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 SLC22A20 0 broad.mit.edu 37 11 64981812 64981812 + RNA SNP G G A TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr11:64981812G>A ENST00000525437.1 + 0 430 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 TCTGGTGTGTGAGGCCCGCAC 0.667000 23 53 0 0 1 0 0 REG1B 5968 broad.mit.edu 37 2 79312700 79312700 + Silent SNP G G A TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr2:79312700G>A ENST00000305089.3 - 5 431 c.351C>T c.(349-351)tcC>tcT p.S117S NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 117 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 AGGAGACCAGGGACCCACTAC 0.547000 14 150 0 0 1 0 0 HIST1H4G 8369 broad.mit.edu 37 6 26246947 26246947 + Missense_Mutation SNP C C T TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr6:26246947C>T ENST00000244537.4 - 1 312 c.259G>A c.(259-261)Gtg>Atg p.V87M NM_003547.2 NP_003538.1 Q99525 H4G_HUMAN histone cluster 1, H4g 87 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) ACGTAGACCACGGCCATGGCG 0.572000 49 113 0 0 1 0 0 CACUL1 143384 broad.mit.edu 37 10 120450854 120450854 + Silent SNP C C T TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr10:120450854C>T ENST00000369151.3 - 7 1431 c.948G>A c.(946-948)gcG>gcA p.A316A CACUL1_ENST00000544392.1_5'UTR NM_153810.4 NP_722517.3 CDK2-associated, cullin domain 1 CAGATTCCACCGCCGGAGGGA 0.353000 20 536 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152815009 152815009 + Missense_Mutation SNP G G C TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chrX:152815009G>C ENST00000370186.1 + 9 1677 c.1351G>C c.(1351-1353)Ggc>Cgc p.G451R ATP2B3_ENST00000370181.2_Missense_Mutation_p.G451R|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G451R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G465R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G465R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G465R Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 465 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGAGACCATGGGCAACGCCAC 0.577000 34 448 0 0 1 0 0 SH3RF3 344558 broad.mit.edu 37 2 110065657 110065657 + Silent SNP G G A TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr2:110065657G>A ENST00000309415.6 + 8 1860 c.1860G>A c.(1858-1860)cgG>cgA p.R620R NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 620 zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 CTCAGGACCGGCCAACTGCCA 0.657000 4 56 0 0 1 0 0 ZNHIT2 741 broad.mit.edu 37 11 64884900 64884900 + Missense_Mutation SNP C C T TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr11:64884900C>T ENST00000310597.4 - 1 270 c.226G>A c.(226-228)Gag>Aag p.E76K AP003068.12_ENST00000527789.1_RNA NM_014205.2 NP_055020.1 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT-type containing 2 76 metal ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 TCCTCGGTCTCGCGTTGCTGA 0.701000 3 14 0 0 1 0 0 GLUD1 2746 broad.mit.edu 37 10 88854287 88854287 + Silent SNP G G A TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr10:88854287G>A ENST00000277865.4 - 1 336 c.240C>T c.(238-240)atC>atT p.I80I NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 80 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding p.I80I(1) endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) TGTCCTCCACGATGCTGGCGC 0.672000 113 249 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1605959 1605959 + Missense_Mutation SNP T T G TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr11:1605959T>G ENST00000382171.2 - 1 554 c.521A>C c.(520-522)aAg>aCg p.K174T KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 174 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ACAGCCCCCCTTGGAGCCCCC 0.677000 22 418 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26529693 26529693 + Missense_Mutation SNP G G C TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr11:26529693G>C ENST00000256737.3 + 5 1327 c.475G>C c.(475-477)Gat>Cat p.D159H ANO3_ENST00000537978.1_Missense_Mutation_p.D143H|ANO3_ENST00000525139.1_Missense_Mutation_p.D143H|ANO3_ENST00000531568.1_Missense_Mutation_p.D13H|ANO3_ENST00000531646.1_Missense_Mutation_p.D159H NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 159 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TCTGTTCAAAGATGGCAAAAA 0.333000 8 156 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 8 75 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10524303 10524303 + Silent SNP G G A TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr11:10524303G>A ENST00000444303.2 + 12 1873 c.1401G>A c.(1399-1401)caG>caA p.Q467Q AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Silent_p.Q635Q NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 626 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) ACCTTGCTCAGATCCCCATTG 0.483000 23 573 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505830 195505830 + Silent SNP G G C TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr3:195505830G>C ENST00000463781.3 - 2 13080 c.12621C>G c.