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 CROCC 9696 broad.mit.edu 37 1 17266463 17266463 + Silent SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:17266463C>T ENST00000375541.5 + 13 1752 c.1683C>T c.(1681-1683)agC>agT p.S561S CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 561 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) ACAGCGAGAGCGAGCGGCGGG 0.692000 6 490 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17266471 17266471 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:17266471G>A ENST00000375541.5 + 13 1760 c.1691G>A c.(1690-1692)cGg>cAg p.R564Q CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 564 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGCGAGCGGCGGGCCCTAGAG 0.706000 6 455 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 9 292 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633740 70633740 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr14:70633740C>T ENST00000381269.2 - 2 2153 c.1400G>A c.(1399-1401)gGc>gAc p.G467D SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 467 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) ATCAATTATGCCCACGGAGAA 0.517000 6 818 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954263 30954263 + Missense_Mutation SNP T T C rs140684982 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr6:30954263T>C ENST00000376296.3 + 2 552 c.311T>C c.(310-312)aTa>aCa p.I104T MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 104 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GGGATCAGCATAGCCACCAAC 0.582000 11 724 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 7 324 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 7 172 0 0 1 0 0 CCDC172 374355 broad.mit.edu 37 10 118117425 118117425 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr10:118117425C>T ENST00000333254.3 + 7 879 c.628C>T c.(628-630)Cct>Tct p.P210S NM_198515.2 NP_940917.1 coiled-coil domain containing 172 CAGTGAAAAGCCTCAAAATGA 0.284000 6 160 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35910614 35910614 + Nonsense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr5:35910614G>A ENST00000397367.2 - 3 295 c.169C>T c.(169-171)Cga>Tga p.R57* CAPSL_ENST00000397366.1_Nonsense_Mutation_p.R57*|CAPSL_ENST00000514524.1_Nonsense_Mutation_p.R57* NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 57 EF-hand 1. cytoplasm calcium ion binding p.R57*(1) central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TCAAGGGTTCGATTATTATCG 0.308000 5 359 0 0 1 0 0 SEMA4F 10505 broad.mit.edu 37 2 74902760 74902760 + Splice_Site SNP A A T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr2:74902760A>T ENST00000357877.2 + 11 1630 c.1482_splice c.e11+1 p.H494_splice SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Splice_Site_p.H339_splice NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 494 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 AAATTGTACCACGTGAGTTGT 0.527000 8 257 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14772183 14772183 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr12:14772183G>A ENST00000261170.3 - 24 2973 c.2837C>T c.(2836-2838)aCg>aTg p.T946M RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 946 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TGTGTTGACCGTATCTCCAAA 0.488000 5 422 0 0 1 0 0 ZNF645 158506 broad.mit.edu 37 X 22291423 22291423 + Silent SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chrX:22291423G>A ENST00000323684.1 + 1 359 c.315G>A c.(313-315)gcG>gcA p.A105A NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 105 intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 GAATTGAGGCGCATAAACGAG 0.428000 6 629 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) 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) TGGTActactgctgctgctgc 0.502000 T MLL ALL 6 534 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) 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) tgctgctgctgctactgctgc 0.527000 T MLL ALL 8 304 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7714957 7714957 + Missense_Mutation SNP G G C TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr16:7714957G>C ENST00000340209.4 + 10 1229 c.932G>C c.(931-933)gGt>gCt p.G311A RBFOX1_ENST00000550418.1_Missense_Mutation_p.G306A|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G349A|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G323A|RBFOX1_ENST00000355637.4_Intron|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G306A|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G349A|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G279A|RBFOX1_ENST00000535565.2_Missense_Mutation_p.G263A Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 306 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 GGATTTTATGGTGCAGACATT 0.438000 20 657 0 0 1 0 0 ZNF554 115196 broad.mit.edu 37 19 2834450 2834450 + Missense_Mutation SNP A A G TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr19:2834450A>G ENST00000317243.5 + 5 1415 c.1217A>G c.(1216-1218)aAg>aGg p.K406R NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCGGGGAAAAGCCCTATAAA 0.522000 4 267 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9005718 9005718 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr19:9005718C>T ENST00000397910.4 - 46 39891 c.39688G>A c.(39688-39690)Gga>Aga p.G13230R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13232 SEA 8. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGCTACTCCATCCTTCTCA 0.562000 10 194 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 13 113 0 0 1 0 0 PCDHGA10 0 broad.mit.edu 37 5 140793016 140793016 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr5:140793016G>A ENST00000398610.2 + 1 274 c.274G>A c.(274-276)Ggc>Agc p.G92S PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCACCGCGGGCAGGATAGA 0.602000 13 614 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110778544 110778544 + Silent SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr12:110778544G>A ENST00000395494.2 + 13 2324 c.1761G>A c.(1759-1761)cgG>cgA p.R587R ATP2A2_ENST00000539276.2_Silent_p.R614R|ATP2A2_ENST00000308664.6_Silent_p.R614R P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 614 Interacts with HAX1. ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 AGCTGTGCCGGCAAGCAGGCA 0.577000 5 359 0 0 1 0 0 SPDYC 387778 broad.mit.edu 37 11 64940200 64940200 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr11:64940200C>T ENST00000377185.2 + 6 644 c.562C>T c.(562-564)Cgc>Tgc p.R188C NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 188 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 TCGGGACCGGCGCCCCCACCA 0.657000 7 284 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23316050 23316050 + RNA SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr15:23316050G>A ENST00000560464.1 - 0 2889 GCAGCAGTCCGCATAAAGTCT 0.512000 5 372 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 8 66 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89858476 89858476 + Splice_Site SNP G G T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr16:89858476G>T ENST00000389301.3 - 13 1114 c.1083_splice c.e13-1 p.L362_splice FANCA_ENST00000568369.1_Splice_Site_p.L362_splice NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 362 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) ATCACAAAGAGCTGAAATAAA 0.542000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 5 280 1 1 1 1 0 ZNF614 80110 broad.mit.edu 37 19 52520103 52520103 + Silent SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr19:52520103G>A ENST00000270649.6 - 5 1292 c.748C>T c.(748-750)Ctg>Ttg p.L250L ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 250 L -> P (in Ref. 1; BAC04966). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TTAGTTTTCAGATGCTTAGTG 0.368000 15 554 0 0 1 0 0 UAP1L1 91373 broad.mit.edu 37 9 139974535 139974535 + Silent SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr9:139974535G>A ENST00000409858.3 + 6 1151 c.1119G>A c.