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 OGDH 4967 broad.mit.edu 37 7 44663986 44663986 + Missense_Mutation SNP C C T rs150057913 TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr7:44663986C>T ENST00000222673.5 + 2 86 c.44C>T c.(43-45)aCg>aTg p.T15M OGDH_ENST00000449767.1_Missense_Mutation_p.T15M|OGDH_ENST00000447398.1_Missense_Mutation_p.T15M|OGDH_ENST00000444676.1_Missense_Mutation_p.T15M|OGDH_ENST00000443864.2_Missense_Mutation_p.T15M|OGDH_ENST00000439616.2_Missense_Mutation_p.T15M NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 15 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) AGGCCATTGACGGCTTCCCAG 0.408000 4 224 0 0 0.184627 0 0 FMN1 342184 broad.mit.edu 37 15 33260987 33260987 + Missense_Mutation SNP C C A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr15:33260987C>A ENST00000334528.9 - 4 2245 c.2246G>T c.(2245-2247)cGa>cTa p.R749L FMN1_ENST00000561249.1_Missense_Mutation_p.R874L|FMN1_ENST00000559047.1_Missense_Mutation_p.R972L NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 972 Mediates interaction with alpha-catenin (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) GGCTGGTTTTCGAGGACATTG 0.537000 4 244 0.184627 0.211428 0.184627 1 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 3 33 0 0 0.115264 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 235 0 0 0.184627 0 0 EBI3 10148 broad.mit.edu 37 19 4234672 4234672 + Missense_Mutation SNP G G T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr19:4234672G>T ENST00000221847.5 + 4 441 c.388G>T c.(388-390)Gac>Tac p.D130Y NM_005755.2 NP_005746.2 Q14213 IL27B_HUMAN Epstein-Barr virus induced 3 130 Fibronectin type-III 2. humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response extracellular space|plasma membrane cytokine activity|cytokine receptor activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18) AGTCAAGCCCGACCCTCCAGA 0.547000 8 274 0.000673444 0.000796909 0.361761 1 0 CDH13 1012 broad.mit.edu 37 16 83520201 83520201 + Missense_Mutation SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr16:83520201A>G ENST00000566620.1 + 7 1191 c.901A>G c.(901-903)Atc>Gtc p.I301V CDH13_ENST00000268613.10_Missense_Mutation_p.I348V|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.I262V NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 301 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CATGTTCTACATCGATCCTGA 0.493000 4 135 0 0 0.184627 0 0 TMEM89 440955 broad.mit.edu 37 3 48658391 48658391 + Missense_Mutation SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr3:48658391G>A ENST00000330862.3 - 2 462 c.364C>T c.(364-366)Ctc>Ttc p.L122F NM_001008269.1 NP_001008270.1 A2RUT3 TMM89_HUMAN transmembrane protein 89 122 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) ACCCCACGGAGCAGGGTGTGG 0.612000 3 118 0 0 0.150653 0 0 CROCCP2 0 broad.mit.edu 37 1 16945452 16945452 + RNA SNP C C T rs11260834 TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:16945452C>T ENST00000412962.1 - 0 2067 CTCCCTACGACGGCAGGCCTA 0.647000 20 124 0 0 0.639603 0 0 STUB1 10273 broad.mit.edu 37 16 732365 732365 + Splice_Site SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr16:732365G>A ENST00000565677.1 + 7 1179 c.570_splice c.e7-1 p.R191_splice LA16c-313D11.10_ENST00000567405.2_RNA|STUB1_ENST00000564370.1_Splice_Site_p.R191_splice|STUB1_ENST00000219548.4_Splice_Site_p.R263_splice|JMJD8_ENST00000293882.4_3'UTR|JMJD8_ENST00000412368.2_3'UTR|JMJD8_ENST00000454700.1_3'UTR Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 263 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) TCACTGCAGCGTGTGGGTCAT 0.617000 5 156 0 0 0.307466 0 0 COL6A3 1293 broad.mit.edu 37 2 238277411 238277411 + Silent SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr2:238277411G>A ENST00000295550.4 - 10 5147 c.4695C>T c.