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 KIAA0355 9710 broad.mit.edu 37 19 34843552 34843552 + Splice_Site SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr19:34843552G>C ENST00000299505.6 + 14 3778 c.2905G>C c.(2905-2907)Gat>Cat p.D969H AC010504.2_ENST00000591311.1_RNA NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 969 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) TGTTTCTCAGGATAACAAAAC 0.562000 26 22 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103349883 103349883 + Nonsense_Mutation SNP G G T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr11:103349883G>T ENST00000375735.2 + 89 12970 c.12826G>T c.(12826-12828)Gaa>Taa p.E4276* DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.E889*|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E4283* NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4276 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CACAAGTGCTGAAAGGGATCG 0.403000 12 26 4.36969e-10 4.57777e-10 1 1 0 TIAL1 7073 broad.mit.edu 37 10 121336637 121336637 + Missense_Mutation SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr10:121336637G>C ENST00000369092.4 - 11 1755 c.447C>G c.(445-447)tgC>tgG p.C149W TIAL1_ENST00000369093.2_Missense_Mutation_p.C289W|TIAL1_ENST00000436547.2_Missense_Mutation_p.C272W|TIAL1_ENST00000463089.2_5'UTR Q01085 TIAR_HUMAN TIA1 cytotoxic granule-associated RNA binding protein-like 1 272 RRM 2. apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 13 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) TACCCCAATAGCATTTAACCA 0.363000 28 24 0 0 1 0 0 OR52W1 120787 broad.mit.edu 37 11 6220918 6220918 + Silent SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr11:6220918G>A ENST00000311352.2 + 1 543 c.465G>A c.(463-465)ctG>ctA p.L155L NM_001005178.1 NP_001005178.1 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, member 1 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6) 11 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCTGGCACTGAAAGCTGTGG 0.552000 16 17 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62388770 62388770 + Missense_Mutation SNP T T C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr3:62388770T>C ENST00000383710.4 - 29 4217 c.3868A>G c.(3868-3870)Att>Gtt p.I1290V CADPS_ENST00000283269.9_Missense_Mutation_p.I1251V|CADPS_ENST00000357948.3_Missense_Mutation_p.I1211V NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1290 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) ACCATCCTAATTAGTGTTTTC 0.368000 19 25 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39846179 39846179 + Splice_Site SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr6:39846179G>A ENST00000538976.1 + 13 1542 c.e13-1 DAAM2_ENST00000274867.4_Splice_Site|DAAM2_ENST00000398904.2_Splice_Site NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) CCCCATTCCAGAACACATGGA 0.537000 5 5 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27087932 27087932 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr1:27087932C>T ENST00000324856.7 + 6 2590 c.2219C>T c.(2218-2220)tCc>tTc p.S740F ARID1A_ENST00000457599.2_Missense_Mutation_p.S740F|ARID1A_ENST00000374152.2_Missense_Mutation_p.S357F NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 740 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ATGCATCCTTCCATGAACCAA 0.552000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 16 7 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130660 45130660 + Missense_Mutation SNP T T G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr20:45130660T>G ENST00000457685.2 - 6 2527 c.1204A>C c.(1204-1206)Aaa>Caa p.K402Q ZNF334_ENST00000593880.1_Missense_Mutation_p.K463Q|ZNF334_ENST00000347606.4_Missense_Mutation_p.K440Q Q9HCZ1 ZN334_HUMAN zinc finger protein 334 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CATAAAAATTTTCCACATTGA 0.373000 4 129 0 0 1 0 0 ANAPC5 51433 broad.mit.edu 37 12 121746393 121746393 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr12:121746393G>A ENST00000261819.3 - 17 2279 c.2158C>T c.(2158-2160)Ctc>Ttc p.L720F ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.L707F|ANAPC5_ENST00000441917.2_Missense_Mutation_p.L608F|ANAPC5_ENST00000344395.4_Missense_Mutation_p.L608F|ANAPC5_ENST00000535482.1_Missense_Mutation_p.L386F NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 720 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GTATGGTAGAGTCTGGCCTGG 0.542000 42 63 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105406683 105406683 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr14:105406683C>G ENST00000333244.5 - 7 15224 c.15105G>C c.(15103-15105)aaG>aaC p.K5035N AHNAK2_ENST00000557457.1_Missense_Mutation_p.K33N NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5035 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGACCCCACTCTTAGAAGCCT 0.542000 40 52 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48628108 48628108 + Missense_Mutation SNP C C A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr17:48628108C>A ENST00000006658.6 + 11 1333 c.1213C>A c.(1213-1215)Cca>Aca p.P405T SPATA20_ENST00000393244.3_Missense_Mutation_p.P345T|SPATA20_ENST00000356488.4_Missense_Mutation_p.P389T|SPATA20_ENST00000511937.1_3'UTR NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 389 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) AGACTCGCCCCCAGAGCGGGG 0.672000 OREG0024568 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 42 1.5548e-18 1.64187e-18 1 1 0 PRUNE 58497 broad.mit.edu 37 1 151006312 151006312 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr1:151006312C>G ENST00000271620.3 + 8 1120 c.964C>G c.(964-966)Cca>Gca p.P322A PRUNE_ENST00000271619.8_Missense_Mutation_p.P110A|PRUNE_ENST00000368936.1_Missense_Mutation_p.P140A|PRUNE_ENST00000368935.1_Missense_Mutation_p.P37A|PRUNE_ENST00000368934.1_Missense_Mutation_p.P87A|PRUNE_ENST00000368937.1_Missense_Mutation_p.P87A NM_021222.1 NP_067045.1 Q86TP1 PRUNE_HUMAN prune exopolyphosphatase 322 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTCCCACTCTCCACCCCTGAA 0.512000 18 44 0 0 1 0 0 LCMT2 9836 broad.mit.edu 37 15 43622444 43622444 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr15:43622444G>A ENST00000305641.5 - 1 359 c.244C>T c.(244-246)Cgc>Tgc p.R82C LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 82 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) ATCTGCGCGCGAAGCGCGGCC 0.652000 16 24 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118657936 118657936 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr1:118657936C>G ENST00000336338.5 - 4 509 c.444G>C c.(442-444)aaG>aaC p.K148N NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 148 Lys-rich. cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ACAGTACCTTCTTTTCATTTT 0.428000 36 46 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235949957 235949957 + Missense_Mutation SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr2:235949957G>C ENST00000409212.1 + 4 1051 c.544G>C c.