(1117-1119)ccG>ccA p.P373P UAP1L1_ENST00000360271.3_Silent_p.P250P NM_207309.2 NP_997192.2 Q3KQV9 UAP1L_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 373 P -> S (in dbSNP:rs1122444). nucleotidyltransferase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) TGGTAAAGCCGCTAAAACCGA 0.488000 7 578 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578461 7578461 + Missense_Mutation SNP C C A rs121912654 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr17:7578461C>A ENST00000420246.2 - 5 601 c.469G>T c.(469-471)Gtc>Ttc p.V157F TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 157 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation). 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.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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) ATGGCGCGGACGCGGGTGCCG 0.617000 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) 6 278 5.18039e-06 5.62345e-06 1 1 0 KCNT1 57582 broad.mit.edu 37 9 138651632 138651632 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr9:138651632C>T ENST00000298480.5 + 11 1036 c.962C>T c.(961-963)aCg>aTg p.T321M KCNT1_ENST00000488444.2_Missense_Mutation_p.T302M|KCNT1_ENST00000371757.2_Missense_Mutation_p.T321M|KCNT1_ENST00000487664.1_Missense_Mutation_p.T276M|KCNT1_ENST00000490355.2_Missense_Mutation_p.T302M|KCNT1_ENST00000263604.3_Missense_Mutation_p.T302M|KCNT1_ENST00000491806.2_Missense_Mutation_p.T288M|KCNT1_ENST00000486577.2_Missense_Mutation_p.T282M B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 321 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GGTGACGTCACGCCCAAGATC 0.647000 5 209 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18896965 18896965 + Silent SNP A A T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr16:18896965A>T ENST00000446231.2 - 7 1258 c.846T>A c.(844-846)tcT>tcA p.S282S SMG1_ENST00000389467.3_Silent_p.S282S|SMG1_ENST00000565224.1_Silent_p.S256S Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 282 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TTTCAAGAATAGACTGCAGGC 0.333000 5 368 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R 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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 13 312 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150421561 150421561 + Missense_Mutation SNP T T A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr3:150421561T>A ENST00000295910.6 - 1 177 c.125A>T c.(124-126)gAg>gTg p.E42V RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 42 Glu-rich. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ctcctcctcctccacctcttc 0.617000 4 62 0 0 1 0 0 TRMT5 57570 broad.mit.edu 37 14 61442343 61442343 + Missense_Mutation SNP G G A rs150018663 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr14:61442343G>A ENST00000261249.6 - 4 1678 c.1294C>T c.(1294-1296)Cgg>Tgg p.R432W RP11-193F5.1_ENST00000553946.1_RNA NM_020810.2 NP_065861.2 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 432 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) GCCCTTTGCCGAACATCCTCA 0.483000 5 402 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237969517 237969517 + Silent SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:237969517C>T ENST00000366574.2 + 99 14549 c.14232C>T c.(14230-14232)ctC>ctT p.L4744L RYR2_ENST00000542537.1_Silent_p.L4728L|RYR2_ENST00000360064.6_Silent_p.L4750L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4744 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTCACCTTCTCGACATTGCTA 0.408000 7 254 0 0 1 0 0 RPL26L1 51121 broad.mit.edu 37 5 172386920 172386920 + Missense_Mutation SNP G G T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr5:172386920G>T ENST00000521476.1 + 2 168 c.44G>T c.(43-45)cGc>cTc p.R15L RPL26L1_ENST00000519239.1_Missense_Mutation_p.R15L|RPL26L1_ENST00000519974.1_Missense_Mutation_p.R15L|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R15L Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 15 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 7 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGTAAAAACCGCAAACGTCAC 0.562000 13 753 1.5842e-08 1.77818e-08 1 1 0 CDC42EP4 23580 broad.mit.edu 37 17 71281656 71281656 + Nonsense_Mutation SNP C C A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr17:71281656C>A ENST00000581014.1 - 3 397 c.181G>T c.(181-183)Gga>Tga p.G61* CDC42EP4_ENST00000335793.3_Silent_p.P328P|CDC42EP4_ENST00000439510.2_Silent_p.P258P Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 0 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) GGGCCCTGTCCGGCCCCCGGA 0.652000 6 329 0.00116845 0.00122798 1 1 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 15 285 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4744532 4744532 + Missense_Mutation SNP G G T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr3:4744532G>T ENST00000302640.8 + 35 4860 c.4510G>T c.(4510-4512)Gtg>Ttg p.V1504L ITPR1_ENST00000423119.2_Missense_Mutation_p.V1510L|ITPR1_ENST00000456211.2_Missense_Mutation_p.V1495L|ITPR1_ENST00000443694.2_Missense_Mutation_p.V1504L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.V1510L|ITPR1_ENST00000354582.6_Missense_Mutation_p.V1519L NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1519 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GCCTGTCTTTGTGCAACTGCT 0.473000 7 134 5.18039e-06 5.62345e-06 1 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54925049 54925049 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr12:54925049C>T ENST00000293373.6 + 23 2591 c.2512C>T c.(2512-2514)Cgg>Tgg p.R838W NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R788W NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 838 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TCCAGAGATGCGGGCCTTGGC 0.468000 7 714 0 0 1 0 0 SMURF2 64750 broad.mit.edu 37 17 62558963 62558963 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr17:62558963G>A ENST00000262435.9 - 11 1325 c.1138C>T c.(1138-1140)Cgg>Tgg p.R380W SMURF2_ENST00000578200.1_Intron NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 380 BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) AGTTCTTGCCGCAAAATTTTT 0.448000 6 363 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 7 400 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43090109 43090109 + Nonsense_Mutation SNP C C A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr10:43090109C>A ENST00000359467.3 - 5 403 c.289G>T c.(289-291)Gaa>Taa p.E97* ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 97 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 GATTGATTTTCTTGGCTCCTC 0.333000 13 417 0.00010058 0.000106383 1 1 0 GPC5 2262 broad.mit.edu 37 13 92101122 92101122 + Missense_Mutation SNP A A G TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr13:92101122A>G ENST00000377067.3 + 2 643 c.271A>G c.(271-273)Acg>Gcg p.T91A NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 91 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GTTTCTTCAAACGTCCAGCTC 0.438000 21 398 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111862267 111862267 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr13:111862267G>A ENST00000375741.2 + 5 699 c.449G>A c.(448-450)cGc>cAc p.R150H ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 150 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TCGTCTCACCGCATAAAGTCT 0.517000 7 854 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96418827 96418827 + Missense_Mutation SNP T T A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr9:96418827T>A ENST00000359246.4 + 9 1464 c.1097T>A c.(1096-1098)tTt>tAt p.F366Y PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 366 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) TTTCCCAACTTTGAAACTGCG 0.547000 7 201 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28515989 28515989 + Missense_Mutation SNP T T C TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr15:28515989T>C ENST00000261609.7 - 10 1217 c.1109A>G c.