAAGGGAGA 0.592 12 928 --- --- --- --- ZNF518A 9849 broad.mit.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:97918856delA ENST00000534948.1 + 0 3634 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) AATTCAGAACAAAAAAAAACT 0.348 8 299 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 7 1190 --- --- --- --- ADD3 120 broad.mit.edu 37 10 111893349 111893350 + Frame_Shift_Ins INS - - A rs149355298 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:111893349_111893350insA ENST00000277900.8 + 14 2363_2364 c.1998_1999insA c.(1996-2001)aaaaaafs p.KK666fs ADD3_ENST00000356080.4_Frame_Shift_Ins_p.KK698fs|ADD3_ENST00000360162.3_Frame_Shift_Ins_p.KK666fs NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 698 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton p.N698K(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) TGAAAAAGAACAAAAAAAAGGA 0.337 10 682 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 14 1592 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:6867223_6867225delTTC ENST00000299454.4 + 1 341_343 c.310_312delTTC c.(310-312)del p.F108del OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 8 839 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14063263 14063263 + RNA DEL A A - rs113227652 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:14063263delA ENST00000310358.7 + 0 1017 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) GATTGCAGGGAAAAAAAAAAA 0.423 18 137 --- --- --- --- CCDC73 493860 broad.mit.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:32635951delT ENST00000335185.5 - 16 1956 c.1913delA c.(1912-1914)atfs p.N638fs NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 638 p.N638fs*18(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TGGAACAGGATTTTTTTTTAT 0.313 7 237 --- --- --- --- PHF21A 51317 broad.mit.edu 37 11 46001356 46001358 + In_Frame_Del DEL GTG GTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:46001356_46001358delGTG ENST00000257821.4 - 6 936_938 c.313_315delCAC c.(313-315)del p.H105del PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del|PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 105 Gln-rich. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 actgctgggcgtggtggtggtgg 0.488 7 410 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_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 7 1393 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:63525788delT ENST00000354497.4 + 4 634 c.570delT c.(568-570)gcfs p.A190fs RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000341307.2_3'UTR NM_001265591.1 NP_001252520.1 O95197 RTN3_HUMAN reticulon 3 0 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CATTCCAAGCTTTTTTTTTAA 0.348 7 253 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000529259.1_3'UTR NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 13 848 --- --- --- --- NDUFV1 4723 broad.mit.edu 37 11 67376194 67376195 + Splice_Site DEL GT GT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:67376194_67376195delGT ENST00000322776.6 + 3 479 c.e3+1 NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000526169.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000532303.1_Splice_Site NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) CAGATGGCAGGTGTGTGTGTGG 0.599 7 604 --- --- --- --- ATG16L2 89849 broad.mit.edu 37 11 72528863 72528865 + In_Frame_Del DEL AGG AGG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:72528863_72528865delAGG ENST00000321297.5 + 3 419_421 c.281_283delAGG c.(280-285)cag>c p.QE94del ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del NM_033388.1 NP_203746.1 Q8NAA4 A16L2_HUMAN autophagy related 16-like 2 (S. cerevisiae) 94 autophagy|protein transport cytoplasm protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) GTGAAGTGGCAGGAGGAGGAGGA 0.591 7 262 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89405323 89405326 + RNA DEL TTTA TTTA - rs34562444 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:89405323_89405326delTTTA 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 aattatattgtttatttatttttg 0.230 13 27 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 13 835 --- --- --- --- C1QTNF5 114902 broad.mit.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:119210189_119210190insC ENST00000445041.2 - 15 3378_3379 c.583_584insG c.(583-585)catfs p.H195fs MFRP_ENST00000555262.1_3'UTR|C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|MFRP_ENST00000530681.1_3'UTR|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 8 494 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc 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 7 254 --- --- --- --- NFRKB 4798 broad.mit.edu 37 11 129752496 129752496 + Frame_Shift_Del DEL T T - rs149369172 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:129752496delT ENST00000446488.3 - 9 1035 c.932delA c.(931-933)agfs p.K311fs NFRKB_ENST00000524746.1_Frame_Shift_Del_p.K311fs|NFRKB_ENST00000524794.1_Frame_Shift_Del_p.K336fs|NFRKB_ENST00000304521.5_Frame_Shift_Del_p.K311fs 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) TTCCTTAACCTTTTTTTTAAG 0.438 7 650 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 10 336 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 9 49 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGTTCTCCTTTCTCTCTCTCTC 0.446 15 1037 --- --- --- --- OR6C74 254783 broad.mit.edu 37 12 55641157 55641157 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:55641157delT ENST00000343870.4 + 1 176 c.86delT c.(85-87)ctfs p.L29fs NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TTTCTTCTCCTTTTTTTCACC 0.378 8 860 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 12 913 --- --- --- --- MYO1A 4640 broad.mit.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:57422573delT ENST00000442789.2 - 29 3385 c.3098delA c.(3097-3099)agfs p.K1033fs MYO1A_ENST00000300119.3_Frame_Shift_Del_p.K1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Del_p.K871fs|TAC3_ENST00000415231.1_5'UTR NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 1033 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.?(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 ATGACTCCCCTTTTTTTTGTA 0.557 10 627 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88524078 88524079 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:88524078_88524079insT ENST00000552810.1 - 9 978_979 c.635_636insA c.(634-636)atafs p.I212fs CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 212 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TAAGCTCATAGTTTTTTTTAGA 0.317 7 922 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc 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 17 1220 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs 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 1333 --- --- --- --- SBNO1 55206 broad.mit.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:123794283delT ENST00000420886.2 - 25 3415 c.3416delA c.(3415-3417)atfs p.N1139fs SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1139 ATP binding|DNA binding|hydrolase activity p.N1138fs*9(1) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATATCTTCCATTTTTTTTGGC 0.388 9 648 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46549613 46549614 + Frame_Shift_Del DEL CT CT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr13:46549613_46549614delCT ENST00000242848.4 - 12 2620_2621 c.2272_2273delAG c.(2272-2274)gfs p.R758fs ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R758fs Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 758 Arg/Glu-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ctctctctccctctctctctct 0.530 8 494 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 12 355 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21961060 21961062 + In_Frame_Del DEL GCT GCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr14:21961060_21961062delGCT ENST00000405508.1 + 8 1561_1563 c.1285_1287delGCT c.(1285-1287)del p.A434del TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del O94842 TOX4_HUMAN TOX high mobility group box family member 4 434 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCAGCAGCAGCTGCTGCTGCTG 0.581 7 1263 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23528502 23528503 + Frame_Shift_Del DEL TC TC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr14:23528502_23528503delTC ENST00000262710.1 - 19 4207_4208 c.3880_3881delGA c.(3880-3882)afs p.E1294fs ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1294 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ccgctccctttctctctctctc 0.629 OREG0022595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 424 --- --- --- --- PSMA6 5687 broad.mit.edu 37 14 35782216 35782216 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr14:35782216delA ENST00000261479.4 + 5 659 c.539delA c.