(4693-4695)tcC>tcT p.S1565S COL6A3_ENST00000347401.3_Silent_p.S1364S|COL6A3_ENST00000472056.1_Silent_p.S958S|COL6A3_ENST00000409809.1_Silent_p.S1359S|COL6A3_ENST00000346358.4_Silent_p.S1365S|COL6A3_ENST00000353578.4_Silent_p.S1359S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1565 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CAATGCCCGAGGAACGGATCA 0.582000 4 221 0 0 0.184627 0 0 CTNND1 1500 broad.mit.edu 37 11 57573460 57573460 + Missense_Mutation SNP A A C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr11:57573460A>C ENST00000524630.1 + 10 2342 c.1829A>C c.(1828-1830)aAt>aCt p.N610T CTNND1_ENST00000528232.1_Missense_Mutation_p.N509T|CTNND1_ENST00000529873.1_Missense_Mutation_p.N556T|CTNND1_ENST00000360682.6_Missense_Mutation_p.N610T|CTNND1_ENST00000527467.1_Missense_Mutation_p.N287T|CTNND1_ENST00000361332.4_Missense_Mutation_p.N610T|CTNND1_ENST00000529526.1_Missense_Mutation_p.N556T|CTNND1_ENST00000532649.1_Missense_Mutation_p.N556T|CTNND1_ENST00000530748.1_Missense_Mutation_p.N556T|CTNND1_ENST00000529986.1_Missense_Mutation_p.N509T|CTNND1_ENST00000532463.1_Missense_Mutation_p.N509T|CTNND1_ENST00000526938.1_Missense_Mutation_p.N610T|CTNND1_ENST00000533667.1_Missense_Mutation_p.N287T|CTNND1_ENST00000532787.1_Missense_Mutation_p.N509T|CTNND1_ENST00000532245.1_Missense_Mutation_p.N509T|CTNND1_ENST00000531014.1_Missense_Mutation_p.N287T|CTNND1_ENST00000525902.1_Missense_Mutation_p.N287T|CTNND1_ENST00000361796.4_Missense_Mutation_p.N610T|CTNND1_ENST00000361391.6_Missense_Mutation_p.N610T|CTNND1_ENST00000415361.2_Missense_Mutation_p.N509T|CTNND1_ENST00000526772.1_Missense_Mutation_p.N287T|CTNND1_ENST00000399050.4_Missense_Mutation_p.N610T|CTNND1_ENST00000426142.2_Missense_Mutation_p.N509T|CTNND1_ENST00000399039.4_Missense_Mutation_p.N610T|CTNND1_ENST00000358694.6_Missense_Mutation_p.N610T|CTNND1_ENST00000529919.1_Missense_Mutation_p.N610T|CTNND1_ENST00000532844.1_Missense_Mutation_p.N556T|CTNND1_ENST00000428599.2_Missense_Mutation_p.N610T|CTNND1_ENST00000530094.1_Missense_Mutation_p.N509T|CTNND1_ENST00000526357.1_Missense_Mutation_p.N556T|CTNND1_ENST00000528621.1_Missense_Mutation_p.N556T|CTNND1_ENST00000534579.1_Missense_Mutation_p.N556T O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 610 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) GTTGCCAACAATACTGGGCCA 0.498000 3 29 0 0 0.115264 0 0 CPE 1363 broad.mit.edu 37 4 166416761 166416761 + Missense_Mutation SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr4:166416761A>G ENST00000402744.4 + 8 1544 c.1264A>G c.(1264-1266)Aca>Gca p.T422A NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 422 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTATAAACTTACAGCCTCAGC 0.408000 10 181 0 0 0.387290 0 0 ANKRD32 84250 broad.mit.edu 37 5 94030836 94030836 + Missense_Mutation SNP C C A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr5:94030836C>A ENST00000265140.5 + 21 3415 c.2996C>A c.(2995-2997)aCc>aAc p.T999N ANKRD32_ENST00000493934.1_Intron NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 999 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CATAAAGAAACCACCAGTGTT 0.348000 7 78 2.27111e-07 2.73303e-07 0.411799 1 0 COL22A1 169044 broad.mit.edu 37 8 139890069 139890069 + Silent SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr8:139890069G>A ENST00000303045.6 - 3 1028 c.582C>T c.(580-582)tcC>tcT p.S194S COL22A1_ENST00000435777.1_Silent_p.S194S NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 194 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGACGTGGGCGGACTTGGGCT 0.672000 HNSCC(7;0.00092) 3 85 0 0 0.115264 0 0 DGCR8 54487 broad.mit.edu 37 22 20079439 20079439 + Missense_Mutation SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr22:20079439G>A ENST00000351989.3 + 7 1981 c.1552G>A c.(1552-1554)Gag>Aag p.E518K DGCR8_ENST00000383024.2_Missense_Mutation_p.E518K|DGCR8_ENST00000407755.1_Missense_Mutation_p.E518K NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 518 DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) CATCCTGCACGAGTACATGCA 0.463000 32 31 0 0 0.847076 0 0 LILRB5 0 broad.mit.edu 37 19 54754820 54754820 + Missense_Mutation SNP T T G rs429425 by1000genomes TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr19:54754820T>G ENST00000450632.1 - 13 1892 c.1815A>C c.