(1108-1110)aAt>aGt p.N370S NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 370 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GAAACTCTCATTGGGGCTCAG 0.448000 4 156 0 0 1 0 0 OR52W1 120787 broad.mit.edu 37 11 6221254 6221254 + Missense_Mutation SNP C C A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr11:6221254C>A ENST00000311352.2 + 1 879 c.801C>A c.(799-801)caC>caA p.H267Q NM_001005178.1 NP_001005178.1 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, member 1 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6) 11 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCTCACACACCGCTTTGGTC 0.547000 10 1433 2.56e-06 2.8349e-06 1 1 0 PLSCR3 57048 broad.mit.edu 37 17 7296183 7296183 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr17:7296183G>A ENST00000535512.1 - 9 1613 c.596C>T c.(595-597)gCc>gTc p.A199V PLSCR3_ENST00000574401.1_Missense_Mutation_p.A199V|PLSCR3_ENST00000576362.1_Missense_Mutation_p.A175V|PLSCR3_ENST00000324822.11_Missense_Mutation_p.A199V|PLSCR3_ENST00000576201.1_Missense_Mutation_p.A199V|C17orf61-PLSCR3_ENST00000573331.1_3'UTR Q9NRY6 PLS3_HUMAN phospholipid scramblase 3 199 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding endometrium(1)|kidney(2)|urinary_tract(1) 4 Prostate(122;0.173) CTGGCGATCGGCATCCTGGAT 0.587000 6 970 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70960066 70960066 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr15:70960066G>A ENST00000322954.6 - 16 3142 c.2957C>T c.(2956-2958)gCc>gTc p.A986V UACA_ENST00000560441.1_Missense_Mutation_p.A971V|UACA_ENST00000539319.1_Missense_Mutation_p.A877V|UACA_ENST00000379983.2_Missense_Mutation_p.A973V NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 986 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 GACAATTGGGGCGTATTTTAC 0.403000 6 712 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7915536 7915536 + Silent SNP G G A rs63749078 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr17:7915536G>A ENST00000254854.4 + 9 1974 c.1824G>A c.(1822-1824)gcG>gcA p.A608A NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 608 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) AAGGCCCTGCGGCCCTCTGGG 0.617000 8 229 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49186320 49186320 + Missense_Mutation SNP G G C TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr11:49186320G>C ENST00000340334.7 - 14 1700 c.1332C>G c.(1330-1332)aaC>aaG p.N444K FOLH1_ENST00000533034.1_Missense_Mutation_p.N444K|FOLH1_ENST00000256999.2_Missense_Mutation_p.N459K|FOLH1_ENST00000343844.4_Missense_Mutation_p.N151K|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.N459K NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 459 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TCAGAGTGTAGTTTCCTGAAA 0.294000 4 294 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11773143 11773143 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr2:11773143G>A ENST00000381486.2 + 28 5245 c.4945G>A c.(4945-4947)Gtg>Atg p.V1649M GREB1_ENST00000396123.1_Missense_Mutation_p.V647M|GREB1_ENST00000234142.5_Missense_Mutation_p.V1649M NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1649 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TGACTCCTGCGTGATGTGGAA 0.562000 7 391 0 0 1 0 0 OR2W5 0 broad.mit.edu 37 1 247655131 247655131 + RNA SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:247655131G>A ENST00000522351.1 + 0 762 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GCAGCAGGGCGAAAGAAAGCC 0.587000 21 498 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57871243 57871243 + Splice_Site SNP G G A rs147287939 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr12:57871243G>A ENST00000393797.2 - 7 1160 c.969_splice c.e7+1 p.T323_splice ARHGAP9_ENST00000550288.1_Splice_Site_p.T331_splice|ARHGAP9_ENST00000424809.2_Splice_Site_p.T252_splice|ARHGAP9_ENST00000356411.2_Splice_Site_p.T252_splice|ARHGAP9_ENST00000430041.2_Splice_Site_p.T68_splice|ARHGAP9_ENST00000393791.3_Splice_Site_p.T252_splice|ARHGAP9_ENST00000550454.1_5'UTR Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 252 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) AGGTCTCACCGTCTCGCTGCG 0.577000 17 308 0 0 1 0 0 RELA 5970 broad.mit.edu 37 11 65421892 65421892 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr11:65421892G>A ENST00000406246.3 - 11 1874 c.1613C>T c.(1612-1614)gCg>gTg p.A538V RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Missense_Mutation_p.A535V NM_001243984.1|NM_001243985.1|NM_021975.3 NP_001230913.1|NP_001230914.1|NP_068810.3 Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 538 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 GTCCATGTCCGCAATGGAGGA 0.642000 4 170 0 0 1 0 0 CHIAP2 0 broad.mit.edu 37 1 111825998 111825998 + RNA SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:111825998G>A ENST00000369743.4 + 0 1363 NR_003928.1 ACAAATACCCGACTGACACCG 0.532000 7 145 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60560029 60560029 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr10:60560029C>T ENST00000373886.3 + 13 1805 c.1801C>T c.(1801-1803)Ccg>Tcg p.P601S BICC1_ENST00000263103.1_Missense_Mutation_p.P227S NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 601 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 TCACGGGGATCCGTCCATCCA 0.403000 10 193 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34003851 34003851 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr6:34003851C>T ENST00000374181.3 - 8 2205 c.2036G>A c.(2035-2037)cGc>cAc p.R679H GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000544773.1_Missense_Mutation_p.R510H|GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000545715.1_Missense_Mutation_p.R371H|GRM4_ENST00000538487.1_Missense_Mutation_p.R679H|GRM4_ENST00000455714.2_Missense_Mutation_p.R539H NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 679 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CTCGAAGATGCGGTAGATGCG 0.627000 5 522 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526097 176526097 + Silent SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:176526097C>T ENST00000367662.3 + 2 1803 c.639C>T c.(637-639)tcC>tcT p.S213S PAPPA2_ENST00000367661.3_Silent_p.S213S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 213 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGGGAGACTCCGGTATCTCTT 0.562000 6 402 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659809 24659809 + RNA SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr22:24659809G>A ENST00000414583.2 + 0 3334 NR_003714.1 CCCTATCTGCGCACCCGGAGG 0.612000 4 32 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 5 184 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 6 148 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70805902 70805902 + Silent SNP A A C TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr5:70805902A>C ENST00000358731.4 + 17 3246 c.2983A>C c.(2983-2985)Agg>Cgg p.R995R BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 995 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AATATCCCCAAGGGAAAATGG 0.458000 19 400 0 0 1 0 0 GSE1 23199 broad.mit.edu 37 16 85682180 85682180 + Silent SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr16:85682180G>A ENST00000253458.7 + 3 425 c.249G>A c.(247-249)tcG>tcA p.S83S GSE1_ENST00000405402.2_5'UTR|GSE1_ENST00000393243.1_Silent_p.S10S NM_014615.2 NP_055430.1 Gse1 coiled-coil protein GCAGCGAGTCGTCCCCCGTGT 0.697000 17 332 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145567068 145567068 + Silent SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:145567068C>T ENST00000355594.4 + 12 3003 c.2916C>T c.(2914-2916)taC>taT p.Y972Y NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 972 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCTCCACCTACAGGAATCATC 0.478000 23 437 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285497 16285497 + Silent SNP A A G TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr17:16285497A>G ENST00000302182.3 + 2 668 c.276A>G c.