(544-546)Gat>Cat p.D182H SH3BP4_ENST00000344528.4_Missense_Mutation_p.D182H|SH3BP4_ENST00000392011.2_Missense_Mutation_p.D182H Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 182 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) GCCCAGCCTGGATGAGCTGAA 0.493000 3 75 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113377794 113377794 + Missense_Mutation SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr3:113377794G>C ENST00000316407.4 - 7 3145 c.2735C>G c.(2734-2736)tCt>tGt p.S912C KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.S912C NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 912 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 ATTAGGGGTAGAATCTTTGGA 0.428000 47 69 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170097457 170097457 + Missense_Mutation SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr2:170097457G>C ENST00000443831.1 - 23 3809 c.3675C>G c.(3673-3675)ttC>ttG p.F1225L LRP2_ENST00000263816.3_Intron P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 0 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTACTGTTCAGAATGAGTTTA 0.468000 27 30 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2825535 2825535 + Missense_Mutation SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chrX:2825535G>C ENST00000381154.1 - 10 1634 c.1559C>G c.(1558-1560)tCc>tGc p.S520C NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 520 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGGGTCCCTGGAGAGGTCAAA 0.697000 3 0 0 0 1 0 0 TRAM2 9697 broad.mit.edu 37 6 52370505 52370505 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr6:52370505C>T ENST00000182527.3 - 9 766 c.767G>A c.(766-768)cGc>cAc p.R256H EFHC1_ENST00000433625.2_Intron NM_012288.3 NP_036420.1 Q15035 TRAM2_HUMAN translocation associated membrane protein 2 256 TLC. collagen biosynthetic process|protein transport|transmembrane transport integral to membrane protein binding p.R256L(1) endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1) 13 Lung NSC(77;0.109) GATGAAGAGGCGGGTAACCCC 0.537000 20 29 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36362800 36362800 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr19:36362800G>A ENST00000221891.4 + 6 904 c.712G>A c.(712-714)Gag>Aag p.E238K APLP1_ENST00000586861.1_Missense_Mutation_p.E232K|APLP1_ENST00000537454.2_Missense_Mutation_p.E199K NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 238 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGCAGAGTAGAGGGGGCTGA 0.632000 21 46 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9862756 9862756 + Silent SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr16:9862756G>A ENST00000396573.2 - 13 2856 c.2547C>T c.(2545-2547)ttC>ttT p.F849F GRIN2A_ENST00000330684.3_Silent_p.F849F|GRIN2A_ENST00000396575.2_Silent_p.F849F|GRIN2A_ENST00000562109.1_Silent_p.F849F|GRIN2A_ENST00000535259.1_Silent_p.F692F|GRIN2A_ENST00000404927.2_Silent_p.F849F NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 849 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACACGCCCGTGAAACAGAAGC 0.572000 45 46 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16251606 16251606 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr16:16251606C>T ENST00000205557.7 - 27 3825 c.3796G>A c.(3796-3798)Gag>Aag p.E1266K NM_001171.5 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1266 ABC transporter 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TCCCGGAACTCGATCTGCCCG 0.627000 6 21 0 0 1 0 0 MRTO4 51154 broad.mit.edu 37 1 19582480 19582480 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr1:19582480C>T ENST00000330263.4 + 3 423 c.126C>T c.(124-126)atC>atT p.I42I MRTO4_ENST00000493700.1_3'UTR NM_016183.3 NP_057267.2 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog (S. cerevisiae) 42 ribosome biogenesis nuclear membrane|nucleolus breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ACCTTTTCATCTTCTCTGTGG 0.557000 26 4 0 0 1 0 0 ENGASE 64772 broad.mit.edu 37 17 77075620 77075620 + Nonsense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr17:77075620C>T ENST00000579016.1 + 4 466 c.466C>T c.(466-468)Cag>Tag p.Q156* ENGASE_ENST00000539857.2_Intron NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 156 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CTACCACTGGCAGTGCATCGA 0.582000 28 62 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122217656 122217656 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr2:122217656C>T ENST00000263710.4 - 12 1467 c.1078G>A c.(1078-1080)Gat>Aat p.D360N CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000541859.1_Missense_Mutation_p.D129N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D360N|CLASP1_ENST00000455322.2_Missense_Mutation_p.D360N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D360N|CLASP1_ENST00000545861.1_Missense_Mutation_p.D128N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D360N NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 360 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) AAGAAGTTATCATACTCAGCA 0.393000 17 30 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123258034 123258034 + Missense_Mutation SNP A A T rs121913476 TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr10:123258034A>T ENST00000358487.5 - 12 1919 c.1647T>A c.(1645-1647)aaT>aaA p.N549K FGFR2_ENST00000369059.1_Missense_Mutation_p.N435K|FGFR2_ENST00000356226.4_Missense_Mutation_p.N432K|FGFR2_ENST00000369060.4_Missense_Mutation_p.N433K|FGFR2_ENST00000351936.6_Missense_Mutation_p.N547K|FGFR2_ENST00000360144.3_Missense_Mutation_p.N461K|FGFR2_ENST00000457416.2_Missense_Mutation_p.N550K|FGFR2_ENST00000478859.1_Missense_Mutation_p.N321K|FGFR2_ENST00000369056.1_Missense_Mutation_p.N550K|FGFR2_ENST00000369061.4_Missense_Mutation_p.N437K|FGFR2_ENST00000346997.2_Missense_Mutation_p.N547K|FGFR2_ENST00000357555.5_Missense_Mutation_p.N460K NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 549 Protein kinase. N -> H (in CS). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.N549K(21)|p.N547K(4)|p.N460K(4)|p.N550K(4) breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CTCCAAGAAGATTTATGATAT 0.423000 N549K(AN3CA_ENDOMETRIUM)|N549K(MFE296_ENDOMETRIUM) 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 16 28 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36365646 36365646 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr19:36365646G>A ENST00000221891.4 + 10 1411 c.1219G>A c.(1219-1221)Gag>Aag p.E407K APLP1_ENST00000586861.1_Missense_Mutation_p.E401K|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.E368K NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 407 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCACAGGCGGAGCGTGTCCT 0.682000 14 13 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073037 15073037 + Missense_Mutation SNP C C T rs141949887 TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr19:15073037C>T ENST00000598504.1 - 8 2071 c.712G>A c.