(1813-1815)ttA>ttC p.L605F LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 440 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GAGTGAGAGGTAAGGAACGTG 0.607000 4 55 0 0 0.307466 0 0 NBEAP1 0 broad.mit.edu 37 15 20876452 20876452 + RNA SNP G G A rs6422239 by1000genomes TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr15:20876452G>A ENST00000556948.1 - 0 148 CTTTGCAGGTGTATGTATCCA 0.333000 4 66 0 0 0.184627 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 3 105 0 0 0.115264 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 3 58 0 0 0.115264 0 0 CYB5R2 51700 broad.mit.edu 37 11 7687683 7687683 + Splice_Site SNP A A C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr11:7687683A>C ENST00000533558.1 - 8 1213 c.658_splice c.e8+1 p.I219_splice CYB5R2_ENST00000524790.1_Splice_Site_p.I219_splice|CYB5R2_ENST00000299497.9_Splice_Site_p.I219_splice|CYB5R2_ENST00000299498.6_Splice_Site_p.I219_splice|CYB5R2_ENST00000528585.1_Intron Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase 2 219 sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATGTCGTACCAATGGGAGGCC 0.493000 OREG0020724 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 77 0 0 0.760397 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 130 0 0 0.115264 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 3 136 0 0 0.115264 0 0 AE000661.37 0 broad.mit.edu 37 14 22938320 22938320 + RNA SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr14:22938320A>G ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA|TRDV3_ENST00000535880.2_RNA TTACTTTGTCACACAGCGTGC 0.502000 20 17 0 0 0.667858 0 0 COL20A1 57642 broad.mit.edu 37 20 61956821 61956821 + Missense_Mutation SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr20:61956821G>A ENST00000422202.1 + 27 3412 c.3344G>A c.(3343-3345)gGa>gAa p.G1115E COL20A1_ENST00000435874.1_Missense_Mutation_p.G1115E|COL20A1_ENST00000358894.6_Missense_Mutation_p.G1108E|COL20A1_ENST00000326996.6_Missense_Mutation_p.G1140E Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 1108 Collagen-like 1. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GGAGAGAAGGGAGACCATGGG 0.667000 5 122 0 0 0.217242 0 0 CCDC15 80071 broad.mit.edu 37 11 124857562 124857562 + Silent SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr11:124857562A>G ENST00000529051.1 + 8 1699 c.1440A>G c.(1438-1440)ttA>ttG p.L480L CCDC15_ENST00000344762.5_Silent_p.L480L Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 480 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGAATTTTTTATCTAGAGACC 0.408000 3 164 0 0 0.184627 0 0 ZIC3 7547 broad.mit.edu 37 X 136649433 136649433 + Missense_Mutation SNP C C T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chrX:136649433C>T ENST00000287538.5 + 1 1133 c.583C>T c.(583-585)Cgt>Tgt p.R195C ZIC3_ENST00000370606.3_Missense_Mutation_p.R195C NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 195 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) GCTGTTCGGCCGTGCTGACCC 0.672000 4 112 0 0 0.217242 0 0 OR2M2 391194 broad.mit.edu 37 1 248344320 248344320 + Missense_Mutation SNP T T C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:248344320T>C ENST00000359682.2 + 1 1033 c.1033T>C c.(1033-1035)Tac>Cac p.Y345H NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 345 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATTGATTATGTACATTGCCTA 0.264000 4 146 0 0 0.150653 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 4 93 0 0 0.278610 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 Thr-rich. 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 TCATGGAAAAAGGGATAGCTG 0.522000 3 98 0 0 0.115264 0 0 KIF14 9928 broad.mit.edu 37 1 200539119 200539119 + Missense_Mutation SNP A A T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:200539119A>T ENST00000367350.4 - 23 4019 c.3581T>A c.(3580-3582)aTg>aAg p.M1194K NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1194 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TCTGTTCTTCATCAAACTCCT 0.289000 41 84 0 0 0.870114 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C C G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr10:37430948C>G ENST00000374660.1 + 7 1054 c.955C>G c.