(274-276)gaA>gaG p.E92E RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.E92E NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 92 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.E92E(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) TCACCCTGGAAGTGGAGCCCA 0.557000 5 416 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702250 187702250 + Missense_Mutation SNP A A T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr2:187702250A>T ENST00000295131.2 - 5 565 c.526T>A c.(526-528)Tgc>Agc p.C176S NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 176 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) ATCTTCATGCATTTTATATGA 0.318000 9 277 0 0 1 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48716527 48716527 + Missense_Mutation SNP A A T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr3:48716527A>T ENST00000294129.2 - 10 1779 c.1660T>A c.(1660-1662)Tgc>Agc p.C554S NCKIPSD_ENST00000416649.2_Missense_Mutation_p.C547S|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.C554S NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain 554 Leu-rich. cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGTTCACGCAGAGGTCCGGC 0.652000 11 197 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75884826 75884826 + Missense_Mutation SNP C C A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr6:75884826C>A ENST00000322507.8 - 13 2947 c.2638G>T c.(2638-2640)Gcc>Tcc p.A880S COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.A880S|COL12A1_ENST00000416123.2_Missense_Mutation_p.A880S NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 880 Fibronectin type-III 5. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 ACAGATAAGGCGTATTGTGTC 0.488000 6 751 0.248553 0.25632 1 1 0 RALGAPA2 57186 broad.mit.edu 37 20 20493737 20493737 + Missense_Mutation SNP G G C TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr20:20493737G>C ENST00000202677.6 - 32 4418 c.4276C>G c.(4276-4278)Ctg>Gtg p.L1426V NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1426 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 AACAGCTGCAGGTTTGGACTT 0.537000 6 170 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144825409 144825409 + Missense_Mutation SNP G G A rs558823 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:144825409G>A ENST00000440491.2 + 11 1361 c.1361G>A c.(1360-1362)gGt>gAt p.G454D NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 GACTCACTGGGTAGATGGTAT 0.493000 7 702 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) 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) tgctgctactgctgctgctgc 0.532000 T MLL ALL 6 305 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004853 74004853 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr17:74004853G>A ENST00000301607.3 - 22 4686 c.4433C>T c.(4432-4434)aCg>aTg p.T1478M EVPL_ENST00000586740.1_Missense_Mutation_p.T1500M NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1478 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CAGGGCTTCCGTGGACTTCTC 0.592000 6 606 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43102964 43102964 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:43102964G>A ENST00000428554.2 + 18 2696 c.1553G>A c.(1552-1554)cGt>cAt p.R518H CCDC30_ENST00000342022.4_Missense_Mutation_p.R518H|CCDC30_ENST00000507855.1_Missense_Mutation_p.R307H|CCDC30_ENST00000340612.4_Missense_Mutation_p.R518H|CCDC30_ENST00000390640.4_Missense_Mutation_p.R307H Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 518 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 GTCAAGTATCGTTTAACTAAT 0.289000 8 350 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158152716 158152716 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:158152716G>A ENST00000368171.3 + 5 1155 c.656G>A c.(655-657)cGt>cAt p.R219H NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 219 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) GGCCCTGGCCGTCTGCTGCTG 0.592000 29 474 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39580491 39580491 + Silent SNP G G A rs146872723 byFrequency TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr17:39580491G>A ENST00000225550.3 - 1 284 c.285C>T c.(283-285)taC>taT p.Y95Y AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 95 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) TGTTTTTGCCGTAGGCCCCAC 0.597000 6 318 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 250 0 0 1 0 0 LTB4R 1241 broad.mit.edu 37 14 24785074 24785074 + Missense_Mutation SNP T T C TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr14:24785074T>C ENST00000396789.4 + 2 1942 c.217T>C c.(217-219)Ttt>Ctt p.F73L LTB4R_ENST00000345363.3_Missense_Mutation_p.F73L|LTB4R_ENST00000396782.2_Missense_Mutation_p.F73L NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 73 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) CACTGCTCCCTTTTTCCTTCA 0.582000 8 525 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144828545 144828545 + Missense_Mutation SNP A A T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:144828545A>T ENST00000338347.4 + 14 1591 c.1591A>T c.(1591-1593)Aac>Tac p.N531Y NBPF9_ENST00000440491.2_Silent_p.S604S|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.N129Y neuroblastoma breakpoint family, member 9 p.N531Y(1) NS(2)|prostate(1) 3 TTCCAGGCTCAACGGCGTGCT 0.453000 8 866 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 6 333 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659813 24659813 + RNA SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr22:24659813C>T ENST00000414583.2 + 0 3338 NR_003714.1 ATCTGCGCACCCGGAGGTGGG 0.607000 4 28 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101299991 101299991 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr8:101299991G>A ENST00000519449.1 - 3 728 c.412C>T c.(412-414)Cgg>Tgg p.R138W RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 138 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) TTAGAATGCCGCAAAAGGCAC 0.373000 6 651 0 0 1 0 0 RRN3P3 0 broad.mit.edu 37 16 22448619 22448619 + RNA SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr16:22448619C>T ENST00000551766.1 - 0 417 NR_027460.1 tcggcttcctcctcAGCCCCG 0.741000 5 21 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65425588 65425588 + Silent SNP C C T rs139785185 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr3:65425588C>T ENST00000330909.8 - 9 1235 c.1236G>A c.(1234-1236)caG>caA p.Q412Q MAGI1_ENST00000497477.2_Silent_p.Q412Q|MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q412Q NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 412 Poly-Gln. 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) gctgctgctgctgttgctgct 0.537000 OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 362 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400841 195400841 + RNA SNP C C A rs7615369 by1000genomes TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr3:195400841C>A ENST00000445430.1 + 0 1437 CTGAGCATCGCAGAGTCGTGC 0.552000 5 164 1.99824e-07 2.22776e-07 1 1 0 ACRC 93953 broad.mit.edu 37 X 70823856 70823856 + Missense_Mutation SNP A A T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chrX:70823856A>T ENST00000373695.1 + 7 1266 c.729A>T c.(727-729)gaA>gaT p.E243D ACRC_ENST00000373696.3_Missense_Mutation_p.E243D Q96QF7 ACRC_HUMAN acidic repeat containing 243 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) ATGATTCGGAAGCTCCCGACG 0.547000 9 1099 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 228396 228396 + Missense_Mutation SNP G G C rs1041946 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr5:228396G>C ENST00000264932.6 + 6 833 c.718G>C c.(718-720)Gag>Cag p.E240Q SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 240 E -> Q (in dbSNP:rs1041946). nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity p.E240Q(2) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) ACTGTGCATAGAGGACGGGTC 0.418000 Familial Paragangliomas 4 346 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24842975 24842975 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr14:24842975G>A ENST00000413692.2 + 6 1967 c.1823G>A c.