(712-714)Gaa>Aaa p.E238K SLC1A6_ENST00000600144.1_Missense_Mutation_p.E238K|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E238K|SLC1A6_ENST00000544886.2_Missense_Mutation_p.E238K|SLC1A6_ENST00000430939.2_Missense_Mutation_p.E174K NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 238 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.E238K(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GTGACATTTTCCAGGAAGCTG 0.602000 23 31 0 0 1 0 0 MIR144 406936 broad.mit.edu 37 17 27188448 27188448 + RNA SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr17:27188448C>T ENST00000385059.1 - 0 10 NR_029970.1|NR_039876.1 GGTTTCCTTGCCATTCCCAAG 0.512000 35 49 0 0 1 0 0 TFEB 7942 broad.mit.edu 37 6 41654867 41654867 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr6:41654867C>T ENST00000394283.1 - 7 1994 c.768G>A c.(766-768)aaG>aaA p.K256K TFEB_ENST00000230323.4_Silent_p.K256K|TFEB_ENST00000403298.4_Silent_p.K256K|TFEB_ENST00000373033.1_Silent_p.K256K|TFEB_ENST00000358871.2_Silent_p.K270K|TFEB_ENST00000420312.1_Silent_p.K171K P19484 TFEB_HUMAN transcription factor EB 256 Helix-loop-helix motif. embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TTCCCAACTCCTTGATGCGGT 0.532000 T ALPHA renal (childhood epithelioid) 13 9 0 0 1 0 0 TMEM186 25880 broad.mit.edu 37 16 8890052 8890052 + Silent SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr16:8890052C>G ENST00000333050.6 - 2 432 c.399G>C c.(397-399)ctG>ctC p.L133L PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron NM_015421.3 NP_056236.2 Q96B77 TM186_HUMAN transmembrane protein 186 133 integral to membrane|mitochondrion NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 CAGACTCATTCAGATACAGGA 0.542000 27 18 0 0 1 0 0 PGRMC1 10857 broad.mit.edu 37 X 118374412 118374412 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chrX:118374412G>A ENST00000217971.7 + 2 580 c.469G>A c.(469-471)Gag>Aag p.E157K PGRMC1_ENST00000535419.1_Intron NM_006667.3 NP_006658.1 O00264 PGRC1_HUMAN progesterone receptor membrane component 1 157 Cytochrome b5 heme-binding. cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus heme binding|protein binding|receptor activity|steroid binding lung(6) 6 GAGTGACTGGGAGTCTCAGTT 0.468000 34 9 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27087955 27087955 + Nonsense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr1:27087955C>T ENST00000324856.7 + 6 2613 c.2242C>T c.(2242-2244)Caa>Taa p.Q748* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q748*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q365* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 748 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AAGCATTGCCCAAGATCGAGG 0.552000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 15 7 0 0 1 0 0 USP2 9099 broad.mit.edu 37 11 119244116 119244116 + Silent SNP C C T rs140149067 TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr11:119244116C>T ENST00000260187.2 - 2 369 c.75G>A c.(73-75)tcG>tcA p.S25S RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 25 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) CACCATAGCCCGACTTGGCAT 0.597000 6 13 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195513169 195513169 + Missense_Mutation SNP A A G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr3:195513169A>G ENST00000463781.3 - 2 5741 c.5282T>C c.(5281-5283)cTt>cCt p.L1761P MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L1761P|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 553 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 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) GGTGACAGGAAGAGGGGTGGC 0.582000 4 2 0 0 1 0 0 CXCL12 6387 broad.mit.edu 37 10 44873246 44873246 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr10:44873246C>T ENST00000395794.2 - 4 417 c.374G>A c.(373-375)cGt>cAt p.R125H CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000395795.4_Intron NM_001178134.1 NP_001171605.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) AGGCCAAAGACGGATCTCACA 0.607000 8 7 0 0 1 0 0 PRKCE 5581 broad.mit.edu 37 2 46411922 46411922 + Missense_Mutation SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr2:46411922G>C ENST00000306156.3 + 15 2443 c.2116G>C c.(2116-2118)Gag>Cag p.E706Q NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon 706 AGC-kinase C-terminal. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) TACCCGGGAAGAGCCGGTACT 0.473000 15 45 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91447503 91447503 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr15:91447503C>T ENST00000360468.3 + 1 84 c.66C>T c.(64-66)ctC>ctT p.L22L MAN2A2_ENST00000559717.1_Silent_p.L22L NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 22 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TCTTCTCGCTCTACCTCATGC 0.552000 39 56 0 0 1 0 0 TAT 6898 broad.mit.edu 37 16 71604297 71604297 + Nonsense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr16:71604297G>A ENST00000355962.4 - 9 1049 c.916C>T c.(916-918)Cga>Tga p.R306* RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 306 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) AGCCCATCTCGGATCTAAAAG 0.443000 12 21 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89350022 89350022 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr16:89350022C>T ENST00000301030.4 - 9 3388 c.2928G>A c.(2926-2928)ctG>ctA p.L976L ANKRD11_ENST00000378330.2_Silent_p.L976L NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 976 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CACACTCCTTCAGCTCCTCCC 0.677000 41 55 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112437186 112437186 + Silent SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr6:112437186G>A ENST00000230538.7 - 36 5389 c.4992C>T c.(4990-4992)ttC>ttT p.F1664F LAMA4_ENST00000389463.4_Silent_p.F1657F|LAMA4_ENST00000424408.2_Silent_p.F1657F|LAMA4_ENST00000522006.1_Silent_p.F1657F NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1664 Laminin G-like 5. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ATCCAATATTGAAAGATTCAT 0.383000 28 30 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43585743 43585743 + RNA SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr17:43585743G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA CTTTAAGCCAGAGCGGCCGTC 0.443000 15 3 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135693045 135693045 + Nonsense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr5:135693045G>A ENST00000513104.1 - 2 313 c.31C>T c.(31-33)Cag>Tag p.Q11* TRPC7_ENST00000426057.2_Nonsense_Mutation_p.Q11*|TRPC7_ENST00000355180.3_Nonsense_Mutation_p.Q11* NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 11 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGCCGGCGCTGCATGTTTTTG 0.567000 3 37 0 0 1 0 0 C10orf129 142827 broad.mit.edu 37 10 96971707 96971707 + Silent SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr10:96971707G>C ENST00000341686.3 + 6 953 c.828G>C c.