(12619-12621)acC>acG p.T4207T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4207T|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.T4207T(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CAGGAAGAGGGGTGGCGTGAC 0.602000 7 14 0 0 1 0 0 TSPAN10 83882 broad.mit.edu 37 17 79609410 79609410 + RNA SNP G G T rs7406219 by1000genomes TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr17:79609410G>T ENST00000328585.4 + 0 62 NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CGGCGCCTGTGCTGGGGGCTT 0.657000 11 219 3.07112e-06 3.07112e-06 1 1 0 ZCCHC2 54877 broad.mit.edu 37 18 60242771 60242771 + Missense_Mutation SNP G G A TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr18:60242771G>A ENST00000269499.5 + 13 3875 c.3457G>A c.(3457-3459)Gcc>Acc p.A1153T ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A832T NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 1153 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GTCCATGGAGGCCAATCAACA 0.453000 35 102 0 0 1 0 0 RBFADN 0 broad.mit.edu 37 18 77794529 77794529 + Missense_Mutation SNP C C G TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr18:77794529C>G ENST00000569722.1 + 1 184 c.34C>G c.(34-36)Cgc>Ggc p.R12G RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.R12G|RBFA_ENST00000306735.5_Missense_Mutation_p.R12G GTGGCGCTCCCGCGCGGGTCT 0.716000 15 32 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896692 151896692 + RNA SNP G G A TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chrX:151896692G>A ENST00000361201.4 - 0 248 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 CCCCAGGACAGTGaaggcagg 0.512000 115 233 0 0 1 0 0 PAX5 5079 broad.mit.edu 37 9 36923383 36923383 + Silent SNP C C A TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr9:36923383C>A ENST00000358127.4 - 7 953 c.879G>T c.(877-879)gtG>gtT p.V293V PAX5_ENST00000414447.1_Silent_p.V250V|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000522003.1_Silent_p.V185V|PAX5_ENST00000377853.2_Silent_p.V293V|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520281.1_Silent_p.V250V|PAX5_ENST00000377847.2_Silent_p.V293V|PAX5_ENST00000446742.1_Silent_p.V227V|PAX5_ENST00000377852.2_Silent_p.V293V|PAX5_ENST00000523145.1_Silent_p.V185V NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 293 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(23) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GCGGGCCTGGCACACTGCTCC 0.617000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 16 237 1.67942e-08 1.76781e-08 1 1 0 TDRD7 23424 broad.mit.edu 37 9 100227132 100227132 + Missense_Mutation SNP G G A TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr9:100227132G>A ENST00000355295.4 + 8 1746 c.1451G>A c.(1450-1452)gGc>gAc p.G484D TDRD7_ENST00000422139.2_Missense_Mutation_p.G410D NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 484 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) AGGTATGTGGGCAAAGACTAT 0.388000 66 168 0 0 1 0 0 NSUN5P1 0 broad.mit.edu 37 7 75044431 75044431 + RNA SNP C C T rs236650 by1000genomes TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr7:75044431C>T ENST00000393633.2 + 0 3599 large_intestine(1)|lung(1) 2 GCTGGACCCCCGCCAGGCTCC 0.632000 6 123 0 0 1 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700532 700532 + RNA SNP T T A TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr1:700532T>A ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453000 5 13 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64491038 64491038 + Missense_Mutation SNP G G A TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr12:64491038G>A ENST00000355086.3 + 15 2220 c.1696G>A c.(1696-1698)Gat>Aat p.D566N SRGAP1_ENST00000543397.1_Missense_Mutation_p.D503N|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D543N NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 566 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TCCTTTGGCTGATGACCAGAG 0.358000 33 105 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25324141 25324141 + RNA SNP C C T rs4344720 by1000genomes TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr15:25324141C>T ENST00000549804.2 + 0 1376 TCCCTTCATACGGTATGTGTT 0.473000 8 163 0 0 1 0 0 RP11-423H2.1 0 broad.mit.edu 37 5 177311024 177311024 + RNA SNP C C T TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr5:177311024C>T ENST00000506672.1 + 0 1321 NR_003615.2 TTGCCCCCAGCATGAGTTAAC 0.478000 6 15 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 10 944 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710017 38710019 + RNA DEL AAT AAT - rs2005502 by1000genomes TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr2:38710017_38710019delAAT ENST00000417039.1 - 0 696 TTCTTtaaaaaataaataaataa 0.246 3 3 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 11 698 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24511559 24511560 + Frame_Shift_Ins INS - - GCTTTGA TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr5:24511559_24511560insGCTTTGA ENST00000264463.4 - 6 1385_1386 c.878_879insTCAAAGC c.