(1822-1824)cGc>cAc p.R608H NFATC4_ENST00000553469.1_Missense_Mutation_p.R577H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R475H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R545H|NFATC4_ENST00000250373.4_Missense_Mutation_p.R545H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R533H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R545H|NFATC4_ENST00000555453.1_Missense_Mutation_p.R533H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R475H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R558H|NFATC4_ENST00000556759.1_Missense_Mutation_p.R80H|NFATC4_ENST00000555167.1_Missense_Mutation_p.R80H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R558H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R577H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R533H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R577H|NFATC4_ENST00000554591.1_Missense_Mutation_p.R608H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R558H|NFATC4_ENST00000554473.1_Missense_Mutation_p.R80H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R475H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R475H NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 545 IPT/TIG. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R545H(1)|p.R608H(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) GACATCGGGCGCAAAAACACA 0.592000 5 411 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77431650 77431650 + Missense_Mutation SNP C C A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr9:77431650C>A ENST00000451710.3 - 11 1480 c.1243G>T c.(1243-1245)Gca>Tca p.A415S TRPM6_ENST00000361255.3_Missense_Mutation_p.A410S|TRPM6_ENST00000449912.2_Missense_Mutation_p.A410S|TRPM6_ENST00000376872.3_Missense_Mutation_p.A415S|TRPM6_ENST00000376871.3_Missense_Mutation_p.A415S|TRPM6_ENST00000376864.4_Missense_Mutation_p.A415S|TRPM6_ENST00000360774.1_Missense_Mutation_p.A415S Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 415 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CAAGCCATTGCCAGATTTAAT 0.353000 7 391 1.12685e-05 1.20734e-05 1 1 0 ANK2 287 broad.mit.edu 37 4 114203916 114203916 + Missense_Mutation SNP A A T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr4:114203916A>T ENST00000357077.4 + 18 2020 c.1967A>T c.(1966-1968)aAc>aTc p.N656I ANK2_ENST00000394537.3_Missense_Mutation_p.N656I|ANK2_ENST00000264366.6_Missense_Mutation_p.N656I|ANK2_ENST00000506722.1_Missense_Mutation_p.N635I NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 656 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCAGAGACAAACATTGTGACA 0.448000 7 203 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50720348 50720348 + Missense_Mutation SNP C C A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr22:50720348C>A ENST00000449103.1 - 20 3420 c.3280G>T c.(3280-3282)Gac>Tac p.D1094Y PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1094Y O15031 PLXB2_HUMAN plexin B2 1094 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AAGGTGGGGTCAGGCACGTAC 0.637000 13 237 7.03913e-09 7.95518e-09 1 1 0 RAB11FIP5 26056 broad.mit.edu 37 2 73316366 73316366 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr2:73316366C>T ENST00000258098.6 - 2 749 c.509G>A c.(508-510)cGc>cAc p.R170H RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 170 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CAGGTTGTTGCGCGTGAACTG 0.532000 7 1291 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 5 465 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 4 79 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553676 140553676 + Silent SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr5:140553676C>T ENST00000231137.3 + 1 1434 c.1260C>T c.(1258-1260)acC>acT p.T420T NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 420 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACATCACCATCACCGTCA 0.512000 6 365 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1654058 1654058 + Translation_Start_Site SNP C C T rs61777495 by1000genomes TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:1654058C>T ENST00000356200.3 - 0 212 CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame|CDK11A_ENST00000358779.5_Intron|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000378635.3_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000404249.3_Intron cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 AAGAACTTCACCGAAGAAGCG 0.338000 6 162 0 0 1 0 0 PANK3 79646 broad.mit.edu 37 5 167995848 167995848 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr5:167995848C>T ENST00000239231.6 - 2 500 c.184G>A c.(184-186)Ggc>Agc p.G62S NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 62 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) TCCCGAATGCCGGTGGATCCA 0.418000 33 618 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 7 242 0 0 1 0 0 GABRQ 55879 broad.mit.edu 37 X 151821056 151821056 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chrX:151821056C>T ENST00000370306.2 + 9 1231 c.1211C>T c.(1210-1212)gCg>gTg p.A404V NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 404 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) ATCACCCCAGCGCAGGCCCCC 0.582000 22 378 0 0 1 0 0 ZBED4 9889 broad.mit.edu 37 22 50278645 50278645 + Silent SNP C C T rs141708563 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr22:50278645C>T ENST00000216268.4 + 2 1812 c.1335C>T c.(1333-1335)gcC>gcT p.A445A NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 445 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) AATCTGGCGCCATCTTCCAGC 0.557000 46 417 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 144525606 144525606 + Silent SNP G G T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr2:144525606G>T ENST00000295095.6 + 14 1460 c.1293G>T c.(1291-1293)ggG>ggT p.G431G CTD-2252P21.1_ENST00000548756.1_RNA NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 431 Rho-GAP. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) AAAGCTTGGGGATTGTATTTG 0.453000 20 549 2.4624e-09 2.80204e-09 1 1 0 PIP4K2A 5305 broad.mit.edu 37 10 22896891 22896891 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr10:22896891G>A ENST00000376573.4 - 3 532 c.304C>T c.(304-306)Cgg>Tgg p.R102W PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R43W|PIP4K2A_ENST00000422321.1_5'UTR NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 102 PIPK. LRE -> CGK (in Ref. 3; AAB35041). 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 AACCTCTCCCGCAGGTTACGG 0.448000 4 216 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144825416 144825416 + Missense_Mutation SNP G G T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:144825416G>T ENST00000440491.2 + 11 1368 c.1368G>T c.(1366-1368)tgG>tgT p.W456C NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 TGGGTAGATGGTATTCGACTC 0.498000 7 753 1 1 1 1 0 HMX3 340784 broad.mit.edu 37 10 124895877 124895877 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr10:124895877C>T ENST00000357878.5 + 1 400 c.311C>T c.(310-312)gCc>gTc p.A104V NM_001105574.1 NP_001099044.1 A6NHT5 HMX3_HUMAN H6 family homeobox 3 104 cell differentiation nucleus sequence-specific DNA binding transcription factor activity lung(4) 4 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) CAGAGGTTTGCCCTGCCCGCG 0.731000 4 81 0 0 1 0 0 REPS2 9185 broad.mit.edu 37 X 17153512 17153512 + Silent SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chrX:17153512G>A ENST00000357277.3 + 16 1962 c.1791G>A c.(1789-1791)ccG>ccA p.P597P REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Silent_p.P596P|REPS2_ENST00000380064.4_Silent_p.P396P NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 597 Interaction with ASAP1 (By similarity).|Interaction with RALBP1. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) CCATGAAACCGCATCCAACAG 0.463000 6 656 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39907611 39907611 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr19:39907611C>T ENST00000425673.1 + 7 1040 c.715C>T c.(715-717)Cgc>Tgc p.R239C PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R239C|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R239C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R239C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R180C Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 239 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACCTGTCCAGCGCATTCTCAA 0.647000 7 287 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150001515 150001515 + Missense_Mutation SNP T T C rs67173413 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr6:150001515T>C ENST00000543571.1 - 5 2636 c.2089A>G c.(2089-2091)Agg>Ggg p.R697G LATS1_ENST00000253339.5_Missense_Mutation_p.R697G|LATS1_ENST00000542747.1_5'UTR NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 697 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) ATTTTAGCCCTTTTAAGACGG 0.363000 5 642 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26725427 26725427 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr11:26725427G>A ENST00000396005.3 - 5 902 c.593C>T c.(592-594)aCg>aTg p.T198M SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 198 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 AATGAGAACCGTTAAGAAGCC 0.403000 9 801 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821424 203821424 + Missense_Mutation SNP T T C TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:203821424T>C ENST00000545588.1 + 17 6157 c.2330T>C c.(2329-2331)aTa>aCa p.I777T ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 777 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GAGAAACTAATATGGGAGATT 0.473000 4 295 0 0 1 0 0 R3HDM2 22864 broad.mit.edu 37 12 57674222 57674222 + Silent SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr12:57674222C>T ENST00000402412.1 - 14 1653 c.1263G>A c.(1261-1263)caG>caA p.Q421Q R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000403821.2_Silent_p.Q407Q|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_Silent_p.Q134Q|R3HDM2_ENST00000358907.2_Silent_p.Q407Q|R3HDM2_ENST00000347140.3_Silent_p.Q407Q Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 407 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 gctgctgctgctgttgctgct 0.567000 6 306 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902703 247902703 + Missense_Mutation SNP G G C TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:247902703G>C ENST00000283225.2 + 1 787 c.787G>C c.(787-789)Gat>Cat p.D263H RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 GCCAGGGTCTGATGCACCTTC 0.438000 5 214 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125316158 125316158 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr9:125316158G>A ENST00000373688.2 + 1 768 c.710G>A c.(709-711)cGc>cAc p.R237H NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 237 R -> C (in dbSNP:rs41316976). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 TCCTATGTCCGCATTTTCTGG 0.517000 7 645 0 0 1 0 0 RNF13 11342 broad.mit.edu 37 3 149570341 149570341 + Silent SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr3:149570341C>T ENST00000344229.3 + 4 855 c.153C>T c.(151-153)ctC>ctT p.L51L RNF13_ENST00000392894.3_Silent_p.L51L NM_007282.4 NP_009213.1 O43567 RNF13_HUMAN ring finger protein 13 51 protein autoubiquitination endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 11 all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TTGATGACCTCCCTGCAAGAT 0.274000 13 205 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230643255 230643255 + Missense_Mutation SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr2:230643255G>A ENST00000283943.5 - 35 5211 c.5033C>T c.(5032-5034)gCg>gTg p.A1678V TRIP12_ENST00000389044.4_Missense_Mutation_p.A1726V|TRIP12_ENST00000389045.3_Missense_Mutation_p.A1408V NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1678 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AAAGGGAAGCGCAAACAGGCC 0.428000 5 485 0 0 1 0 0 RCN3 57333 broad.mit.edu 37 19 50040353 50040353 + Missense_Mutation SNP G G A rs150891366 byFrequency TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr19:50040353G>A ENST00000270645.3 + 4 956 c.509G>A c.(508-510)cGg>cAg p.R170Q NM_020650.2 NP_065701.2 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 170 EF-hand 3. endoplasmic reticulum lumen calcium ion binding|protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) CGGGACGAGCGGCGTTTCCGG 0.577000 35 897 0 0 1 0 0 ETNK2 55224 broad.mit.edu 37 1 204115868 204115868 + Missense_Mutation SNP C C G TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:204115868C>G ENST00000367202.4 - 3 693 c.543G>C c.(541-543)aaG>aaC p.K181N ETNK2_ENST00000367201.3_Missense_Mutation_p.K181N|ETNK2_ENST00000367198.2_Missense_Mutation_p.K3N|ETNK2_ENST00000367199.2_Intron NM_018208.2 NP_060678.2 Q9NVF9 EKI2_HUMAN ethanolamine kinase 2 181 ATP binding|choline kinase activity|ethanolamine kinase activity breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1) 7 all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) TAGTATGAATCTTTGCCATTT 0.507000 5 202 0 0 1 0 0 CXXC1 30827 broad.mit.edu 37 18 47809025 47809025 + Silent SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr18:47809025G>A ENST00000285106.6 - 15 2623 c.1909C>T c.(1909-1911)Ctg>Ttg p.L637L CXXC1_ENST00000412036.2_Silent_p.L641L|CXXC1_ENST00000589940.1_3'UTR NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 637 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 GTCTGGTGCAGCATCAGGGCC 0.637000 5 398 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 7 336 0 0 1 0 0 HIST1H3I 8354 broad.mit.edu 37 6 27839811 27839811 + Missense_Mutation SNP C C T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr6:27839811C>T ENST00000328488.2 - 1 288 c.283G>A c.(283-285)Gag>Aag p.E95K NM_003533.2 NP_003524.1 P68431 H31_HUMAN histone cluster 1, H3i 95 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TCGCAAGCCTCCTGCAGCGCC 0.562000 13 580 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385585 33385585 + Missense_Mutation SNP C C A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr9:33385585C>A ENST00000541274.1 - 5 859 c.410G>T c.(409-411)gGg>gTg p.G137V AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CACCCCCCACCCCTCAACACA 0.602000 6 207 5.18039e-06 5.62345e-06 1 1 0 VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 9 665 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 10 306 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 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 14 940 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:34666398delA ENST00000488417.1 + 3 1155 c.1035delA c.(1033-1035)ccfs p.P345fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 155 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCAAGGAGCCAAAAAAGGGTC 0.572 10 384 --- --- --- --- ZCCHC11 23318 broad.mit.edu 37 1 52991403 52991403 + Frame_Shift_Del DEL T T - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:52991403delT ENST00000371544.3 - 2 812 c.550delA c.(550-552)ttfs p.I184fs ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.I184fs|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 11 184 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 GAGCTTGGAATTTTTTTTCCA 0.408 7 1220 --- --- --- --- CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - rs3217269 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 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 41 --- --- --- --- LRIF1 55791 broad.mit.edu 37 1 111494397 111494397 + Frame_Shift_Del DEL T T - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:111494397delT ENST00000369763.4 - 2 1499 c.1109delA c.