(538-540)gafs p.E180fs PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 180 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) AGCTTCCTTGAAAAAAAAGTG 0.403 10 1008 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 8 882 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 8 880 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 9 1291 --- --- --- --- IGHV3-38 0 broad.mit.edu 37 14 106866725 106866726 + RNA DEL CC CC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr14:106866725_106866726delCC ENST00000390618.2 - 0 124 CACAGAGACACCAAGGTCAGAA 0.520 7 1020 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 7 271 --- --- --- --- EIF2AK4 440275 broad.mit.edu 37 15 40282508 40282508 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr15:40282508delT ENST00000263791.5 + 16 2604 c.2561delT c.(2560-2562)atfs p.I854fs EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 854 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCTGTCAACATTTTTTTGGAT 0.358 7 1236 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 9 310 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93545433 93545434 + Frame_Shift_Ins INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr15:93545433_93545434insA ENST00000394196.4 + 33 5232_5233 c.4164_4165insA c.(4162-4167)ataaaafs p.IK1388fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1388 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAGTCCAATgaaaaaaaaaca 0.337 32 812 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 7 189 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 7 532 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 7 756 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 9 5065 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 9 139 --- --- --- --- FAM57B 83723 broad.mit.edu 37 16 30036942 30036942 + Frame_Shift_Del DEL G G - rs140294527 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:30036942delG ENST00000564806.1 - 3 540 c.495delC c.(493-495)ccfs p.P165fs FAM57B_ENST00000279389.4_Intron|FAM57B_ENST00000380495.4_Intron Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 0 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 CACGGGGTGAGGGGGGGATGA 0.632 7 466 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc 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 7 561 --- --- --- --- TOX3 27324 broad.mit.edu 37 16 52473513 52473515 + In_Frame_Del DEL TGC TGC - rs71819850 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:52473513_52473515delTGC ENST00000219746.9 - 7 1637_1639 c.1353_1355delGCA c.(1351-1356)caa>ca p.QQ453del TOX3_ENST00000407228.3_In_Frame_Del_p.QQ448del NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 453 Gln-rich. apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 ctgttgttgttgctgctgctgct 0.552 8 146 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del 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 12 770 --- --- --- --- CMTM1 113540 broad.mit.edu 37 16 66603930 66603930 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:66603930delT ENST00000379500.2 + 2 591 c.524delT c.(523-525)gtfs p.V175fs CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000528324.1_Frame_Shift_Del_p.V58fs|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Del_p.V58fs|CMTM1_ENST00000535705.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Del_p.V175fs NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 58 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) TGCATTGTCGTTTTTTTTATT 0.348 8 1128 --- --- --- --- NPIPB15 440348 broad.mit.edu 37 16 74425400 74425402 + In_Frame_Del DEL CAA CAA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:74425400_74425402delCAA ENST00000429990.1 + 7 850_852 c.754_756delCAA c.(754-756)del p.Q253del nuclear pore complex interacting protein family, member B15 TCCTCCAACTCAACAACATTCTA 0.517 12 675 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 14 614 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 7 729 --- --- --- --- MYBBP1A 10514 broad.mit.edu 37 17 4442801 4442801 + Frame_Shift_Del DEL T T - rs78578064 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr17:4442801delT ENST00000254718.4 - 26 4202 c.3896delA c.(3895-3897)agfs p.K1299fs MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.K1299fs Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 1299 Required for nuclear and nucleolar localization (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 CAGCCTTGCCTTTTTCCGTGC 0.582 9 1679 --- --- --- --- KSR1 8844 broad.mit.edu 37 17 25910015 25910016 + Frame_Shift_Ins INS - - C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr17:25910015_25910016insC ENST00000398988.3 + 5 898_899 c.453_454insC c.(451-456)acccccfs p.TP151fs KSR1_ENST00000319524.6_Frame_Shift_Ins_p.TP288fs|KSR1_ENST00000509603.2_Frame_Shift_Ins_p.TP288fs|KSR1_ENST00000268763.6_Frame_Shift_Ins_p.TP151fs NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 286 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.P292fs*22(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CACCACGGACGCCCCCCCCACC 0.678 8 116 --- --- --- --- MLLT6 4302 broad.mit.edu 37 17 36873776 36873777 + Frame_Shift_Ins INS - - C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr17:36873776_36873777insC ENST00000325718.7 + 11 1834_1835 c.1743_1744insC c.(1741-1746)ggccccfs p.GP581fs CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 581 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) GCCTCCTGGGGCCCCCAGGGAC 0.653 T MLL AL 15 417 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028117 55028118 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr17:55028117_55028118insT ENST00000240316.4 - 2 519_520 c.485_486insA c.(484-486)aaafs p.K162fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 162 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) TTTTTCTCTTGTTTTTTTTGCT 0.366 18 973 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 9 104 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 8 1105 --- --- --- --- ZNF236 7776 broad.mit.edu 37 18 74593429 74593430 + Frame_Shift_Ins INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr18:74593429_74593430insA ENST00000253159.8 + 9 1570_1571 c.1372_1373insA c.(1372-1374)aaafs p.K458fs ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 458 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GGATAAAAAAGAAAAAAAAATG 0.381 8 374 --- --- --- --- UBXN6 80700 broad.mit.edu 37 19 4454085 4454085 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:4454085delT ENST00000301281.6 - 2 213 c.89delA c.(88-90)agfs p.K30fs UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 30 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 TTTGTGGGCCTTTTCCCTGGG 0.667 8 1208 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:9361741delT ENST00000456448.1 + 1 136 c.22delT c.(22-24)ttfs p.F11fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCCAATTCTCTTTTTTTTTTT 0.388 11 79 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc 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 11 978 --- --- --- --- ELAVL3 1995 broad.mit.edu 37 19 11577605 11577605 + Frame_Shift_Del DEL C C - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:11577605delC ENST00000359227.3 - 2 471 c.47delG c.(46-48)gcfs p.G16fs CTC-398G3.6_ENST00000585656.1_Frame_Shift_Del_p.G170fs|ELAVL3_ENST00000438662.2_Frame_Shift_Del_p.G16fs NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 16 cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 gccggccgggcccccccccAC 0.652 7 135 --- --- --- --- ZNF563 147837 broad.mit.edu 37 19 12430217 12430217 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:12430217delA ENST00000293725.5 - 4 827 c.622delT c.(622-624)ggfs p.W208fs ZNF563_ENST00000595977.1_Intron NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AAACTGGGCCAAAAAAAAGCT 0.393 11 979 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 7 965 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 12 155 --- --- --- --- ZFP36 7538 broad.mit.edu 37 19 39898948 39898950 + In_Frame_Del DEL CAC CAC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:39898948_39898950delCAC ENST00000597629.1 + 2 682_684 c.608_610delCAC c.(607-612)tca>t p.SP203del ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del P26651 TTP_HUMAN ZFP36 ring finger protein 197 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGCCGGACCTCACCACCACCACC 0.685 8 1704 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 7 167 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 12 977 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 19 410 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc 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 11 408 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54649671 54649671 + Frame_Shift_Del DEL T T - rs36665 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:54649671delT ENST00000406403.1 + 8 2332 c.729delT c.(727-729)ccfs p.P244fs CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs|CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 244 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCACCTCCCCTCCCAGCCACA 0.632 8 574 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del 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) 12 415 --- --- --- --- PANK2 80025 broad.mit.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr20:3893120delT ENST00000497424.1 + 4 689 c.378delT c.