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 NCOA2 10499 broad.mit.edu 37 8 71069384 71069384 + Missense_Mutation SNP G G T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr8:71069384G>T ENST00000452400.2 - 11 1397 c.1216C>A c.(1216-1218)Cag>Aag p.Q406K NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 406 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CACAGGGCCTGATGGGCAGGG 0.498000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 6 46 0.00198382 0.00207399 1 1 0 DAPK1 1612 broad.mit.edu 37 9 90321375 90321375 + Missense_Mutation SNP G G A TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr9:90321375G>A ENST00000469640.2 + 27 3839 c.3464G>A c.(3463-3465)cGc>cAc p.R1155H DAPK1_ENST00000472284.1_Missense_Mutation_p.R1130H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1130H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R1064H|DAPK1_ENST00000408954.3_Missense_Mutation_p.R1130H P53355 DAPK1_HUMAN death-associated protein kinase 1 1130 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 GGTGGCGTGCGCATCGTGCCC 0.612000 Chronic Lymphocytic Leukemia, Familial Clustering of 3 31 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226059715 226059715 + Nonsense_Mutation SNP G G C TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr1:226059715G>C ENST00000366835.3 - 5 575 c.305C>G c.(304-306)tCa>tGa p.S102* NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 102 integral to membrane|lysosomal membrane nucleotide binding p.S102*(1) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) TTGTTGACCTGAGGAGGAAGT 0.438000 4 68 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285772 223285772 + Missense_Mutation SNP A A T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr1:223285772A>T ENST00000540964.1 - 4 1063 c.602T>A c.(601-603)tTt>tAt p.F201Y TLR5_ENST00000342210.6_Missense_Mutation_p.F201Y O60602 TLR5_HUMAN toll-like receptor 5 201 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) TGCGAGGCTAAAAAAGGAGAG 0.418000 19 92 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44864886 44864886 + Missense_Mutation SNP G G C TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr15:44864886G>C ENST00000261866.7 - 33 6354 c.6338C>G c.(6337-6339)tCt>tGt p.S2113C SPG11_ENST00000535302.2_Missense_Mutation_p.S2000C|SPG11_ENST00000427534.2_Missense_Mutation_p.S2113C NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 2113 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CTTACTGCAAGACAGTTCCCC 0.453000 12 79 0 0 1 0 0 GEMIN4 50628 broad.mit.edu 37 17 650236 650236 + Missense_Mutation SNP G G C TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr17:650236G>C ENST00000576778.1 - 1 2355 c.1014C>G c.(1012-1014)tgC>tgG p.C338W GEMIN4_ENST00000319004.5_Missense_Mutation_p.C349W|GEMIN4_ENST00000437269.1_3'UTR P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 349 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TCAGACTGTCGCACAGCCGGT 0.642000 25 78 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12726598 12726598 + Missense_Mutation SNP G G A rs150325490 by1000genomes TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr1:12726598G>A ENST00000376221.1 + 4 1076 c.1076G>A c.(1075-1077)cGc>cAc p.R359H NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 359 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TATAAGAAGCGCTTGGAGGAC 0.493000 69 155 0 0 1 0 0 KLRG2 346689 broad.mit.edu 37 7 139164979 139164979 + Missense_Mutation SNP C C T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr7:139164979C>T ENST00000340940.4 - 2 841 c.772G>A c.(772-774)Gtg>Atg p.V258M KLRG2_ENST00000393039.2_Intron NM_198508.2 NP_940910.1 A4D1S0 KLRG2_HUMAN killer cell lectin-like receptor subfamily G, member 2 258 integral to membrane sugar binding central_nervous_system(1)|large_intestine(2)|lung(3) 6 Melanoma(164;0.233) AGGGACTTCACGTACATGGGT 0.567000 7 49 0 0 1 0 0 OSBPL8 114882 broad.mit.edu 37 12 76786408 76786408 + Missense_Mutation SNP G G C TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr12:76786408G>C ENST00000261183.3 - 10 1361 c.882C>G c.(880-882)ttC>ttG p.F294L OSBPL8_ENST00000393250.4_Missense_Mutation_p.F252L|OSBPL8_ENST00000393249.2_Missense_Mutation_p.F252L NM_020841.4 NP_065892.1 Q9BZF1 OSBL8_HUMAN oxysterol binding protein-like 8 294 lipid transport lipid binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 GTAAGCCATAGAAAGTCACAT 0.413000 5 81 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940555 22940555 + Missense_Mutation SNP G G A TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr19:22940555G>A ENST00000397104.3 - 5 1882 c.1883C>T c.