(1108-1110)agfs p.K370fs LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 ATCTGTCCCCTTTTTAGCCAA 0.398 7 949 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 16 384 --- --- --- --- ANKRD35 148741 broad.mit.edu 37 1 145562117 145562117 + Frame_Shift_Del DEL A A - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:145562117delA ENST00000355594.4 + 10 1892 c.1805delA c.(1804-1806)gafs p.E602fs NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 602 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTTGGAGGGGAAAAGGCCCTA 0.577 8 362 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152276467 152276468 + In_Frame_Ins INS - - GGA TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:152276467_152276468insGGA ENST00000368799.1 - 3 10929_10930 c.10894_10895insTCC c.(10894-10896)gtc>TCCgtc p.3631_3632insS FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3631 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTGCTGACTGCTGGTGGTGG 0.554 Ichthyosis 8 2712 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000420254.3_Intron NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGGCTGCGTCCACCACCACCAC 0.601 7 634 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 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 9 824 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 10 293 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 11 220 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000282272.8_Intron|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 65 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 7 270 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194181471 194181473 + In_Frame_Del DEL GAG GAG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr3:194181471_194181473delGAG ENST00000439040.1 - 4 930_932 c.139_141delCTC c.(139-141)del p.L47del ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del Q9H7F0 AT133_HUMAN ATPase type 13A3 47 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCATCCAATAGAGGAGGAGGAGG 0.463 8 557 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr4:140810639_140810641delGCT ENST00000509479.2 - 2 2805_2807 c.1949_1951delAGC c.(1948-1953)ccg>c p.QP650del MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 646 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGAGGTGGCGgctgctgctgctg 0.586 8 295 --- --- --- --- JAKMIP2 9832 broad.mit.edu 37 5 147011063 147011064 + Frame_Shift_Del DEL TC TC - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr5:147011063_147011064delTC ENST00000265272.5 - 14 2254_2255 c.1787_1788delGA c.(1786-1788)afs p.R597fs JAKMIP2_ENST00000333010.6_Frame_Shift_Del_p.R555fs|JAKMIP2_ENST00000507386.1_Frame_Shift_Del_p.R576fs NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 597 Golgi apparatus p.E595fs*17(1) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGGGATCGTCTCTCTCTCTC 0.371 7 246 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 22 571 --- --- --- --- RREB1 6239 broad.mit.edu 37 6 7226828 7226829 + Frame_Shift_Ins INS - - TG TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr6:7226828_7226829insTG ENST00000379938.2 + 9 1373_1374 c.836_837insTG c.(835-837)gggfs p.G279fs RREB1_ENST00000349384.6_Frame_Shift_Ins_p.G279fs|RREB1_ENST00000334984.6_Frame_Shift_Ins_p.G279fs|RREB1_ENST00000379933.3_Frame_Shift_Ins_p.G279fs NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 279 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) TCAATTCCTGCTGGCTTCCACG 0.505 25 579 --- --- --- --- GABBR1 0 broad.mit.edu 37 6 29573436 29573438 + In_Frame_Del DEL CAG CAG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr6:29573436_29573438delCAG ENST00000377034.4 - 20 2682_2684 c.2347_2349delCTG c.(2347-2349)del p.L783del GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_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 10 487 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 11 352 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs p.K512fs SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 512 integral to membrane CTGTTGAGCCTTTTTTTCAGA 0.294 8 760 --- --- --- --- PHACTR2 9749 broad.mit.edu 37 6 144081695 144081696 + Frame_Shift_Ins INS - - A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr6:144081695_144081696insA ENST00000427704.2 + 5 709_710 c.579_580insA c.(577-582)ataaaafs p.IK193fs PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.IK204fs|PHACTR2_ENST00000367584.4_Intron NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 193 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) TGCCTCCCATTAAAAAAAATAC 0.569 8 389 --- --- --- --- GARS 2617 broad.mit.edu 37 7 30634583 30634585 + In_Frame_Del DEL CTG CTG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr7:30634583_30634585delCTG ENST00000389266.3 + 1 287_289 c.46_48delCTG c.(46-48)del p.L20del NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 20 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) TCGCGCCGCTCTGCTGCTGCTGC 0.749 8 59 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 8 394 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635420 96635421 + In_Frame_Ins INS - - GCC TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr7:96635420_96635421insGCC ENST00000518156.2 + 1 561_562 c.131_132insGCC c.(130-132)ccc>cGCCcc p.43_44insR DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) caacagcaacagccgccgccgc 0.698 7 23 --- --- --- --- SLC26A7 115111 broad.mit.edu 37 8 92378867 92378867 + Frame_Shift_Del DEL A A - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr8:92378867delA ENST00000276609.3 + 14 1787 c.1548delA c.(1546-1548)gcfs p.A516fs SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.A516fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.A516fs NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 516 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TCCTGAATGCAAAAAAATTTT 0.348 8 685 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 7 272 --- --- --- --- RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA DEL G G - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr9:41962602delG ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373 9 467 --- --- --- --- NFIL3 4783 broad.mit.edu 37 9 94172779 94172779 + Frame_Shift_Del DEL T T - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 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 7 1220 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 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 7 71 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 9 366 --- --- --- --- MYO3A 53904 broad.mit.edu 37 10 26462760 26462760 + Frame_Shift_Del DEL A A - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr10:26462760delA ENST00000265944.5 + 30 3733 c.3567delA c.(3565-3567)ccfs p.P1189fs MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1189 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.M1192fs*1(2) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATCAGACTCCAAAAAAAATGA 0.403 8 327 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del 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) 8 409 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101558979 101558979 + Frame_Shift_Del DEL A A - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr10:101558979delA ENST00000370449.4 + 8 996 c.883delA c.(883-885)aafs p.K298fs NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 298 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGTTGAAAAGAAAAAAAAGAA 0.438 7 791 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 15 431 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 12 706 --- --- --- --- MRPL23-AS1 0 broad.mit.edu 37 11 2008512 2008513 + RNA INS - - GGGTA TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr11:2008512_2008513insGGGTA ENST00000419080.1 - 0 95 NR_024471.1 agggcagggctgggctgggcag 0.698 2 4 --- --- --- --- OR52E8 390079 broad.mit.edu 37 11 5878162 5878162 + Frame_Shift_Del DEL A A - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr11:5878162delA ENST00000537935.1 - 1 802 c.771delT c.