(376-378)acfs p.T126fs PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR 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 7 1438 --- --- --- --- GINS1 9837 broad.mit.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr20:25422397delA ENST00000262460.4 + 6 601 c.507delA c.(505-507)ttfs p.L169fs GINS1_ENST00000429262.2_3'UTR NM_021067.3 NP_066545.3 Q14691 PSF1_HUMAN GINS complex subunit 1 (Psf1 homolog) 169 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm p.N172fs*14(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 CAGTCCTATTAAAAAAAAATA 0.299 7 396 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gca>gc p.AG104del FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del|FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 8 598 --- --- --- --- ITSN1 6453 broad.mit.edu 37 21 35190622 35190622 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr21:35190622delA ENST00000381318.3 + 23 3067 c.2779delA c.(2779-2781)aafs p.K928fs ITSN1_ENST00000437442.2_Frame_Shift_Del_p.K923fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.K923fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.K923fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.K886fs|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.K928fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.K923fs|ITSN1_ENST00000399326.3_Frame_Shift_Del_p.K923fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.K928fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.K928fs|ITSN1_ENST00000379960.5_Intron NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 928 SH3 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TTGGAGAGCCAAAAAAGACAA 0.433 7 568 --- --- --- --- ZC3H7B 23264 broad.mit.edu 37 22 41753399 41753401 + In_Frame_Del DEL CTG CTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr22:41753399_41753401delCTG ENST00000352645.4 + 23 3157_3159 c.2900_2902delCTG c.(2899-2904)cct>c p.PA967del ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 983 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCAGAAGCCCCTGCTGCTGCTGC 0.650 7 904 --- --- --- --- VCX3B 0 broad.mit.edu 37 X 8434288 8434288 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chrX:8434288delA ENST00000381032.1 + 3 912 c.605delA c.(604-606)gafs p.E202fs VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Frame_Shift_Del_p.E170fs|VCX3B_ENST00000444481.1_Frame_Shift_Del_p.E172fs|VCX3B_ENST00000440654.2_Frame_Shift_Del_p.E152fs NM_001001888.3 NP_001001888.3 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B 202 11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P. nucleolus NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3) 11 CAGGTGGAGGAACCACTGAGT 0.567 9 2528 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chrX:54578339_54578341delGAA ENST00000336470.4 + 12 1252_1254 c.1113_1115delGAA c.(1111-1116)ggg>gg p.GK371del GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 371 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 ACCGTTTGGGGAAGAAGAAGAAG 0.557 10 531 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360589 70360591 + In_Frame_Del DEL AGC AGC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc 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_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_In_Frame_Del_p.EQ2050del 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 7 763 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chrX:70360680_70360682delGCA ENST00000333646.6 + 42 6448_6450 c.6249_6251delGCA c.(6247-6252)cgg>cg p.RQ2083del MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2080 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) accacatccggcagcagcagcag 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 7 366 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chrX:76907782_76907784delTCC ENST00000373344.5 - 15 4591_4593 c.4377_4379delGGA c.(4375-4380)gaa>ga p.EE1463del ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR 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 13 841 --- --- --- --- PCDH19 57526 broad.mit.edu 37 X 99662505 99662505 + Frame_Shift_Del DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chrX:99662505delG ENST00000373034.4 - 1 2766 c.1091delC c.(1090-1092)cgfs p.P364fs PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 364 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P364fs*4(1) breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CACGTAGCCCGGGGGGGCGCT 0.607 7 568 --- --- --- --- USP26 83844 broad.mit.edu 37 X 132160788 132160788 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chrX:132160788delA ENST00000511190.1 - 6 1930 c.1461delT c.(1459-1461)ttfs p.F487fs USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 487 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.G488fs*6(2)|p.F487fs*7(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CTTCTGCTCCAAAAAAAAGAT 0.383 18 1447 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chrX:135314194delG ENST00000316077.9 - 8 1142 c.922delC c.(922-924)agfs p.Q308fs MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) ACATTCACCTGGGGGGGTGCA 0.532 11 2019 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 8 846 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 16 677 --- --- --- --- AHDC1 27245 broad.mit.edu 37 1 27875353 27875355 + In_Frame_Del DEL AGG AGG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:27875353_27875355delAGG ENST00000374011.2 - 6 4240_4242 c.3272_3274delCCT c.(3271-3276)ttc>t p.SF1091del AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del 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 10 262 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 9 1418 --- --- --- --- PABPC4 8761 broad.mit.edu 37 1 40028016 40028016 + Frame_Shift_Del DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:40028016delG ENST00000372857.3 - 13 2485 c.1693delC c.(1693-1695)agfs p.Q565fs PABPC4_ENST00000372856.3_Frame_Shift_Del_p.Q552fs|PABPC4_ENST00000372858.3_Frame_Shift_Del_p.Q581fs|PABPC4_ENST00000372862.3_Frame_Shift_Del_p.Q536fs NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 565 PABC. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTCTGTTCCTGGGGGGGTGCT 0.602 7 691 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 8 1306 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 8 186 --- --- --- --- CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - rs3217269 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:85039999_85040007delGCAGCGCCA ENST00000370630.4 - 1 140_148 c.92_100delTGGCGCTGC c.(91-102)cgg>c p.LALR31del CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 31 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.718 10 33 --- --- --- --- GBP2 2634 broad.mit.edu 37 1 89587526 89587528 + In_Frame_Del DEL CCA CCA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:89587526_89587528delCCA ENST00000370466.3 - 2 390_392 c.122_124delTGG c.(121-126)gcg>g p.VA41del NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 41 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) CCCACAATCGCCACCACCACCAC 0.527 7 675 --- --- --- --- EPS8L3 79574 broad.mit.edu 37 1 110300579 110300580 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:110300579_110300580insT ENST00000369805.3 - 9 1050_1051 c.821_822insA c.(820-822)aaafs p.K274fs RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 273 cytoplasm protein binding p.N274fs*33(2) breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CCTGGTCCTTGTTTTTTTTCCC 0.545 9 784 --- --- --- --- SLC16A4 9122 broad.mit.edu 37 1 110906427 110906427 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:110906427delA ENST00000369779.4 - 9 1674 c.1425delT c.(1423-1425)ttfs p.F475fs SLC16A4_ENST00000472422.2_Frame_Shift_Del_p.F427fs|SLC16A4_ENST00000541986.1_Frame_Shift_Del_p.F413fs|SLC16A4_ENST00000437429.2_Frame_Shift_Del_p.L372fs|SLC16A4_ENST00000369781.4_Frame_Shift_Del_p.F307fs NM_001201547.1|NM_004696.2 NP_001188476.1|NP_004687.1 O15374 MOT5_HUMAN solute carrier family 16, member 4 475 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity p.F475fs*12(1) breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) CCAATGGTACAAAAAAAAAGG 0.388 19 566 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 7 1497 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 13 163 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 10 68 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210446 143210446 + RNA DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:143210446delT ENST00000412204.2 - 0 624 RP11-782C8.1_ENST00000438000.1_lincRNA GTCCATATACTAAAAAGGTTA 0.284 8 113 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 13 130 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145115659 145115666 + RNA DEL ATTTTTAA ATTTTTAA - rs11278959 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:145115659_145115666delATTTTTAA ENST00000453618.1 + 0 820 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CATTTTGGTTATTTTTAATGCCTTAATA 0.327 71 234 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 9 964 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 17 492 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155307999 155308000 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:155307999_155308000insT ENST00000368346.3 - 27 9337_9338 c.8698_8699insA c.