(826-828)ctG>ctC p.L276L C10orf129_ENST00000430183.1_Silent_p.L121L|C10orf129_ENST00000394005.3_Silent_p.L276L NM_207321.2 NP_997204.2 Q6P461 ACSM6_HUMAN chromosome 10 open reading frame 129 276 fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) CTTTATCCCTGAGCGCTGTCT 0.473000 21 25 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25304616 25304616 + RNA SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr15:25304616C>T ENST00000549804.2 + 0 98 TGCCGAAGGTCTTTAAGGTCG 0.498000 29 38 0 0 1 0 0 POMT1 10585 broad.mit.edu 37 9 134382862 134382862 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr9:134382862C>G ENST00000423007.1 + 5 830 c.388C>G c.(388-390)Cat>Gat p.H130D POMT1_ENST00000341012.7_Missense_Mutation_p.H76D|POMT1_ENST00000404875.2_Missense_Mutation_p.H13D|POMT1_ENST00000372228.3_Missense_Mutation_p.H130D|POMT1_ENST00000402686.3_Missense_Mutation_p.H130D|POMT1_ENST00000354713.4_Missense_Mutation_p.H100D|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000419118.2_Intron NM_001136113.1 NP_001129585.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 130 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) CCACTTTTCTCATTGTGCCGC 0.602000 34 46 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177225243 177225243 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr1:177225243G>A ENST00000361539.4 + 3 770 c.458G>A c.(457-459)gGa>gAa p.G153E NM_021165.2 NP_066988.1 bone morphogenetic protein/retinoic acid inducible neural-specific 2 153 GCCACCCTTGGAGGTAAGCAA 0.448000 OREG0014006 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 20 0 0 1 0 0 NBR1 4077 broad.mit.edu 37 17 41341805 41341805 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr17:41341805C>T ENST00000422280.1 + 8 1140 c.681C>T c.(679-681)gtC>gtT p.V227V NBR1_ENST00000341165.6_Silent_p.V227V|NBR1_ENST00000590996.1_Silent_p.V227V|NBR1_ENST00000589872.1_Silent_p.V227V|NBR1_ENST00000542611.1_Silent_p.V206V|NBR1_ENST00000389312.4_Silent_p.V227V NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 227 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) TTGTTGGTGTCCGCTACCAGT 0.438000 39 55 0 0 1 0 0 TLE6 79816 broad.mit.edu 37 19 2987370 2987370 + Splice_Site SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr19:2987370G>A ENST00000246112.4 + 8 759 c.558G>A c.(556-558)ctG>ctA p.L186L TLE6_ENST00000452088.1_Splice_Site_p.L63L|TLE6_ENST00000478073.2_3'UTR NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 63 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACCAGGCCTGGTGAGTAAAC 0.622000 26 26 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18391145 18391145 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr3:18391145C>T ENST00000338745.6 - 11 3543 c.1809G>A c.(1807-1809)caG>caA p.Q603Q SATB1_ENST00000454909.2_Silent_p.Q603Q|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Silent_p.Q635Q NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 603 Poly-Gln. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 gctgctgctgctgctgctgtt 0.612000 4 13 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130760903 130760903 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr8:130760903C>G ENST00000276708.4 - 14 2252 c.1371G>C c.(1369-1371)caG>caC p.Q457H NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 457 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 AACCCTCACTCTGGAGTGGGG 0.542000 17 28 0 0 1 0 0 LCMT2 9836 broad.mit.edu 37 15 43622424 43622424 + Silent SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr15:43622424G>C ENST00000305641.5 - 1 379 c.264C>G c.(262-264)ctC>ctG p.L88L LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 88 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) AGCCAGCGCCGAGAGACAAGA 0.667000 13 24 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94839546 94839546 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr5:94839546C>T ENST00000358746.2 - 31 3487 c.3189G>A c.(3187-3189)atG>atA p.M1063I NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1063 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 AAAGCCCCTTCATGAATAAAG 0.378000 37 49 0 0 1 0 0 LILRA3 11026 broad.mit.edu 37 19 54803106 54803106 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr19:54803106G>A ENST00000391745.1 - 8 938 c.622C>T c.(622-624)Cgc>Tgc p.R208C LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.R191C leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GACCACCTGCGACTTGGGCTC 0.582000 30 46 0 0 1 0 0 RNLS 55328 broad.mit.edu 37 10 90074274 90074274 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr10:90074274C>T ENST00000371947.3 - 6 2164 c.825G>A c.(823-825)ccG>ccA p.P275P RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Silent_p.P275P|RNLS_ENST00000437752.1_Silent_p.P192P NM_018363.3 NP_060833.1 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase 275 extracellular region oxidoreductase activity breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 GAGGCAAACCCGGCAAAATGT 0.433000 22 40 0 0 1 0 0 ACR 49 broad.mit.edu 37 22 51182532 51182532 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr22:51182532C>T ENST00000216139.5 + 4 649 c.609C>T c.(607-609)ctC>ctT p.L203L NM_001097.2 NP_001088.2 P10323 ACRO_HUMAN acrosin 203 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) GTGTGGATCTCATCGACCTGG 0.567000 36 61 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1057010 1057010 + Missense_Mutation SNP G G A rs143045355 TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr19:1057010G>A ENST00000263094.6 + 34 4922 c.4691G>A c.(4690-4692)cGa>cAa p.R1564Q ABCA7_ENST00000435683.2_Missense_Mutation_p.R1426Q|ABCA7_ENST00000433129.1_Missense_Mutation_p.R1564Q NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1564 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGAGTCACCCGAGCCAAGCAC 0.627000 16 15 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34922813 34922813 + Missense_Mutation SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr21:34922813G>C ENST00000356577.4 + 3 1751 c.1276G>C c.(1276-1278)Gag>Cag p.E426Q SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.E426Q|SON_ENST00000300278.4_Missense_Mutation_p.E426Q|SON_ENST00000290239.6_Missense_Mutation_p.E426Q NM_138927.1 NP_620305 P18583 SON_HUMAN SON DNA binding protein 426 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 CCCAGTGCCTGAGTTGCCAGG 0.652000 21 28 0 0 1 0 0 RING1 6015 broad.mit.edu 37 6 33179194 33179194 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr6:33179194C>T ENST00000374656.4 + 5 923 c.715C>T c.(715-717)Ctg>Ttg p.L239L RING1_ENST00000478431.1_3'UTR NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 239 Gly-rich.|Necessary for interaction with CBX2 (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 GGGAGGGACTCTGGGAGGGGG 0.721000 3 3 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 591414 591414 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr11:591414C>G ENST00000264555.5 + 5 579 c.451C>G c.