(955-957)Cca>Gca p.P319A ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGCCAGCAAAAGG 0.423000 4 137 0 0 0.184627 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 7 126 0 0 0.248553 0 0 STS 412 broad.mit.edu 37 X 7177465 7177465 + Missense_Mutation SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chrX:7177465A>G ENST00000217961.4 + 5 693 c.473A>G c.(472-474)tAt>tGt p.Y158C NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 158 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GGCTTCAATTATTTCTATGGG 0.522000 Ichthyosis 3 138 0 0 0.150653 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 3 61 0 0 0.184627 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 88 0 0 0.115264 0 0 DDX46 9879 broad.mit.edu 37 5 134094546 134094546 + Translation_Start_Site SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr5:134094546G>A ENST00000452510.2 + 0 76 DDX46_ENST00000354283.4_De_novo_Start_OutOfFrame NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTTGCCGGGCGTTGAGGGCAG 0.647000 OREG0016794 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 37 0 0 0.115264 0 0 TDRD1 56165 broad.mit.edu 37 10 115978234 115978234 + Silent SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr10:115978234A>G ENST00000251864.2 + 18 2538 c.2385A>G c.(2383-2385)gtA>gtG p.V795V TDRD1_ENST00000369282.1_Silent_p.V795V|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369280.1_Silent_p.V795V|TDRD1_ENST00000422662.1_Silent_p.V399V NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 795 Tudor 3. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) ATGTTAAAGTACATTTTGTGG 0.383000 6 199 0 0 0.278610 0 0 IK 3550 broad.mit.edu 37 5 140032663 140032663 + Missense_Mutation SNP A A T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr5:140032663A>T ENST00000417647.2 + 5 477 c.338A>T c.(337-339)gAt>gTt p.D113V IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 113 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAACAAAGATTATGAAGAA 0.502000 34 80 0 0 0.796494 0 0 RTN2 6253 broad.mit.edu 37 19 45996575 45996575 + Missense_Mutation SNP A A C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr19:45996575A>C ENST00000590526.1 - 5 1180 c.54T>G c.(52-54)atT>atG p.I18M RTN2_ENST00000245923.4_Missense_Mutation_p.I292M|RTN2_ENST00000344680.4_Intron|PPM1N_ENST00000401705.1_Intron O75298 RTN2_HUMAN reticulon 2 292 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) ACAATTCCAAAATTGGAACCG 0.502000 3 155 0 0 0.115264 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 11 132 0 0 0.411799 0 0 MUC2 4583 broad.mit.edu 37 11 1094843 1094843 + Silent SNP C C T rs41417150 by1000genomes TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr11:1094843C>T ENST00000441003.2 + 31 5958 c.5931C>T c.(5929-5931)aaC>aaT p.N1977N MUC2_ENST00000333592.6_Silent_p.N265N|MUC2_ENST00000361558.6_Silent_p.N115N NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 2017 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GTGTCCTGAACGACACCTACT 0.617000 6 352 0 0 0.248553 0 0 POTEC 388468 broad.mit.edu 37 18 14542798 14542798 + Silent SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr18:14542798G>A ENST00000358970.5 - 1 347 c.348C>T c.(346-348)aaC>aaT p.N116N POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 116 p.N116N(1) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGCGCCCACGTTGCTCTTGC 0.602000 4 181 0 0 0.335167 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178541107 178541107 + Missense_Mutation SNP G G A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr5:178541107G>A ENST00000251582.7 - 22 3498 c.3397C>T c.(3397-3399)Cgg>Tgg p.R1133W NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1133 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GGTGATGGCCGCACCTCCATG 0.587000 4 183 0 0 0.150653 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:145327548A>G ENST00000342960.5 + 32 4140 c.4105A>G c.