(8698-8700)agafs p.R2900fs ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.R2895fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2900 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.T2895fs*44(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ACTTTCCTCTGTTTTTTTTTCA 0.520 36 876 --- --- --- --- NR1I3 0 broad.mit.edu 37 1 161202999 161203000 + Frame_Shift_Ins INS - - G rs139473535 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:161202999_161203000insG ENST00000367983.4 - 4 661_662 c.367_368insC c.(367-369)ccafs p.P123fs NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCATGTGGCGGGTGTGGGCC 0.564 9 1634 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCATCAAATCTAAAAGAAAAAA 0.381 14 374 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 185880816 185880816 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:185880816delA ENST00000271588.4 + 6 1033 c.804delA c.(802-804)atfs p.I268fs HMCN1_ENST00000367492.2_Frame_Shift_Del_p.I268fs NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 268 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGAAGCTGATAAAAAAGGGAT 0.388 7 1277 --- --- --- --- GPR25 2848 broad.mit.edu 37 1 200842776 200842778 + In_Frame_Del DEL TGC TGC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:200842776_200842778delTGC ENST00000304244.2 + 1 694_696 c.611_613delTGC c.(610-615)ttg>t p.LL208del NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 208 Poly-Leu. integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 GGCCTCAGCTTGCTGCTGCTGCT 0.724 10 196 --- --- --- --- ARV1 64801 broad.mit.edu 37 1 231131567 231131567 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:231131567delA ENST00000310256.2 + 4 567 c.510delA c.(508-510)gcfs p.A170fs ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs|ARV1_ENST00000497753.1_3'UTR NM_022786.1 NP_073623.1 Q9H2C2 ARV1_HUMAN ARV1 homolog (S. cerevisiae) 170 sphingolipid metabolic process integral to membrane breast(3)|large_intestine(2)|lung(2) 7 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233) CCATGACGGCAAAAAAAAAGC 0.383 13 433 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 18 460 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 9 853 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 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 CATTTTGTCTTCCTCCTCCTCCT 0.542 7 875 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39213243 39213243 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 8 589 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 16 1076 --- --- --- --- SLC4A5 57835 broad.mit.edu 37 2 74451994 74451994 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:74451994delT ENST00000394019.2 - 28 3616 c.3219delA c.(3217-3219)aafs p.K1073fs SLC4A5_ENST00000377632.1_Frame_Shift_Del_p.K992fs|SLC4A5_ENST00000377634.4_Frame_Shift_Del_p.K1089fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Frame_Shift_Del_p.K971fs|SLC4A5_ENST00000358683.4_Frame_Shift_Del_p.K971fs|SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000357822.5_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Frame_Shift_Del_p.K992fs NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1089 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CGTGGGCCCCTTTTTTTCTCT 0.517 8 1233 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95522922 95522924 + RNA DEL ACT ACT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:95522922_95522924delACT ENST00000432432.2 - 0 103_105 NR_040113.1 CATGGCGGTGACTACTTCTCAGA 0.655 8 368 --- --- --- --- SEPT10 151011 broad.mit.edu 37 2 110301827 110301828 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:110301827_110301828insT ENST00000356688.4 - 12 1821_1822 c.1506_1507insA c.(1504-1509)aatagafs p.NR502fs SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000437928.1_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 8 291 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 7 465 --- --- --- --- ERCC3 2071 broad.mit.edu 37 2 128046944 128046946 + In_Frame_Del DEL TCT TCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:128046944_128046946delTCT ENST00000493187.2 - 6 1060_1062 c.597_599delAGA c.(595-600)gag>ga p.EE199del ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 263 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGTCTGTGTCTCTTCTTCTTCTT 0.473 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 8 346 --- --- --- --- SAP130 79595 broad.mit.edu 37 2 128712656 128712656 + Frame_Shift_Del DEL C C - rs112429524 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:128712656delC ENST00000357702.5 - 16 2535 c.2404delG c.(2404-2406)tgfs p.V802fs SAP130_ENST00000259234.6_Frame_Shift_Del_p.V775fs|SAP130_ENST00000259235.3_Frame_Shift_Del_p.V767fs NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 767 Pro-rich. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CTGCCACCCACAGTGACTGAT 0.532 41 453 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 12 483 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 7 87 --- --- --- --- BZW1 9689 broad.mit.edu 37 2 201683504 201683505 + Frame_Shift_Ins INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:201683504_201683505insA ENST00000409600.1 + 9 1301_1302 c.846_847insA c.(844-849)ataaaafs p.IK282fs BZW1_ENST00000409226.1_Frame_Shift_Ins_p.IK286fs|BZW1_ENST00000452790.2_Frame_Shift_Ins_p.IK314fs NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 282 W2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 AGGAGGAGATGAAAAAAAACAA 0.371 7 280 --- --- --- --- NBEAL1 65065 broad.mit.edu 37 2 204000806 204000807 + Frame_Shift_Ins INS - - TG TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:204000806_204000807insTG ENST00000449802.1 + 27 4466_4467 c.4133_4134insTG c.(4132-4134)agafs p.R1378fs NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1378 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CTCAGTGGAATTGACTCATGTG 0.436 28 371 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 16 195 --- --- --- --- AAMP 14 broad.mit.edu 37 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:219134766delG ENST00000248450.4 - 1 214 c.44delC c.(43-45)cafs p.P15fs AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs Q13685 AAMP_HUMAN angio-associated, migratory cell protein 15 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding p.L16fs*9(1) haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCTCCAGTGGGGGGGTGTC 0.617 11 2583 --- --- --- --- RQCD1 9125 broad.mit.edu 37 2 219449364 219449364 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr2:219449364delT ENST00000273064.6 + 4 725 c.350delT c.(349-351)ctfs p.L117fs RQCD1_ENST00000295701.5_Frame_Shift_Del_p.L117fs|RQCD1_ENST00000509807.2_Frame_Shift_Del_p.L117fs|RQCD1_ENST00000542068.1_Frame_Shift_Del_p.L117fs NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 117 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACATCCCACTTTTTTTGTAC 0.413 7 1391 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679486 42679486 + Frame_Shift_Del DEL A A - rs150528581 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr3:42679486delA ENST00000232978.8 + 13 2478 c.2290delA c.(2290-2292)aafs p.K765fs RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_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 7 572 --- --- --- --- LIMD1 8994 broad.mit.edu 37 3 45636543 45636545 + In_Frame_Del DEL CAG CAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr3:45636543_45636545delCAG ENST00000273317.4 + 1 193_195 c.172_174delCAG c.(172-174)del p.Q63del LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 63 Mediates nuclear export. cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) AATCCACCTCCAGCAGCAGCAGC 0.626 10 308 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 11 548 --- --- --- --- RBM15B 29890 broad.mit.edu 37 3 51430822 51430824 + In_Frame_Del DEL CCA CCA - rs147738916 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr3:51430822_51430824delCCA ENST00000323686.4 + 1 2092_2094 c.1992_1994delCCA c.(1990-1995)ggc>gg p.GH664del NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 664 His-rich. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGAACGGGGCCACCACCACCAC 0.635 7 299 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 12 380 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 16 1655 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 18 601 --- --- --- --- ABCC5 10057 broad.mit.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr3:183665257delA ENST00000334444.6 - 23 3509 c.3269delT c.(3268-3270)tgfs p.L1090fs ABCC5_ENST00000265586.6_Frame_Shift_Del_p.L1047fs NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1090 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ACACGTAAACAAAAAAAAAGG 0.532 11 166 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr3:186362544delA ENST00000265029.3 + 4 530 c.429delA c.