(877-879)gacfs p.D293fs NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 293 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CAGCATCAGTTGCTTTGACACT 0.426 HNSCC(23;0.051) 7 308 --- --- --- --- AC073316.1 0 broad.mit.edu 37 7 3337336 3337338 + RNA DEL GAG GAG - rs71881628 TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr7:3337336_3337338delGAG ENST00000437354.1 - 0 224 agtggaagaagaggaggaggagg 0.448 3 4 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 8 79 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr7:100479332delG ENST00000388793.4 + 4 524 c.304delG c.(304-306)ggfs p.G106fs SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 106 G -> GG (in Ref. 3; CAB46374). cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GCCCTATGCTGGGGGGGGTGG 0.607 7 164 --- --- --- --- XRCC2 7516 broad.mit.edu 37 7 152346220 152346220 + Frame_Shift_Del DEL A A - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr7:152346220delA ENST00000359321.1 - 3 435 c.350delT c.(349-351)tgfs p.L117fs XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 117 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity p.V118fs*5(1) NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) GCAGTACACCAAAAAAAATCT 0.393 Homologous recombination 7 301 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 9 124 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906583 35906584 + In_Frame_Ins INS - - CCACCA rs112821450 by1000genomes TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr9:35906583_35906584insCCACCA ENST00000354323.2 + 1 395_396 c.299_300insCCACCA c.(298-300)cca>cCCACCAca p.100_101insTT NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 100 His-rich. integral to membrane p.L100H(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 cctcaccacctccaccaccacc 0.668 10 44 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 8 360 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88754812 88754813 + RNA INS - - ATA rs71019443 TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr10:88754812_88754813insATA ENST00000444431.1 + 0 335 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AATTGATGATGataataatagt 0.292 4 7 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 7 459 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 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 AGCAGGAAGTtgctgctgctgct 0.576 10 370 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 21 188 --- --- --- --- EXOC3L4 91828 broad.mit.edu 37 14 103570295 103570295 + Frame_Shift_Del DEL C C - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr14:103570295delC ENST00000380069.3 + 3 1143 c.1067delC c.(1066-1068)gcfs p.A356fs NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 356 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 TTCCTGGGCGCCCCGGGGCTG 0.721 2 4 --- --- --- --- RP11-566K19.6 0 broad.mit.edu 37 15 23108635 23108636 + RNA INS - - T rs149146243 by1000genomes TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr15:23108635_23108636insT ENST00000557922.1 - 0 378 NR_040057.1 caatatttaaatttttttaatt 0.262 4 4 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25326493 25326494 + RNA DEL CT CT - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr15:25326493_25326494delCT ENST00000546682.1 + 0 71 SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 TGAGTGAAAACTCTATACCGTC 0.465 8 863 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 4 3 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 8 311 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr16:20370700_20370702delCCA ENST00000302451.4 - 12 1942_1944 c.1694_1696delTGG c.(1693-1698)gct>g p.VA565del NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 565 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTGGCTTAGCCACCACCACCAC 0.478 7 699 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 8 359 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 13 314 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC TGC - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr17:16335490_16335492delTGC ENST00000338560.7 + 12 2264_2266 c.1865_1867delTGC c.(1864-1869)gtg>g p.VL622del TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 622 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 9 279 --- --- --- --- SNORD3A 0 broad.mit.edu 37 17 19091424 19091425 + RNA INS - - T TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr17:19091424_19091425insT ENST00000365494.1 + 0 96_97 gagaggtagcgttttctcctga 0.490 8 1882 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112402 112405 + RNA DEL AACC AACC - rs113232824 TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr18:112402_112405delAACC ENST00000576266.1 + 0 36_39 CCCTGCCCCGAACCACCCGACCCC 0.711 8 18 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-ET-A40T-01A-11D-A23M-08 TCGA-ET-A40T-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcaa7922-868c-471a-b78c-f22fba89fbbc 2ca23f5a-c310-4dc8-9416-444b90fcbf71 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 9 180 --- --- --- ---