(451-453)Cta>Gta p.L151V PHRF1_ENST00000416188.2_Missense_Mutation_p.L151V|PHRF1_ENST00000533464.1_Missense_Mutation_p.L147V|PHRF1_ENST00000413872.2_Missense_Mutation_p.L150V NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 151 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 TGATCGAACTCTATTTAAGTG 0.413000 8 12 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3656619 3656619 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr17:3656619C>G ENST00000263087.4 - 14 1731 c.1633G>C c.(1633-1635)Gaa>Caa p.E545Q NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 545 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) ACTCTGCCTTCTTCTCCATGA 0.537000 11 14 0 0 1 0 0 FUT10 84750 broad.mit.edu 37 8 33246682 33246682 + Silent SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr8:33246682G>A ENST00000327671.5 - 4 1642 c.1011C>T c.(1009-1011)atC>atT p.I337I FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Silent_p.I309I|FUT10_ENST00000335589.3_Silent_p.I275I|FUT10_ENST00000524021.1_Silent_p.I309I NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 337 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) CCAGTCGTCTGATGTAACTTG 0.458000 21 21 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36362811 36362811 + Silent SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr19:36362811G>A ENST00000221891.4 + 6 915 c.723G>A c.(721-723)gaG>gaA p.E241E APLP1_ENST00000586861.1_Silent_p.E235E|APLP1_ENST00000537454.2_Silent_p.E202E NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 241 Poly-Glu. apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGGGGGCTGAGGACGAGGAAG 0.632000 27 51 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81584977 81584977 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr15:81584977C>T ENST00000394660.2 + 12 1861 c.1501C>T c.(1501-1503)Cgc>Tgc p.R501C IL16_ENST00000302987.4_Missense_Mutation_p.R501C NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 501 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 ACCCCCGCATCGCAGGGCTCA 0.602000 16 16 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124875086 124875086 + Missense_Mutation SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr11:124875086G>C ENST00000529051.1 + 13 2648 c.2389G>C c.(2389-2391)Gaa>Caa p.E797Q CCDC15_ENST00000344762.5_Missense_Mutation_p.E797Q Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 797 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) AAGGCAAAAAGAACAAAAGAA 0.328000 9 5 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261806 1261806 + Splice_Site SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr16:1261806G>A ENST00000348261.5 + 24 4814 c.e24+1 CACNA1H_ENST00000565831.1_Splice_Site|CACNA1H_ENST00000358590.4_Splice_Site NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CGACCAGCAGGTGCGCACAGG 0.672000 18 28 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100192085 100192085 + Silent SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr7:100192085G>C ENST00000241071.6 + 6 1195 c.873G>C c.(871-873)ctG>ctC p.L291L FBXO24_ENST00000360609.2_Silent_p.L277L|FBXO24_ENST00000465843.1_Silent_p.L277L|FBXO24_ENST00000427939.2_Silent_p.L329L|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Silent_p.L279L|PCOLCE-AS1_ENST00000442166.2_RNA NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 291 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AGCTGGCCCTGAGGAAGGTGT 0.587000 15 25 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153247253 153247253 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr4:153247253C>T ENST00000281708.4 - 10 2778 c.1549G>A c.(1549-1551)Gga>Aga p.G517R FBXW7_ENST00000296555.5_Missense_Mutation_p.G399R|FBXW7_ENST00000603841.1_Missense_Mutation_p.G517R|FBXW7_ENST00000263981.5_Missense_Mutation_p.G437R|FBXW7_ENST00000603548.1_Missense_Mutation_p.G517R|FBXW7_ENST00000393956.3_Missense_Mutation_p.G341R NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 517 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCATATGCTCCACTAACAACC 0.443000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 29 37 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36680477 36680477 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr22:36680477C>T ENST00000216181.5 - 39 5794 c.5564G>A c.(5563-5565)cGg>cAg p.R1855Q MYH9_ENST00000475726.1_5'UTR NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1855 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GGCGTTCCTCCGCTCGTCATC 0.647000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 11 16 0 0 1 0 0 RUNX1 861 broad.mit.edu 37 21 36252892 36252892 + Missense_Mutation SNP C C A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr21:36252892C>A ENST00000344691.4 - 2 1966 c.389G>T c.(388-390)aGa>aTa p.R130I RUNX1_ENST00000399240.1_Missense_Mutation_p.R130I|RUNX1_ENST00000486278.2_Missense_Mutation_p.R133I|RUNX1_ENST00000325074.5_Missense_Mutation_p.R145I|RUNX1_ENST00000358356.5_Missense_Mutation_p.R130I|RUNX1_ENST00000300305.3_Missense_Mutation_p.R157I|RUNX1_ENST00000437180.1_Missense_Mutation_p.R157I NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 130 Runt. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 GTCATTAAATCTTGCAACCTG 0.458000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 14 25 4.3838e-07 4.52079e-07 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49432453 49432453 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr12:49432453G>A ENST00000301067.7 - 34 8685 c.8686C>T c.(8686-8688)Cct>Tct p.P2896S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCCTGACCAGGAAACGGAGTG 0.622000 6 7 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266182 41266182 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr3:41266182C>T ENST00000349496.5 + 3 459 c.179C>T c.(178-180)tCc>tTc p.S60F CTNNB1_ENST00000405570.1_Missense_Mutation_p.S60F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S60F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S60F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S53F NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 60 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.S60C(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.Q28_Q61del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.S60F(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GTGGATACCTCCCAAGTCCTG 0.458000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 23 19 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36362789 36362789 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr19:36362789G>A ENST00000221891.4 + 6 893 c.701G>A c.(700-702)gGg>gAg p.G234E APLP1_ENST00000586861.1_Missense_Mutation_p.G228E|APLP1_ENST00000537454.2_Missense_Mutation_p.G195E NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 234 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGGCCCCCGGGGAGCAGAGTA 0.637000 22 39 0 0 1 0 0 VAPA 9218 broad.mit.edu 37 18 9950543 9950543 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr18:9950543C>T ENST00000400000.2 + 5 824 c.569C>T c.