(427-429)tcfs p.S143fs RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 143 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAACAGTTTCAAAAAAAAAGA 0.418 20 708 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400639 195400641 + RNA DEL GTG GTG - rs145880653 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr3:195400639_195400641delGTG ENST00000445430.1 + 0 1284 AGGTGGGCTTGTGGAGGAATGGG 0.552 8 71 --- --- --- --- AC024560.3 0 broad.mit.edu 37 3 197346770 197346771 + RNA INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr3:197346770_197346771insA ENST00000418868.1 - 0 685 NR_003266.2 CTAAAAGAAAGAAAAAAAAAGG 0.406 9 154 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 15 568 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr4:56336954delA ENST00000309964.4 - 7 618 c.368delT c.(367-369)tafs p.L123fs CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 123 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.L123fs*1(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CATGATTGCTAAAAAAAAACC 0.289 13 456 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 15 350 --- --- --- --- BMP2K 55589 broad.mit.edu 37 4 79792161 79792169 + In_Frame_Del DEL CAGCACCAC CAGCACCAC - rs2114202 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 7 423 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_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 8 922 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 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) gtactcctcttcctcctcctcct 0.606 10 565 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 17 39 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129864163 129864163 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr4:129864163delT ENST00000281142.5 - 17 2123 c.1620delA c.(1618-1620)aafs p.K540fs SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 540 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TTACTTTGGCTTTTTTTTGAG 0.353 10 572 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 8 377 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAACTGGCGTCCTCCTCCTCCT 0.527 8 984 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 7 543 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 7 1506 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801633 137801635 + In_Frame_Del DEL CAG CAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr5:137801633_137801635delCAG ENST00000239938.4 + 1 455_457 c.183_185delCAG c.(181-186)aac>aa p.NS61del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 61 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.700 8 285 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 9 74 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 14 1660 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 8 475 --- --- --- --- DEK 7913 broad.mit.edu 37 6 18264079 18264081 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:18264079_18264081delTCC ENST00000397239.3 - 2 585_587 c.138_140delGGA c.(136-141)gaa>ga p.EE46del DEK_ENST00000244776.7_In_Frame_Del_p.EE46del NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 46 Asp/Glu-rich (highly acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCACCTTTTtcctcctcctcct 0.532 T NUP214 AML 7 457 --- --- --- --- SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:25921520delT ENST00000377850.3 - 4 885 c.361delA c.(361-363)tgfs p.M121fs SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN solute carrier family 17, member 2 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.M121fs*7(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCACCAAGCATTTTTTTTGCT 0.453 10 470 --- --- --- --- HIST1H1A 3024 broad.mit.edu 37 6 26017448 26017448 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:26017448delT ENST00000244573.3 - 1 592 c.513delA c.(511-513)aafs p.K171fs NM_005325.3 NP_005316.1 Q02539 H11_HUMAN histone cluster 1, H1a 171 nucleosome assembly|spermatogenesis nucleosome|nucleus DNA binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1) 13 CAGTTTTGGGTTTTTTTGGAT 0.483 13 1694 --- --- --- --- OR2J2 26707 broad.mit.edu 37 6 29141422 29141422 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:29141422delA ENST00000377167.2 + 1 112 c.10delA c.(10-12)aafs p.K5fs NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 AATGATGATTAAAAAAAATGC 0.358 9 748 --- --- --- --- HLA-G 3135 broad.mit.edu 37 6 29797196 29797196 + Splice_Site DEL C C - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:29797196delC ENST00000428701.1 + 5 799 c.619_splice c.e5-1 p.D207_splice HLA-G_ENST00000360323.6_Splice_Site_p.D207_splice|HLA-G_ENST00000376828.2_Splice_Site_p.D212_splice|HLA-G_ENST00000376818.3_Splice_Site_p.N115_splice|HLA-G_ENST00000376815.3_Intron NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 207 Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 TCCTTTCAGACCCCCCCAAGA 0.537 7 1125 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31973891 31973891 + RNA DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:31973891delT ENST00000342991.6 + 0 479 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 cttaaacaaattttttttttg 0.493 7 146 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522379 32522380 + RNA INS - - C rs112115106 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:32522379_32522380insC ENST00000411500.1 - 0 740 NR_001298.1 TGAAAATAGGATTGGGAGAGTA 0.475 7 111 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34804004 34804006 + In_Frame_Del DEL CAG CAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:34804004_34804006delCAG ENST00000192788.5 + 8 1083_1085 c.912_914delCAG c.(910-915)aac>aa p.NS304del UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.NS304del NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 304 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GCAACAGCAACAGCAGCAGCAGC 0.552 7 1659 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 8 1381 --- --- --- --- KIAA1009 22832 broad.mit.edu 37 6 84896233 84896233 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:84896233delA ENST00000403245.3 - 12 1332 c.1218delT c.(1216-1218)ttfs p.F406fs KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 406 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATTTTTGTCAAAAAAAAGGT 0.358 13 742 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86332353 86332354 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:86332353_86332354insT ENST00000355238.6 - 8 1060_1061 c.854_855insA c.(853-855)aagfs p.K285fs SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 285 RRM 2. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) AAAAGCCTCTGTTTTTTTTCTT 0.411 9 1111 --- --- --- --- GRIK2 2898 broad.mit.edu 37 6 102503431 102503432 + Frame_Shift_Ins INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:102503431_102503432insA ENST00000369138.1 + 15 3028_3029 c.2538_2539insA c.(2536-2541)tcaaaafs p.SK846fs GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.SK770fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.SK797fs NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 846 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.N849fs*12(1)|p.N849fs*14(1) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TATACAAATCCAAAAAAAACGC 0.351 8 763 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs p.K512fs SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_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 7 441 --- --- --- --- REPS1 85021 broad.mit.edu 37 6 139266690 139266690 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:139266690delT ENST00000450536.2 - 3 996 c.422delA c.(421-423)agfs p.K141fs REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs|REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 141 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TACGGATCCCTTTTTCACTTG 0.478 7 1294 --- --- --- --- PHACTR2 9749 broad.mit.edu 37 6 144086413 144086414 + Frame_Shift_Ins INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:144086413_144086414insA ENST00000427704.2 + 6 807_808 c.677_678insA c.(676-678)taafs p.*226fs PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.*214fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.*237fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.*146fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.*157fs NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 226 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TCCTCTCATTCAAAAAAAACAA 0.396 12 757 --- --- --- --- SCAF8 22828 broad.mit.edu 37 6 155153620 155153620 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr6:155153620delT ENST00000367178.3 + 20 3483 c.2907delT c.(2905-2907)ccfs p.P969fs SCAF8_ENST00000417268.1_Frame_Shift_Del_p.P969fs|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.P1035fs NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 969 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 CCCGTGGACCTTTTCCTCCAG 0.473 9 1262 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2963941 2963943 + In_Frame_Del DEL GGA GGA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:2963941_2963943delGGA ENST00000396946.4 - 15 2267_2269 c.1864_1866delTCC c.