(4105-4107)Aat>Gat p.N1369D NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1369 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGACTCACTGAATAGATGTTA 0.473000 2 12 0 0 0.115264 0 0 PDPR 55066 broad.mit.edu 37 16 70187304 70187304 + Missense_Mutation SNP A A T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr16:70187304A>T ENST00000288050.4 + 18 3020 c.2063A>T c.(2062-2064)cAt>cTt p.H688L PDPR_ENST00000567046.1_Missense_Mutation_p.H46L|PDPR_ENST00000398122.3_Missense_Mutation_p.H588L|PDPR_ENST00000568530.1_Missense_Mutation_p.H688L|PDPR_ENST00000542659.1_Missense_Mutation_p.H33L|PDPR_ENST00000562100.1_Intron NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 688 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) TACGCCCTGCATGTATACAAT 0.448000 10 47 0 0 0.361761 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 125 0 0 0.150653 0 0 OR5H15 403274 broad.mit.edu 37 3 97887879 97887879 + Silent SNP T T C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr3:97887879T>C ENST00000356526.2 + 1 336 c.336T>C c.(334-336)tgT>tgC p.C112C NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C112C(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CCACAGAATGTTTTCTCTTGG 0.378000 4 268 0 0 0.184627 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|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) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 90 204 2.48367e-54 3.04035e-54 0.870114 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 11 149 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152127881 152127884 + Frame_Shift_Del DEL TGTC TGTC - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:152127881_152127884delTGTC ENST00000316073.3 - 3 1755_1758 c.1691_1694delGACA c.(1690-1695)aafs p.RQ564fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 564 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GCTCTGGCCTTGTCTGTCTGTCTG 0.485 7 1465 --- --- --- --- PRRC2C 23215 broad.mit.edu 37 1 171511148 171511149 + Frame_Shift_Ins INS - - A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr1:171511148_171511149insA ENST00000367742.3 + 16 4785_4786 c.4543_4544insA c.(4543-4545)aaafs p.K1515fs PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.K1515fs|PRRC2C_ENST00000338920.4_Frame_Shift_Ins_p.K1513fs|PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.K1513fs Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1513 protein C-terminus binding AGAGAGGGATGAAAAAAAAAAT 0.391 7 108 --- --- --- --- ALPP 250 broad.mit.edu 37 2 233243529 233243531 + In_Frame_Del DEL TGC TGC - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr2:233243529_233243531delTGC ENST00000392027.2 + 1 286_288 c.17_19delTGC c.(16-21)atg>a p.ML6del NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 6 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGGCCCTGCAtgctgctgctgct 0.616 10 108 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 8 139 --- --- --- --- FXR1 0 broad.mit.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr3:180666228delA ENST00000357559.4 + 5 748 c.364delA c.(364-366)aafs p.K123fs FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 123 apoptosis|cell differentiation|muscle organ development nucleolus|polysome p.N124fs*14(1) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TAAAACTGTCAAAAAAAATAC 0.333 7 151 --- --- --- --- RP11-6N13.1 0 broad.mit.edu 37 5 104043368 104043370 + RNA DEL GAG GAG - rs71588364 TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr5:104043368_104043370delGAG ENST00000503650.1 - 0 328 ggaggaggaagaggaggaggagg 0.429 3 5 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 8 23 --- --- --- --- GABRR2 2570 broad.mit.edu 37 6 89975427 89975429 + In_Frame_Del DEL AAG AAG - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr6:89975427_89975429delAAG ENST00000402938.3 - 7 925_927 c.792_794delCTT c.(790-795)ttg>tt p.FL264del GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 289 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TGTTTGGAGCAAGAAGAAGAAGA 0.517 7 121 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr7:24705666delA ENST00000396475.2 + 9 1209 c.910delA c.