(769-771)ttfs p.F257fs TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGCTGGTGTAAAAAAGGCTA 0.428 7 836 --- --- --- --- TTC17 55761 broad.mit.edu 37 11 43421509 43421509 + Frame_Shift_Del DEL A A - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr11:43421509delA ENST00000039989.4 + 9 1144 c.1130delA c.(1129-1131)gafs p.E377fs TTC17_ENST00000299240.6_Frame_Shift_Del_p.E377fs|TTC17_ENST00000526774.1_3'UTR NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 377 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 AGACAGCAGGAAATCCTAGAA 0.368 7 413 --- --- --- --- TNKS1BP1 85456 broad.mit.edu 37 11 57076529 57076529 + Frame_Shift_Del DEL C C - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr11:57076529delC ENST00000532437.1 - 5 3967 c.3656delG c.(3655-3657)gafs p.G1219fs TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1219fs Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1219 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.G1219E(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) AACTCCGATTCCCCCCGGCTC 0.582 7 1037 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63149668 63149669 + Frame_Shift_Ins INS - - A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr11:63149668_63149669insA ENST00000279178.3 + 6 1241_1242 c.992_993insA c.(991-993)gcafs p.A331fs SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 331 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGGAGGCAGCACAAAAAAAAA 0.406 7 887 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 14 229 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del 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 7 201 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr12:6711546delT ENST00000309577.6 - 3 381 c.218delA c.(217-219)agfs p.K73fs CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs|CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 73 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 central_nervous_system(2) 2 ACTCACCTCCTTTTTTTGGCG 0.468 9 1129 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 547 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46542016 46542017 + Frame_Shift_Del DEL CT CT - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr13:46542016_46542017delCT ENST00000242848.4 - 15 4291_4292 c.3943_3944delAG c.(3943-3945)gfs p.R1316fs ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1316 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) cgtatctctcctctctctctcg 0.495 8 495 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 9 373 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45645955 45645955 + Frame_Shift_Del DEL A A - rs143681767 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr14:45645955delA ENST00000267430.5 + 14 4083 c.3998delA c.(3997-3999)cafs p.Q1333fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.Q1307fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1333 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTACCAGTGCAAAAAAAAGTT 0.328 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 289 --- --- --- --- RP11-643G16.4 0 broad.mit.edu 37 14 68082826 68082827 + RNA INS - - T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr14:68082826_68082827insT ENST00000559968.1 + 0 1181_1182 TTCGAGTGCAGTTTTTTTTCTT 0.351 8 380 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25328849 25328850 + RNA DEL AG AG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr15:25328849_25328850delAG ENST00000546682.1 + 0 320 SNHG14_ENST00000549804.2_RNA NR_003361.1 ATCAGGGGCTAGAGAGAGAGAC 0.460 8 999 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 11 515 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65943128 65943130 + In_Frame_Del DEL GAG GAG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr15:65943128_65943130delGAG ENST00000261892.6 + 7 2928_2930 c.2641_2643delGAG c.(2641-2643)del p.E890del SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000449142.2_3'UTR NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 890 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 gcaggaggaagaggaggaggagg 0.562 7 140 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 7 28 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 8 441 --- --- --- --- AFG3L1P 0 broad.mit.edu 37 16 90053811 90053811 + RNA DEL A A - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr16:90053811delA ENST00000437774.1 + 0 731 NR_003226.1 gaggaggtggaggaggtggag 0.637 3 6 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 9 278 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 11 414 --- --- --- --- NAPSA 9476 broad.mit.edu 37 19 50868836 50868838 + In_Frame_Del DEL GCA GCA - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr19:50868836_50868838delGCA ENST00000253719.2 - 1 249_251 c.41_43delTGC c.(40-45)cct>c p.LP14del NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 14 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) TTcagcagaggcagcagcagcag 0.596 7 137 --- --- --- --- BRSK1 84446 broad.mit.edu 37 19 55815036 55815036 + Splice_Site DEL C C - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr19:55815036delC ENST00000309383.1 + 12 1405 c.1126_splice c.e12-1 p.D376_splice BRSK1_ENST00000590333.1_Splice_Site_p.D392_splice|BRSK1_ENST00000326848.7_Splice_Site_p.D71_splice NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 376 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.R379fs*9(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GTCCCTCAGACCCCCCCCGGA 0.582 9 382 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146805 21146805 + RNA DEL G G - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr20:21146805delG ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA TTTTTTTTTTGTCCATGAGGC 0.383 10 97 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25657231 25657232 + Frame_Shift_Del DEL TG TG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr20:25657231_25657232delTG ENST00000376436.1 - 4 1231_1232 c.692_693delCA c.(691-693)afs p.T231fs RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTTCTCTCCTGTGTGTGTGTT 0.510 7 464 --- --- --- --- NFATC2 4773 broad.mit.edu 37 20 50092010 50092010 + Frame_Shift_Del DEL T T - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr20:50092010delT ENST00000371564.3 - 4 1739 c.1520delA c.(1519-1521)acfs p.N508fs NFATC2_ENST00000396009.3_Frame_Shift_Del_p.N508fs|NFATC2_ENST00000414705.1_Frame_Shift_Del_p.N488fs NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 508 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CCTCATGTTGTTTTTGGGCTC 0.572 9 640 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del P57071 PRD15_HUMAN PR domain containing 15 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCTGTACATCTGCTGCTGCTGC 0.611 8 547 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 8 416 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 7 361 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350711 50350713 + In_Frame_Del DEL TCC TCC - rs6614551 TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chrX:50350711_50350713delTCC ENST00000376020.2 - 6 3454_3456 c.3429_3431delGGA c.(3427-3432)gaa>ga p.EE1149del SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1149 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ctcttcctcttcctcttcttctt 0.547 16 88 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 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 8 409 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del 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) 8 701 --- --- --- --- NKAP 79576 broad.mit.edu 37 X 119072752 119072753 + Frame_Shift_Del DEL TC TC - TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68e58ead-3fcd-4072-a3be-7e7cb85bdd1b 7675d2ec-b443-4165-840c-260d72e921e9 g.chrX:119072752_119072753delTC ENST00000371410.3 - 2 573_574 c.407_408delGA c.(406-408)afs p.R136fs NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 136 negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 ATTCTCCAATTCTCTCTCTCTC 0.322 7 897 --- --- --- ---