(1864-1866)del p.S622del NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 622 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGATTGGTGGGAGGAGGAGGAG 0.616 Mis DLBCL 11 387 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 15 1067 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 7 175 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72040751 72040751 + RNA DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:72040751delA ENST00000438125.1 - 0 1399 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 ACATCCCTAGAAAAAAAAAAT 0.328 8 203 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:72664015_72664016insG ENST00000425256.1 - 0 884_885 NR_002164.1 ATACCACCCCCGGGGCATGCCA 0.505 9 87 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 7 438 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000307569.8_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 10 2312 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77569581 77569581 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:77569581delT ENST00000416283.2 + 12 1726 c.1600delT c.(1600-1602)ttfs p.F535fs PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GTGGATTTTCTTTTTTTTGCT 0.303 8 702 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100280978 100280980 + In_Frame_Del DEL CTG CTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr7:100280978_100280980delCTG ENST00000275732.5 - 18 3349_3351 c.2140_2142delCAG c.(2140-2142)del p.Q714del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 714 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCTGCTCCTCCTGCTGCTGCTGG 0.650 8 1284 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron P11686 PSPC_HUMAN surfactant protein C 44 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTTCTTATCGTGGTGGTGGTGG 0.601 14 782 --- --- --- --- TEX15 56154 broad.mit.edu 37 8 30695491 30695491 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr8:30695491delT ENST00000256246.2 - 3 7234 c.7160delA c.(7159-7161)agfs p.K2387fs NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2387 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CATTTCAACCTTTTTTGGCGT 0.388 8 1221 --- --- --- --- FGFR1 2260 broad.mit.edu 37 8 38285914 38285916 + In_Frame_Del DEL TCA TCA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr8:38285914_38285916delTCA ENST00000447712.2 - 4 1337_1339 c.396_398delTGA c.(394-399)gac>ga p.DD132del FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del|FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del|FGFR1_ENST00000341462.5_In_Frame_Del_p.DD135del|FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del|FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del|FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 132 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.D133N(3)|p.D44N(1) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TGAAGAGGAGtcatcatcatcat 0.498 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 8 228 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 9 867 --- --- --- --- PREX2 80243 broad.mit.edu 37 8 68992720 68992721 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr8:68992720_68992721insT ENST00000288368.4 + 16 1962_1963 c.1685_1686insT c.(1684-1686)cttfs p.L562fs PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 562 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CTACTTTTCCGTTTTTTTTCGG 0.332 7 308 --- --- --- --- C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr8:86129664delT ENST00000417663.2 - 2 136 c.65delA c.(64-66)acfs p.N22fs C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1 NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1 Q8N0T1 CH059_HUMAN chromosome 8 open reading frame 59 22 AGCCTTAAAGTTTTTTTGGCT 0.343 10 777 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100654474 100654474 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr8:100654474delA ENST00000358544.2 + 34 5842 c.5731delA c.(5731-5733)aafs p.K1912fs VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.K1887fs NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1912 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCCTTCAGGGAAAAAAATAGG 0.458 7 863 --- --- --- --- EQTN 54586 broad.mit.edu 37 9 27296738 27296739 + Splice_Site INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr9:27296738_27296739insA ENST00000380032.3 - 2 160 c.e2-2 EQTN_ENST00000537675.1_Splice_Site|EQTN_ENST00000380031.1_Splice_Site|EQTN_ENST00000484994.1_5'UTR NM_020641.2 NP_065692.2 equatorin, sperm acrosome associated p.?(1) TAGGCAATGCTAAAAAAAAGTA 0.322 7 254 --- --- --- --- RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr9:41962602delG ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373 7 267 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 22 75 --- --- --- --- ANKRD19P 0 broad.mit.edu 37 9 95599088 95599089 + RNA DEL CA CA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr9:95599088_95599089delCA ENST00000473204.1 + 0 1169_1170 TTCACGGGCGCACACACACACA 0.421 9 416 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 17 56 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109689690 109689690 + Frame_Shift_Del DEL C C - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr9:109689690delC ENST00000277225.5 + 3 3786 c.3497delC c.(3496-3498)tcfs p.S1166fs ZNF462_ENST00000457913.1_Frame_Shift_Del_p.S1166fs|ZNF462_ENST00000441147.2_Frame_Shift_Del_p.S11fs Q96JM2 ZN462_HUMAN zinc finger protein 462 1166 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCCCAAGGCTCCCCCCGGCCA 0.542 7 1199 --- --- --- --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T rs148250832 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr9:138715799_138715800insT ENST00000389532.4 - 10 1460_1461 c.1396_1397insA c.(1396-1398)cagfs p.Q466fs CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 466 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACTCACCTGGTTTTTTTTTCT 0.460 8 25 --- --- --- --- ST8SIA6 338596 broad.mit.edu 37 10 17363132 17363132 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr10:17363132delT ENST00000377602.4 - 8 1016 c.942delA c.(940-942)aafs p.K314fs NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 314 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 CAGTCACACCTTTAGTTCTCC 0.438 7 1415 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 11 582 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 12 308 --- --- --- --- ADD3 120 broad.mit.edu 37 10 111893349 111893350 + Frame_Shift_Ins INS - - A rs149355298 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr10:111893349_111893350insA ENST00000277900.8 + 14 2363_2364 c.1998_1999insA c.(1996-2001)aaaaaafs p.KK666fs ADD3_ENST00000356080.4_Frame_Shift_Ins_p.KK698fs|ADD3_ENST00000360162.3_Frame_Shift_Ins_p.KK666fs NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 698 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton p.N698K(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) TGAAAAAGAACAAAAAAAAGGA 0.337 10 682 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 12 860 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:6867223_6867225delTTC ENST00000299454.4 + 1 341_343 c.310_312delTTC c.(310-312)del p.F108del OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 8 839 --- --- --- --- PHF21A 51317 broad.mit.edu 37 11 46001356 46001358 + In_Frame_Del DEL GTG GTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:46001356_46001358delGTG ENST00000257821.4 - 6 936_938 c.313_315delCAC c.(313-315)del p.H105del PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del|PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 105 Gln-rich. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 actgctgggcgtggtggtggtgg 0.488 7 410 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 7 1393 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 13 848 --- --- --- --- ATG16L2 89849 broad.mit.edu 37 11 72528863 72528865 + In_Frame_Del DEL AGG AGG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:72528863_72528865delAGG ENST00000321297.5 + 3 419_421 c.281_283delAGG c.(280-285)cag>c p.QE94del ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del NM_033388.1 NP_203746.1 Q8NAA4 A16L2_HUMAN autophagy related 16-like 2 (S. cerevisiae) 94 autophagy|protein transport cytoplasm protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) GTGAAGTGGCAGGAGGAGGAGGA 0.591 7 262 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 13 835 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118773004 118773004 + Frame_Shift_Del DEL G G - rs147951163 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr11:118773004delG ENST00000334801.3 - 6 2412 c.1448delC c.(1447-1449)cgfs p.P483fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 483 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) ATGCTCCAGCGGGGGGCCCCC 0.642 7 1038 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 7 254 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 10 336 --- --- --- --- GPR19 2842 broad.mit.edu 37 12 12814274 12814274 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr12:12814274delT ENST00000540510.1 - 2 1301 c.1109delA c.