(568-570)tCa>tTa p.S190L VAPA_ENST00000340541.4_Missense_Mutation_p.S235L|VAPA_ENST00000584796.1_3'UTR NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 190 cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 ATGAAGCTATCAGAAGAAAAT 0.373000 17 23 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92570927 92570927 + Missense_Mutation SNP C C A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr11:92570927C>A ENST00000298047.6 + 16 10340 c.10323C>A c.(10321-10323)gaC>gaA p.D3441E FAT3_ENST00000409404.2_Missense_Mutation_p.D3441E|FAT3_ENST00000525166.1_Missense_Mutation_p.D3291E Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3441 Cadherin 31. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATGTGAATGACAACAGCCCGG 0.468000 TCGA Ovarian(4;0.039) 16 13 4.7546e-09 4.94179e-09 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49425098 49425098 + Nonsense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr12:49425098G>A ENST00000301067.7 - 39 13389 c.13390C>T c.(13390-13392)Cag>Tag p.Q4464* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGTAGCTTCTGCAAGAGCAGA 0.617000 20 26 0 0 1 0 0 KCNC4 3749 broad.mit.edu 37 1 110766136 110766136 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr1:110766136C>G ENST00000369787.3 + 2 1256 c.1229C>G c.(1228-1230)tCc>tGc p.S410C KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.S410C|KCNC4_ENST00000413138.3_Missense_Mutation_p.S410C NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 410 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GCCAGGCCCTCCGACCCTCGG 0.567000 17 47 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113933459 113933459 + Missense_Mutation SNP G G C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr10:113933459G>C ENST00000348367.4 - 7 755 c.558C>G c.(556-558)atC>atG p.I186M GPAM_ENST00000369425.1_Missense_Mutation_p.I186M|GPAM_ENST00000423155.1_Missense_Mutation_p.I186M Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 186 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) TTTAATACCTGATCATTGCCG 0.403000 46 42 0 0 1 0 0 CRTC3 64784 broad.mit.edu 37 15 91136982 91136982 + Nonsense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr15:91136982C>T ENST00000420329.2 + 3 493 c.346C>T c.(346-348)Cga>Tga p.R116* CRTC3_ENST00000560098.1_Intron|CRTC3_ENST00000268184.6_Nonsense_Mutation_p.R116*|CRTC3_ENST00000558619.1_3'UTR NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 116 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CAAGCCAGGGCGACAAATATC 0.507000 T MAML2 salivary gland mucoepidermoid 14 16 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99771402 99771402 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr1:99771402C>T ENST00000370185.3 + 7 1625 c.1128C>T c.(1126-1128)ctC>ctT p.L376L LPPR4_ENST00000457765.1_Silent_p.L318L|LPPR4_ENST00000370184.1_Silent_p.L218L NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 376 phosphatidate phosphatase activity p.L376L(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AAGGCATCCTCAACCGAAACC 0.468000 26 53 0 0 1 0 0 ERI3 79033 broad.mit.edu 37 1 44778888 44778888 + Missense_Mutation SNP T T C TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr1:44778888T>C ENST00000372257.2 - 5 800 c.619A>G c.(619-621)Att>Gtt p.I207V ERI3_ENST00000372259.5_Missense_Mutation_p.I92V|ERI3_ENST00000537474.1_Missense_Mutation_p.I30V|ERI3_ENST00000495828.1_5'UTR NM_024066.1 NP_076971.1 O43414 ERI3_HUMAN ERI1 exoribonuclease family member 3 207 Exonuclease. intracellular exonuclease activity|metal ion binding|nucleic acid binding endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 ATGGCTTGAATAATCCCGGTG 0.512000 37 4 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124270320 124270320 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr12:124270320G>A ENST00000409039.3 + 9 1100 c.1075G>A c.(1075-1077)Gtg>Atg p.V359M NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 359 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGGCTTCCACGTGGTCCTGGA 0.537000 13 18 0 0 1 0 0 PRR11 55771 broad.mit.edu 37 17 57278991 57278991 + Silent SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr17:57278991G>A ENST00000262293.4 + 10 1394 c.1082G>A c.(1081-1083)tGa>tAa p.*361* CTD-2510F5.6_ENST00000577660.1_Intron NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 0 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GAACAAAACTGATGCCAACTC 0.433000 35 44 0 0 1 0 0 OR13C2 392376 broad.mit.edu 37 9 107367856 107367856 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr9:107367856G>A ENST00000542196.1 - 1 95 c.53C>T c.(52-54)tCt>tTt p.S18F NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TGGGTGACCAGAAAGTCCCTT 0.378000 22 37 0 0 1 0 0 FAM149A 25854 broad.mit.edu 37 4 187078818 187078818 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr4:187078818C>T ENST00000356371.5 + 8 1547 c.1547C>T c.(1546-1548)tCc>tTc p.S516F FAM149A_ENST00000503432.1_Missense_Mutation_p.S225F|FAM149A_ENST00000502970.1_Missense_Mutation_p.S225F|FAM149A_ENST00000514153.1_Missense_Mutation_p.S225F|FAM149A_ENST00000389354.5_Missense_Mutation_p.S225F|FAM149A_ENST00000227065.4_Missense_Mutation_p.S225F|FAM149A_ENST00000514829.1_3'UTR A5PLN7 F149A_HUMAN family with sequence similarity 149, member A 516 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) GGCCCCCCGTCCGGACACGCC 0.592000 21 33 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3657114 3657114 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr17:3657114C>G ENST00000263087.4 - 13 1588 c.1490G>C c.(1489-1491)aGa>aCa p.R497T NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 497 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GCTGGCCTCTCTGCCCTCCTT 0.627000 12 21 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61083813 61083813 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr11:61083813C>T ENST00000301764.7 - 12 1751 c.1354G>A c.(1354-1356)Gtg>Atg p.V452M DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 452 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 TGATCATCCACGAAACCCATC 0.502000 Nucleotide excision repair (NER) 62 80 0 0 1 0 0 MTCH1 23787 broad.mit.edu 37 6 36946338 36946338 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr6:36946338C>T ENST00000373627.5 - 3 580 c.456G>A c.(454-456)ctG>ctA p.L152L MTCH1_ENST00000373616.5_Silent_p.L152L|MTCH1_ENST00000538808.1_5'UTR NM_001271641.1 NP_001258570.1 Q9NZJ7 MTCH1_HUMAN mitochondrial carrier 1 152 activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 GCCGGGGACTCAGGCCTCGGA 0.572000 30 41 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32163712 32163712 + Missense_Mutation SNP C C A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr1:32163712C>A ENST00000373672.3 - 6 968 c.452G>T c.(451-453)gGc>gTc p.G151V COL16A1_ENST00000271069.6_Missense_Mutation_p.G151V|COL16A1_ENST00000373668.3_Missense_Mutation_p.G151V NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 151 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CACAAAGTCGCCATCCTGGCC 0.572000 27 23 3.73808e-20 3.97925e-20 1 1 0 N4BP3 23138 broad.mit.edu 37 5 177547210 177547210 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr5:177547210C>T ENST00000274605.5 + 3 721 c.362C>T c.