(910-912)aafs p.K308fs MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 308 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TATAAGTAGCAAAAAAAAGAA 0.299 8 273 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 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 7 125 --- --- --- --- PTCD1 26024 broad.mit.edu 37 7 99032605 99032607 + In_Frame_Del DEL CTC CTC - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr7:99032605_99032607delCTC ENST00000292478.4 - 2 509_511 c.259_261delGAG c.(259-261)del p.E87del PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 p.E87K(1) endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCCCAAAACTCTCCTCCTCCTCC 0.606 7 241 --- --- --- --- C7orf55-LUC7L2 0 broad.mit.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr7:139094365_139094366delAG ENST00000354926.4 + 7 1098_1099 c.744_745delAG c.(742-747)gaagfs p.EE248fs C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs NM_016019.3 NP_057103.2 AACGAAGAGAAGAGAGAGAGAG 0.391 8 59 --- --- --- --- RP11-509J21.1 0 broad.mit.edu 37 9 3661724 3661726 + RNA DEL CTG CTG - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr9:3661724_3661726delCTG ENST00000423112.2 + 0 394 gctgttatcactgctgctgctgc 0.507 2 4 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 7 116 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 12 372 --- --- --- --- POLL 27343 broad.mit.edu 37 10 103345131 103345133 + In_Frame_Del DEL GGA GGA - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr10:103345131_103345133delGGA ENST00000370162.3 - 4 1007_1009 c.513_515delTCC c.(511-516)ccc>cc p.PP171del POLL_ENST00000456836.2_Intron|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|POLL_ENST00000436284.2_Intron|POLL_ENST00000370158.3_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del|POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|DPCD_ENST00000470165.1_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 171 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) AGGCCTGGTGGGAGGAGGAGGAG 0.591 DNA polymerases (catalytic subunits) 8 160 --- --- --- --- TCF7L2 6934 broad.mit.edu 37 10 114925316 114925317 + Frame_Shift_Ins INS - - A rs61724286 TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr10:114925316_114925317insA ENST00000545257.1 + 15 1952_1953 c.1445_1446insA c.(1444-1446)aaafs p.K482fs TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000369389.1_Frame_Shift_Ins_p.K152fs|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Ins_p.K465fs|TCF7L2_ENST00000542695.1_Frame_Shift_Ins_p.K198fs|TCF7L2_ENST00000355717.4_Frame_Shift_Ins_p.K465fs|TCF7L2_ENST00000538897.1_Frame_Shift_Ins_p.K458fs|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000536810.1_Frame_Shift_Ins_p.K465fs|TCF7L2_ENST00000355995.4_Frame_Shift_Ins_p.K482fs|TCF7L2_ENST00000369397.4_Frame_Shift_Ins_p.K459fs Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 482 Promoter-specific activation domain. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) GTTTCTAGGAGAAAAAAAAAGT 0.520 T VTI1A colorectal 12 301 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000529259.1_3'UTR NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 9 238 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 11 753 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|RP11-123K3.4_ENST00000548184.1_RNA|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 7 144 --- --- --- --- CUX2 23316 broad.mit.edu 37 12 111758235 111758237 + In_Frame_Del DEL TCC TCC - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr12:111758235_111758237delTCC ENST00000261726.6 + 17 2576_2578 c.2422_2424delTCC c.(2422-2424)del p.S813del NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 813 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCCTCGCTGTCCTCCTCCTCCT 0.749 10 113 --- --- --- --- SBNO1 55206 broad.mit.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr12:123794283delT ENST00000420886.2 - 25 3415 c.3416delA c.