(1882-1884)aCt>aTt p.T628I ZNF99_ENST00000596209.1_Missense_Mutation_p.T719I zinc finger protein 99 p.T628N(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTTTCTAAGAGTTGAGGACTG 0.358000 17 60 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90025437 90025437 + Missense_Mutation SNP G G A TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr16:90025437G>A ENST00000563594.1 + 6 1385 c.388G>A c.(388-390)Gag>Aag p.E130K DEF8_ENST00000268676.7_Missense_Mutation_p.E191K|DEF8_ENST00000418391.2_Missense_Mutation_p.E130K|DEF8_ENST00000570182.1_Missense_Mutation_p.E120K|DEF8_ENST00000563795.1_Missense_Mutation_p.E130K|DEF8_ENST00000569453.1_Missense_Mutation_p.E130K|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000567874.1_Missense_Mutation_p.E70K NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 191 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CAATGAGGATGAGCCAAACAT 0.542000 11 153 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171621695 171621695 + Missense_Mutation SNP C C A rs2234925 by1000genomes TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr1:171621695C>A ENST00000037502.5 - 1 116 c.57G>T c.(55-57)caG>caT p.Q19H NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 19 Q -> H (in dbSNP:rs2234925). anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GAAGCAGCAGCTGGACAGCTG 0.587000 10 38 0.000442599 0.000477177 1 1 0 AGK 55750 broad.mit.edu 37 7 141315327 141315327 + Missense_Mutation SNP G G C TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr7:141315327G>C ENST00000355413.4 + 8 740 c.480G>C c.(478-480)ttG>ttC p.L160F AGK_ENST00000473247.1_Missense_Mutation_p.L132F|AGK_ENST00000535825.1_Missense_Mutation_p.L157F NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase 160 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) CCAGTAGTTTGAGTCATACCC 0.433000 8 196 0 0 1 0 0 CPLX1 10815 broad.mit.edu 37 4 780459 780459 + Missense_Mutation SNP C C T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr4:780459C>T ENST00000304062.6 - 4 466 c.235G>A c.(235-237)Gag>Aag p.E79K CPLX1_ENST00000505203.1_Missense_Mutation_p.E58K NM_006651.3 NP_006642.1 O14810 CPLX1_HUMAN complexin 1 79 glutamate secretion cytosol kidney(1)|lung(2) 3 Colorectal(103;0.187) GCCTCGGCCTCGCGCTCCTCC 0.756000 4 37 0 0 1 0 0 CHRAC1 54108 broad.mit.edu 37 8 141525224 141525224 + Splice_Site SNP G G A TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr8:141525224G>A ENST00000220913.5 + 3 476 c.e3-1 CHRAC1_ENST00000519533.1_Splice_Site NM_017444.5 NP_059140.1 Q9NRG0 CHRC1_HUMAN chromatin accessibility complex 1 chromatin remodeling chromatin accessibility complex|epsilon DNA polymerase complex DNA-directed DNA polymerase activity|sequence-specific DNA binding ovary(2) 2 all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.107) ATGTTTTTAAGATATATTACC 0.333000 6 88 0 0 1 0 0 FKBP9 11328 broad.mit.edu 37 7 33020103 33020103 + Missense_Mutation SNP T T G TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr7:33020103T>G ENST00000242209.4 + 5 1000 c.831T>G c.(829-831)agT>agG p.S277R FKBP9_ENST00000538443.1_Missense_Mutation_p.S139R|FKBP9_ENST00000490776.2_Missense_Mutation_p.S45R|FKBP9_ENST00000489038.1_3'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.S330R NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 277 protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) TAAGTCAAAGTGGGGACTTTC 0.428000 8 176 0 0 1 0 0 UBXN2A 165324 broad.mit.edu 37 2 24194237 24194237 + Missense_Mutation SNP C C G TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr2:24194237C>G ENST00000309033.4 + 3 377 c.133C>G c.(133-135)Cag>Gag p.Q45E UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Missense_Mutation_p.Q45E|UBXN2A_ENST00000404924.1_Missense_Mutation_p.Q45E NM_181713.3 NP_859064.2 P68543 UBX2A_HUMAN UBX domain protein 2A 45 endometrium(1)|large_intestine(3)|liver(1)|lung(6) 11 TGAGGAAGCTCAGAAGGTTAG 0.338000 9 110 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53563554 53563554 + Missense_Mutation SNP C C T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chrX:53563554C>T ENST00000342160.3 - 78 12669 c.12212G>A c.(12211-12213)cGa>cAa p.R4071Q HUWE1_ENST00000262854.6_Missense_Mutation_p.R4071Q Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4071 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AAACATCTCTCGAGAGATGAT 0.483000 6 53 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190921 42190921 + Missense_Mutation SNP C C T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr19:42190921C>T ENST00000006724.3 - 2 497 c.296G>A c.