(361-363)aCg>aTg p.T121M NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 121 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCAAGCCTACGGCGGGCAAC 0.627000 13 18 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22677064 22677064 + RNA SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr22:22677064C>T ENST00000426066.1 + 0 1637 IGLV1-51_ENST00000390290.2_RNA NR_027293.1 TCAGTGTCTGCGGCCCCAGGA 0.572000 4 80 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142094782 142094782 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr3:142094782G>A ENST00000264951.4 - 25 2953 c.2836C>T c.(2836-2838)Cat>Tat p.H946Y XRN1_ENST00000392981.2_Missense_Mutation_p.H946Y NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 946 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TGGTCTCCATGAGGGCTGAAT 0.393000 3 47 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200587690 200587690 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr1:200587690C>T ENST00000367350.4 - 2 600 c.162G>A c.(160-162)ttG>ttA p.L54L NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 54 Required for PRC1-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 CTGCAGATCTCAATAATGGAT 0.408000 29 42 0 0 1 0 0 LZTS2 84445 broad.mit.edu 37 10 102765448 102765448 + Silent SNP G G A rs144423222 TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr10:102765448G>A ENST00000370220.1 + 3 4365 c.1302G>A c.(1300-1302)ccG>ccA p.P434P LZTS2_ENST00000370223.3_Silent_p.P434P Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 434 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) AGCTCGGGCCGAGGCTTGAGG 0.677000 4 3 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67327922 67327922 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr1:67327922G>A ENST00000371026.3 - 7 1059 c.1004C>T c.(1003-1005)tCa>tTa p.S335L WDR78_ENST00000493572.1_5'UTR|WDR78_ENST00000431318.1_Missense_Mutation_p.S81L|WDR78_ENST00000371023.3_Missense_Mutation_p.S335L NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 335 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 TTGTTTTACTGATAAAGATAC 0.348000 13 25 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99917345 99917345 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr7:99917345C>G ENST00000332397.6 + 9 1688 c.1504C>G c.(1504-1506)Cag>Gag p.Q502E SPDYE3_ENST00000437326.2_Missense_Mutation_p.Q125E NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 502 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GAACTGCTCTCAGATAGCCTT 0.582000 34 42 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 596980 596980 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr11:596980C>T ENST00000264555.5 + 7 806 c.678C>T c.(676-678)ttC>ttT p.F226F PHRF1_ENST00000416188.2_Silent_p.F226F|PHRF1_ENST00000533464.1_Silent_p.F222F|PHRF1_ENST00000413872.2_Silent_p.F225F NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 226 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 ACGAGTGGTTCTGCCCGGAAT 0.622000 18 22 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97860326 97860326 + Silent SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr7:97860326G>A ENST00000447648.2 - 15 2528 c.2229C>T c.(2227-2229)agC>agT p.S743S TECPR1_ENST00000379795.3_Silent_p.S744S|TECPR1_ENST00000542604.1_Silent_p.S673S Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 743 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GGCTGGGCTCGCTCACGAAGA 0.697000 8 18 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4835936 4835936 + Silent SNP C C T rs34532073 byFrequency TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr12:4835936C>T ENST00000252318.2 + 2 787 c.450C>T c.(448-450)aaC>aaT p.N150N RP11-234B24.6_ENST00000544741.2_3'UTR NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 150 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 TTGGTTACAACGCGTACCTCA 0.572000 16 23 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 30 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 598428 598428 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr11:598428C>T ENST00000264555.5 + 9 1078 c.950C>T c.(949-951)gCg>gTg p.A317V PHRF1_ENST00000416188.2_Missense_Mutation_p.A317V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A313V|PHRF1_ENST00000413872.2_Missense_Mutation_p.A316V NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 317 Arg-rich. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GAGGCTGTGGCGACTGGCCTG 0.652000 7 20 0 0 1 0 0 NBR1 4077 broad.mit.edu 37 17 41342757 41342757 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr17:41342757C>G ENST00000422280.1 + 9 1286 c.827C>G c.(826-828)tCt>tGt p.S276C NBR1_ENST00000341165.6_Missense_Mutation_p.S276C|NBR1_ENST00000590996.1_Missense_Mutation_p.S276C|NBR1_ENST00000589872.1_Missense_Mutation_p.S276C|NBR1_ENST00000542611.1_Missense_Mutation_p.S255C|NBR1_ENST00000389312.4_Missense_Mutation_p.S276C NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 276 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) TCAAAGTACTCTACTCCTCGT 0.498000 9 12 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3979840 3979840 + Missense_Mutation SNP A A T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr19:3979840A>T ENST00000309311.6 - 10 1659 c.1571T>A c.(1570-1572)cTg>cAg p.L524Q NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 524 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCCGCTTCAGCCCCTCCAC 0.647000 12 14 0 0 1 0 0 DERA 51071 broad.mit.edu 37 12 16189270 16189270 + Silent SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr12:16189270C>G ENST00000428559.2 + 8 1067 c.855C>G c.(853-855)ctC>ctG p.L285L DERA_ENST00000532964.1_Silent_p.L242L|DERA_ENST00000526530.1_Silent_p.L197L|DERA_ENST00000532573.1_3'UTR NM_015954.2 NP_057038.2 Q9Y315 DEOC_HUMAN deoxyribose-phosphate aldolase (putative) 285 deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process cytoplasm deoxyribose-phosphate aldolase activity|protein binding endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 Hepatocellular(102;0.121) AGCCAGAACTCTTTCGAATAG 0.463000 17 17 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G rs121913416 TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr3:41266113C>G ENST00000349496.5 + 3 390 c.110C>G c.(109-111)tCt>tGt p.S37C CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 37 S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GGAATCCATTCTGGTGCCACT 0.498000 S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 9 17 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122217688 122217688 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr2:122217688C>G ENST00000263710.4 - 12 1435 c.1046G>C c.