(3415-3417)atfs p.N1139fs SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1139 ATP binding|DNA binding|hydrolase activity p.N1138fs*9(1) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATATCTTCCATTTTTTTTGGC 0.388 12 200 --- --- --- --- RXFP2 122042 broad.mit.edu 37 13 32376428 32376429 + Frame_Shift_Ins INS - - A TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr13:32376428_32376429insA ENST00000298386.2 + 18 2222_2223 c.2151_2152insA c.(2149-2154)ataaaafs p.IK717fs RXFP2_ENST00000380314.1_Frame_Shift_Ins_p.IK693fs NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 717 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTTTCAAAATTAAAAAAAAAAG 0.351 7 197 --- --- --- --- COL4A1 1282 broad.mit.edu 37 13 110857850 110857850 + Frame_Shift_Del DEL T T - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr13:110857850delT ENST00000375820.4 - 16 1015 c.894delA c.(892-894)aafs p.K298fs COL4A1_ENST00000543140.1_Frame_Shift_Del_p.K298fs NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 298 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CGGGACTCCCTTTTTCCCCTT 0.463 9 429 --- --- --- --- IQGAP1 8826 broad.mit.edu 37 15 91019925 91019925 + Frame_Shift_Del DEL A A - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr15:91019925delA ENST00000268182.5 + 24 2939 c.2815delA c.(2815-2817)aafs p.K940fs IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 940 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAAACTTACCAAAAAAAATAA 0.363 7 205 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gcc>gc p.AS587del SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 587 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 7 159 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30736370 30736371 + Frame_Shift_Ins INS - - C TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr16:30736370_30736371insC ENST00000262518.4 + 25 6010_6011 c.5625_5626insC c.(5623-5628)caccccfs p.HP1875fs SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1875 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTCGACGCCAGCCCCCCCCACC 0.569 13 356 --- --- --- --- ACD 65057 broad.mit.edu 37 16 67693646 67693648 + In_Frame_Del DEL GCA GCA - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr16:67693646_67693648delGCA ENST00000219251.8 - 3 873_875 c.542_544delTGC c.(541-546)cag>c p.LQ181del ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 184 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding p.L181delL(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCGCAGTCCTGCAGCAGCAGCAG 0.650 8 384 --- --- --- --- NUDT19 390916 broad.mit.edu 37 19 33200189 33200190 + Frame_Shift_Del DEL CT CT - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr19:33200189_33200190delCT ENST00000397061.3 + 2 813_814 c.813_814delCT c.(811-816)gcctfs p.AS271fs NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 271 mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) CAAACTTTGCCTCTCTCTCTGA 0.450 7 328 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54649671 54649671 + Frame_Shift_Del DEL T T - rs36665 byFrequency TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr19:54649671delT ENST00000406403.1 + 8 2332 c.729delT c.(727-729)ccfs p.P244fs CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs|CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 244 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCACCTCCCCTCCCAGCCACA 0.632 7 253 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 7 193 --- --- --- --- DDX27 55661 broad.mit.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chr20:47858504delA ENST00000371764.4 + 17 2074 c.2065delA c.(2065-2067)aafs p.K691fs ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 691 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.K691fs*4(3) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAAGGATGCCAAAAAAAAGGG 0.488 11 168 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 7 86 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 8 29 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-EM-A3AP-01A-12D-A20C-08 TCGA-EM-A3AP-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ca262c-a3df-4cca-94ed-46e626da1321 fcd4c6c0-a804-409c-a0d3-950106b65912 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 12 544 --- --- --- ---