(1108-1110)acfs p.N370fs GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs Q15760 GPR19_HUMAN G protein-coupled receptor 19 370 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) GCCAACGTAGTTTTTTTTGGC 0.398 9 854 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGTTCTCCTTTCTCTCTCTCTC 0.446 15 1037 --- --- --- --- OR6C74 254783 broad.mit.edu 37 12 55641157 55641157 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr12:55641157delT ENST00000343870.4 + 1 176 c.86delT c.(85-87)ctfs p.L29fs NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TTTCTTCTCCTTTTTTTCACC 0.378 8 860 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 12 913 --- --- --- --- TMBIM4 51643 broad.mit.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr12:66531936_66531937insA ENST00000358230.3 - 7 640_641 c.520_521insT c.(520-522)tagfs p.*174fs TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TATCTCACTATAAAAAAAAAAC 0.351 18 298 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs 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 1333 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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) 8 277 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000390680.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 8 327 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_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 10 641 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25517701 25517702 + RNA INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr13:25517701_25517702insT ENST00000429698.1 - 0 374 ACCATTTGCTATTTTTTTTTCT 0.426 10 564 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671097 25671098 + Frame_Shift_Ins INS - - T rs140090397 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr13:25671097_25671098insT ENST00000281589.3 + 1 798_799 c.761_762insT c.(760-762)agafs p.R254fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 254 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ATGAATGGAAAGGAGCTCAATG 0.401 28 753 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671273 25671273 + Frame_Shift_Del DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr13:25671273delG ENST00000281589.3 + 1 974 c.937delG c.(937-939)cgfs p.A313fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 313 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCTCCGGAAAGCGTTTTCTCC 0.408 29 2015 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 8 1431 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671804 25671806 + In_Frame_Del DEL GCT GCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr13:25671804_25671806delGCT ENST00000281589.3 + 1 1505_1507 c.1468_1470delGCT c.(1468-1470)del p.A496del NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 496 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ACGTCctgcagctgctgctgctg 0.532 8 507 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46549613 46549614 + Frame_Shift_Del DEL CT CT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr13:46549613_46549614delCT ENST00000242848.4 - 12 2620_2621 c.2272_2273delAG c.(2272-2274)gfs p.R758fs ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R758fs Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 758 Arg/Glu-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ctctctctccctctctctctct 0.530 8 494 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 320 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAATCTGTCAATTTTTTTTTCT 0.322 15 842 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr13:95696016delT ENST00000376887.4 - 29 3769 c.3655delA c.(3655-3657)tcfs p.I1219fs ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1219 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCTCCCGGATTTTTTTTTGT 0.378 12 649 --- --- --- --- KIAA0391 9692 broad.mit.edu 37 14 35592700 35592700 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr14:35592700delT ENST00000557565.1 + 2 630 c.249delT c.(247-249)cafs p.H83fs KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs O15091 MRRP3_HUMAN KIAA0391 83 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CTGTTCCTCATTTTTTTTTAG 0.423 7 291 --- --- --- --- DAAM1 23002 broad.mit.edu 37 14 59787235 59787237 + In_Frame_Del DEL GAA GAA - rs141935137 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr14:59787235_59787237delGAA ENST00000395125.1 + 4 396_398 c.373_375delGAA c.(373-375)del p.E129del DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del|DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 129 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) TTTAGAGAAGGAAGAAGAAGAAG 0.325 8 302 --- --- --- --- SNORA11 0 broad.mit.edu 37 14 70270921 70270922 + RNA INS - - T rs11429169 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr14:70270921_70270922insT ENST00000408133.1 - 0 126_127 CATGGATTCTCTTTTTTTTTTT 0.351 13 65 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 8 882 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93712186 93712188 + In_Frame_Del DEL TGC TGC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr14:93712186_93712188delTGC ENST00000334746.5 - 10 2873_2875 c.2566_2568delGCA c.(2566-2568)del p.A856del BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del|BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 856 Poly-Ala. breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCTTCTCAGAtgctgctgctgct 0.537 7 379 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 9 1291 --- --- --- --- IGHV3-38 0 broad.mit.edu 37 14 106866725 106866726 + RNA DEL CC CC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr14:106866725_106866726delCC ENST00000390618.2 - 0 124 CACAGAGACACCAAGGTCAGAA 0.520 7 1020 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 7 271 --- --- --- --- EIF2AK4 440275 broad.mit.edu 37 15 40282508 40282508 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr15:40282508delT ENST00000263791.5 + 16 2604 c.2561delT c.(2560-2562)atfs p.I854fs EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 854 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCTGTCAACATTTTTTTGGAT 0.358 7 1236 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 9 310 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 7 189 --- --- --- --- RAB40C 57799 broad.mit.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr16:677579_677580insC ENST00000535977.1 + 7 1025_1026 c.803_804insC c.(802-804)accfs p.T268fs RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000538492.1_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 8 414 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 7 532 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 9 1266 --- --- --- --- FAM57B 83723 broad.mit.edu 37 16 30036942 30036942 + Frame_Shift_Del DEL G G - rs140294527 by1000genomes TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr16:30036942delG ENST00000564806.1 - 3 540 c.495delC c.(493-495)ccfs p.P165fs FAM57B_ENST00000279389.4_Intron|FAM57B_ENST00000380495.4_Intron Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 0 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 CACGGGGTGAGGGGGGGATGA 0.632 7 466 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 7 561 --- --- --- --- TOX3 27324 broad.mit.edu 37 16 52473513 52473515 + In_Frame_Del DEL TGC TGC - rs71819850 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr16:52473513_52473515delTGC ENST00000219746.9 - 7 1637_1639 c.1353_1355delGCA c.(1351-1356)caa>ca p.QQ453del TOX3_ENST00000407228.3_In_Frame_Del_p.QQ448del NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 453 Gln-rich. apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 ctgttgttgttgctgctgctgct 0.552 8 146 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 9 319 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913786 67913788 + In_Frame_Del DEL AGC AGC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr16:67913786_67913788delAGC ENST00000358933.5 + 16 2094_2096 c.1855_1857delAGC c.(1855-1857)del p.S629del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 629 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) cagcagcggtagcagcagcagca 0.616 12 495 --- --- --- --- NPIPB15 440348 broad.mit.edu 37 16 74425400 74425402 + In_Frame_Del DEL CAA CAA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr16:74425400_74425402delCAA ENST00000429990.1 + 7 850_852 c.754_756delCAA c.(754-756)del p.Q253del nuclear pore complex interacting protein family, member B15 TCCTCCAACTCAACAACATTCTA 0.517 12 675 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 14 614 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 7 729 --- --- --- --- MYBBP1A 10514 broad.mit.edu 37 17 4442801 4442801 + Frame_Shift_Del DEL T T - rs78578064 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:4442801delT ENST00000254718.4 - 26 4202 c.3896delA c.(3895-3897)agfs p.K1299fs MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.K1299fs Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 1299 Required for nuclear and nucleolar localization (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 CAGCCTTGCCTTTTTCCGTGC 0.582 9 1679 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:7801857_7801859delAAG ENST00000380358.4 + 13 2273_2275 c.2272_2274delAAG c.