(295-297)cGa>cAa p.R99Q CEACAM7_ENST00000401731.1_Missense_Mutation_p.R99Q|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000602225.1_Missense_Mutation_p.R99Q|CEACAM7_ENST00000338196.4_Missense_Mutation_p.R99Q NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 99 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TATTGTCTCTCGACCGTTGTG 0.433000 11 282 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 48 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14106511 14106511 + Missense_Mutation SNP C C T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr1:14106511C>T ENST00000235372.7 + 8 3077 c.2221C>T c.(2221-2223)Ccc>Tcc p.P741S PRDM2_ENST00000311066.5_Missense_Mutation_p.P741S|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P540S|PRDM2_ENST00000413440.1_Missense_Mutation_p.P540S|PRDM2_ENST00000503842.1_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 741 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CAGCTCTCCTCCCAGTTCTCC 0.502000 6 132 0 0 1 0 0 POMGNT2 84892 broad.mit.edu 37 3 43121309 43121309 + Silent SNP G G A TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr3:43121309G>A ENST00000344697.2 - 2 1960 c.1615C>T c.(1615-1617)Ctg>Ttg p.L539L GTDC2_ENST00000441964.1_Silent_p.L539L NM_032806.4 NP_116195.2 TGCAGAGCCAGGATGTAAGGC 0.552000 5 103 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132181556 132181556 + Silent SNP C C T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr6:132181556C>T ENST00000360971.2 + 8 845 c.825C>T c.(823-825)atC>atT p.I275I NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 275 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) ATGGCATAATCGACAATAAAA 0.303000 4 13 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 4 38 0 0 1 0 0 SBNO2 22904 broad.mit.edu 37 19 1123582 1123582 + Silent SNP C C T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr19:1123582C>T ENST00000361757.3 - 7 816 c.579G>A c.(577-579)gcG>gcA p.A193A SBNO2_ENST00000438103.2_Silent_p.A136A|SBNO2_ENST00000587024.1_Silent_p.A193A NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 193 Poly-Glu. macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) CCAGctcctccgcctcctcct 0.662000 3 20 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112166752 112166752 + Silent SNP G G A TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr9:112166752G>A ENST00000412145.1 - 14 4089 c.1536C>T c.(1534-1536)agC>agT p.S512S PTPN3_ENST00000394827.3_Silent_p.S111S|PTPN3_ENST00000262539.3_Silent_p.S489S|PTPN3_ENST00000446349.1_Silent_p.S467S|PTPN3_ENST00000374541.2_Silent_p.S643S NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 643 PDZ. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GCACCGTCCCGCTTTCGAGGC 0.572000 5 58 0 0 1 0 0 ZXDC 79364 broad.mit.edu 37 3 126189852 126189852 + Missense_Mutation SNP G G A TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr3:126189852G>A ENST00000389709.3 - 4 1209 c.1156C>T c.(1156-1158)Cgg>Tgg p.R386W ZXDC_ENST00000336332.5_Missense_Mutation_p.R386W NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 386 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) GTAAACCTCCGGTCATCGTCA 0.458000 12 62 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 159992577 159992577 + Silent SNP G G A rs112214351 TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr5:159992577G>A ENST00000327245.5 - 26 5115 c.4269C>T c.(4267-4269)tcC>tcT p.S1423S NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1423 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTGCTCCCCGGATGAGAGTT 0.557000 25 124 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142480063 142480063 + RNA SNP C C A TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr7:142480063C>A ENST00000603901.1 + 0 195 NR_001296.3 GTCACTGCTACAAGCCGTAAG 0.567000 8 45 3.03874e-20 3.49455e-20 1 1 0 INADL 10207 broad.mit.edu 37 1 62274164 62274164 + Nonsense_Mutation SNP C C T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr1:62274164C>T ENST00000371158.2 + 14 1759 c.1645C>T c.(1645-1647)Cag>Tag p.Q549* INADL_ENST00000316485.6_Nonsense_Mutation_p.Q549* NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 549 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TTTGGACACACAGATTGCAGA 0.284000 3 28 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 4 27 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30732969 30732969 + Missense_Mutation SNP C C T rs104893810 TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr3:30732969C>T ENST00000295754.5 + 7 1964 c.1582C>T c.