(1045-1047)aGa>aCa p.R349T CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000541859.1_Missense_Mutation_p.R118T|CLASP1_ENST00000409078.3_Missense_Mutation_p.R349T|CLASP1_ENST00000455322.2_Missense_Mutation_p.R349T|CLASP1_ENST00000541377.1_Missense_Mutation_p.R349T|CLASP1_ENST00000545861.1_Missense_Mutation_p.R117T|CLASP1_ENST00000397587.3_Missense_Mutation_p.R349T NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 349 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) AAGTAAAGATCTAATCTTTTT 0.348000 19 24 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123197011 123197011 + Nonsense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chrX:123197011C>T ENST00000371160.1 + 19 2067 c.1777C>T c.(1777-1779)Cag>Tag p.Q593* STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593* NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 593 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GCAGTTGCCTCAGTACTTTGA 0.279000 23 7 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39177479 39177479 + Missense_Mutation SNP T T A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr9:39177479T>A ENST00000297668.6 - 6 836 c.763A>T c.(763-765)Act>Tct p.T255S CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.T167S|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.T255S|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.T255S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.T255S NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 255 Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGAGCAATAGTGGAAGGCAGC 0.493000 7 48 0 0 1 0 0 EIF2S3 1968 broad.mit.edu 37 X 24086205 24086205 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chrX:24086205C>T ENST00000253039.4 + 9 1245 c.992C>T c.(991-993)gCt>gTt p.A331V NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 331 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 CTGCAATATGCTGCTCCAGGC 0.378000 3 41 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 598443 598443 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr11:598443C>G ENST00000264555.5 + 9 1093 c.965C>G c.(964-966)aCt>aGt p.T322S PHRF1_ENST00000416188.2_Missense_Mutation_p.T322S|PHRF1_ENST00000533464.1_Missense_Mutation_p.T318S|PHRF1_ENST00000413872.2_Missense_Mutation_p.T321S NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 322 Arg-rich. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GGCCTGAGCACTGCCGTGTAT 0.652000 6 18 0 0 1 0 0 SNTB1 6641 broad.mit.edu 37 8 121644761 121644761 + Missense_Mutation SNP C C G TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr8:121644761C>G ENST00000395601.3 - 4 1333 c.919G>C c.(919-921)Gag>Cag p.E307Q SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.E307Q NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 307 muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) TCTCTGACCTCAGCAATCACT 0.537000 20 15 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3920971 3920971 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr17:3920971C>T ENST00000381638.2 - 48 7819 c.7695G>A c.(7693-7695)caG>caA p.Q2565Q NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2565 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AGATCAGCTTCTGGGTCACAG 0.577000 20 26 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111570403 111570403 + Silent SNP G G T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr5:111570403G>T ENST00000261486.5 - 12 1291 c.1015C>A c.(1015-1017)Cgg>Agg p.R339R RP11-526F3.1_ENST00000504004.1_RNA NM_022140.3 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 339 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TGATCAGGCCGGGGAAGCTGA 0.458000 51 58 1.11015e-26 1.19138e-26 1 1 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89083951 89083951 + RNA DEL A A - rs111608027 TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr2:89083951delA ENST00000393525.3 + 0 576 CTTTTTTTTCAGTGTATTTCT 0.348 2 4 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176637515 176637516 + Frame_Shift_Ins INS - - A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr5:176637515_176637516insA ENST00000439151.2 + 5 2160_2161 c.2115_2116insA c.(2116-2118)aacfs p.N706fs NSD1_ENST00000354179.4_Frame_Shift_Ins_p.N437fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.N603fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.N437fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 706 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CTCTCATTAGTAACTCACATAC 0.406 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 26 31 --- --- --- --- RARS2 57038 broad.mit.edu 37 6 88299652 88299661 + Frame_Shift_Del DEL AGCGCGGCGA AGCGCGGCGA - TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr6:88299652_88299661delAGCGCGGCGA ENST00000369536.5 - 1 60_69 c.15_24delTCGCCGCGCT c.(13-24)tttcgccgcgctfs p.FRRA5fs NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 5 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding p.R6C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) GGCAAGCAATAGCGCGGCGAAAGCCGCACG 0.667 OREG0031911 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 7 31 --- --- --- --- GSDMD 79792 broad.mit.edu 37 8 144641505 144641506 + Frame_Shift_Ins INS - - AT TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr8:144641505_144641506insAT ENST00000533063.1 + 3 187_188 c.144_145insAT c.(145-147)atgfs p.M49fs GSDMD_ENST00000526406.1_5'UTR|GSDMD_ENST00000262580.4_5'UTR P57764 GSDMD_HUMAN gasdermin D 1 breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 TCCTCAGGAGCATGGGGTCGGC 0.624 6 10 --- --- --- --- KNTC1 9735 broad.mit.edu 37 12 123065152 123065152 + Frame_Shift_Del DEL A A - TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr12:123065152delA ENST00000333479.7 + 33 3094 c.2917delA c.(2917-2919)aatfs p.N973fs KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 973 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) AATTACAGACAATCTGCAGAA 0.284 2 4 --- --- --- --- RP11-459F6.3 0 broad.mit.edu 37 16 58173537 58173540 + RNA DEL TTCC TTCC - TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chr16:58173537_58173540delTTCC ENST00000569580.1 + 0 235 ccctccttctttccttccttcctc 0.505 2 4 --- --- --- --- DDX3X 1654 broad.mit.edu 37 X 41206631 41206632 + Frame_Shift_Ins INS - - T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chrX:41206631_41206632insT ENST00000399959.2 + 16 2691_2692 c.1836_1837insT c.(1837-1839)ttcfs p.F613fs DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Frame_Shift_Ins_p.F597fs|DDX3X_ENST00000441189.2_Intron NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 613 Gly/Ser-rich. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 gcagttccagcttcagcagcag 0.505 HNSCC(61;0.18) 39 13 --- --- --- --- NXF4 55999 broad.mit.edu 37 X 101826128 101826128 + RNA DEL T T - TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f21176a9-37ea-4522-a159-cdbf61cbc542 93f0abdc-4bcd-4c1d-bf80-5bb9de3c1487 g.chrX:101826128delT ENST00000360035.2 + 0 3281 NR_002216.1 endometrium(2)|lung(8) 10 TCACCTGTTCTTCTCCCACCC 0.473 2 4 --- --- --- ---