(2272-2274)del p.K762del CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 703 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CCGCAAGTATAAGAAGAAGAAGA 0.488 13 358 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 8 441 --- --- --- --- WDR16 146845 broad.mit.edu 37 17 9503387 9503389 + In_Frame_Del DEL GAT GAT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:9503387_9503389delGAT ENST00000352665.5 + 6 709_711 c.640_642delGAT c.(640-642)del p.D217del WDR16_ENST00000299764.5_In_Frame_Del_p.D227del|WDR16_ENST00000396219.3_In_Frame_Del_p.D149del NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 217 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 TCTTCAGGTGGATGATGATGATA 0.502 8 998 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 13 239 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 8 582 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 7 370 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 13 218 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs 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 24 231 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 8 824 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 9 104 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65822267 65822269 + In_Frame_Del DEL GAG GAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:65822267_65822269delGAG ENST00000321892.4 + 1 488_490 c.427_429delGAG c.(427-429)del p.E148del BPTF_ENST00000335221.5_In_Frame_Del_p.E148del|BPTF_ENST00000306378.6_In_Frame_Del_p.E148del|BPTF_ENST00000424123.3_In_Frame_Del_p.E9del Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 148 Glu-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding p.E143*(2) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) catggtctccgaggaggaggagg 0.635 8 101 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141017 + RNA DEL C C - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr17:66141017delC ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAA 0.323 12 246 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 8 291 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:9361741delT ENST00000456448.1 + 1 136 c.22delT c.(22-24)ttfs p.F11fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCCAATTCTCTTTTTTTTTTT 0.388 11 79 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs 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 11 978 --- --- --- --- ZNF563 147837 broad.mit.edu 37 19 12430217 12430217 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:12430217delA ENST00000293725.5 - 4 827 c.622delT c.(622-624)ggfs p.W208fs ZNF563_ENST00000595977.1_Intron NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AAACTGGGCCAAAAAAAAGCT 0.393 11 979 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 7 1406 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 14 1378 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 7 965 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 12 155 --- --- --- --- ZFP36 7538 broad.mit.edu 37 19 39898948 39898950 + In_Frame_Del DEL CAC CAC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:39898948_39898950delCAC ENST00000597629.1 + 2 682_684 c.608_610delCAC c.(607-612)tca>t p.SP203del ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del P26651 TTP_HUMAN ZFP36 ring finger protein 197 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGCCGGACCTCACCACCACCACC 0.685 8 1704 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 8 223 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 9 436 --- --- --- --- CTD-3018O17.3 0 broad.mit.edu 37 19 52896073 52896074 + RNA DEL TA TA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:52896073_52896074delTA ENST00000601562.1 - 0 784 GTGGAAGCTGTATATATATATA 0.460 7 65 --- --- --- --- ZNF416 55659 broad.mit.edu 37 19 58084579 58084579 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr19:58084579delA ENST00000196489.3 - 4 915 c.693delT c.(691-693)ttfs p.F231fs NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CTCTAGGGTGAAAAAAAGTGT 0.453 9 1555 --- --- --- --- PANK2 80025 broad.mit.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 7 1438 --- --- --- --- ZNF831 128611 broad.mit.edu 37 20 57766219 57766220 + Frame_Shift_Ins INS - - C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec 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 8 281 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 9 503 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 8 2116 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661170 22661170 + RNA DEL T T - rs58170086 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr22:22661170delT ENST00000426066.1 + 0 262 NR_027293.1 AGCATACAGGTTTTCCCCCCC 0.403 18 254 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661172 22661173 + RNA INS - - C rs7410785 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr22:22661172_22661173insC ENST00000426066.1 + 0 264_265 NR_027293.1 CATACAGGTTTTCCCCCCCCAC 0.411 7 275 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 11 651 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr22:38471034_38471036delGGA ENST00000404072.3 + 13 1490_1492 c.1143_1145delGGA c.(1141-1146)ggg>gg p.GE381del PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 381 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TCACAGATGGggaggaggaggag 0.635 10 172 --- --- --- --- ZC3H7B 23264 broad.mit.edu 37 22 41753399 41753401 + In_Frame_Del DEL CTG CTG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chr22:41753399_41753401delCTG ENST00000352645.4 + 23 3157_3159 c.2900_2902delCTG c.(2899-2904)cct>c p.PA967del ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 983 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCAGAAGCCCCTGCTGCTGCTGC 0.650 7 904 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 12 624 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:54578339_54578341delGAA ENST00000336470.4 + 12 1252_1254 c.1113_1115delGAA c.(1111-1116)ggg>gg p.GK371del GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 371 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 ACCGTTTGGGGAAGAAGAAGAAG 0.557 10 531 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360648 70360650 + In_Frame_Del DEL CAG CAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:70360648_70360650delCAG ENST00000333646.6 + 42 6416_6418 c.6217_6219delCAG c.(6217-6219)del p.Q2079del MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000478889.1_3'UTR NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2076 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) gcaacagcaacagcagcagcagc 0.621 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 9 465 --- --- --- --- PCDH19 57526 broad.mit.edu 37 X 99662505 99662505 + Frame_Shift_Del DEL G G - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:99662505delG ENST00000373034.4 - 1 2766 c.1091delC c.(1090-1092)cgfs p.P364fs PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 364 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P364fs*4(1) breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CACGTAGCCCGGGGGGGCGCT 0.607 7 568 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 11 859 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 16 489 --- --- --- --- HS6ST2 90161 broad.mit.edu 37 X 131762582 131762582 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:131762582delA ENST00000370836.2 - 4 1902 c.1487delT c.(1486-1488)tgfs p.L496fs HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 496 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) ATACCTCTGCAAAAAAAGGTC 0.453 8 1442 --- --- --- --- USP26 83844 broad.mit.edu 37 X 132160788 132160788 + Frame_Shift_Del DEL A A - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:132160788delA ENST00000511190.1 - 6 1930 c.1461delT c.(1459-1461)ttfs p.F487fs USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 487 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.G488fs*6(2)|p.F487fs*7(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CTTCTGCTCCAAAAAAAAGAT 0.383 18 1447 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 8 1228 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 24 1162 --- --- --- --- ATP2B3 492 broad.mit.edu 37 X 152845611 152845611 + Frame_Shift_Del DEL C C - rs149428057 byFrequency TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:152845611delC ENST00000263519.4 + 20 3644 c.3518delC c.(3517-3519)gcfs p.A1173fs ATP2B3_ENST00000349466.2_Frame_Shift_Del_p.A1173fs|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR NM_001001344.2 NP_001001344.1 Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 1173 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCCTCCGGGCCCCCCCGCCC 0.587 8 1342 --- --- --- --- F8 2157 broad.mit.edu 37 X 154158427 154158428 + Frame_Shift_Ins INS - - T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-11A-12D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 78db7290-8b42-4785-88d1-93e4294873ec g.chrX:154158427_154158428insT ENST00000360256.4 - 14 3837_3838 c.3637_3638insA c.(3637-3639)tcafs p.S1213fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1213 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTCTTCCTGAATTTTTTTTTCT 0.327 8 326 --- --- --- ---