(1582-1584)Cgt>Tgt p.R528C TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 528 Protein kinase. R -> C (in LDS1B).|R -> H (in LDS1B). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding p.R528C(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CCCAGAGGCCCGTCTCACAGC 0.597000 30 46 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14504698 14504698 + Missense_Mutation SNP G G C TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr5:14504698G>C ENST00000344204.4 + 55 8632 c.8608G>C c.(8608-8610)Gaa>Caa p.E2870Q TRIO_ENST00000344135.5_Missense_Mutation_p.E369Q|TRIO_ENST00000537187.1_Missense_Mutation_p.E2694Q NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2870 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CCTGGTCTTAGAAATGTGCGT 0.562000 11 219 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 68 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 47 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076681 57076681 + Silent SNP C C T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr11:57076681C>T ENST00000532437.1 - 5 3815 c.3504G>A c.(3502-3504)agG>agA p.R1168R TNKS1BP1_ENST00000358252.3_Silent_p.R1168R Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1168 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTTCCAAGTTCCTGAGACCCA 0.607000 5 101 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 4 26 0 0 1 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148687053 148687053 + Nonsense_Mutation SNP G G A TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr5:148687053G>A ENST00000296721.4 + 7 722 c.624G>A c.(622-624)tgG>tgA p.W208* AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Nonsense_Mutation_p.W208* NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 208 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACACCAGTGGCCCTCAGAGG 0.592000 8 74 0 0 1 0 0 NOD1 10392 broad.mit.edu 37 7 30486608 30486608 + Missense_Mutation SNP C C T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr7:30486608C>T ENST00000222823.4 - 8 2869 c.2344G>A c.(2344-2346)Gaa>Aaa p.E782K NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 782 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CCTTTGCATTCATCCAGGATT 0.453000 7 82 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14108764 14108764 + Missense_Mutation SNP C C G TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr1:14108764C>G ENST00000235372.7 + 8 5330 c.4474C>G c.(4474-4476)Cat>Gat p.H1492D PRDM2_ENST00000311066.5_Missense_Mutation_p.H1492D|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.H1291D|PRDM2_ENST00000413440.1_Missense_Mutation_p.H1291D|PRDM2_ENST00000503842.1_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1492 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AAAAGTTTCTCATTCATCTAA 0.443000 11 339 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4304762 4304762 + Missense_Mutation SNP G G A TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr7:4304762G>A ENST00000404826.2 + 45 6527 c.6388G>A c.(6388-6390)Gac>Aac p.D2130N SDK1_ENST00000389531.3_Missense_Mutation_p.D2110N|SDK1_ENST00000466611.1_3'UTR NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 2130 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCAGGCCACGGACTCTGACTA 0.687000 3 22 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31023282 31023282 + Missense_Mutation SNP G G C TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr20:31023282G>C ENST00000375687.4 + 13 3191 c.2767G>C c.(2767-2769)Gag>Cag p.E923Q ASXL1_ENST00000306058.5_Missense_Mutation_p.E918Q NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 923 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 ACCATCTGTTGAGCCCCAGGT 0.512000 """F, N, Mis""" """MDS, CMML""" 4 68 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113955408 113955408 + Missense_Mutation SNP A A C TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr2:113955408A>C ENST00000245796.6 + 14 2737 c.2542A>C c.(2542-2544)Acc>Ccc p.T848P PSD4_ENST00000441564.2_Missense_Mutation_p.T819P NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 848 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTCGCTGGCCACCCCCGCCAC 0.657000 7 19 0 0 1 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100559710 100559710 + RNA SNP T T G TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr12:100559710T>G ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 CAGAGGCTGGTGCCCGCCTTC 0.602000 6 26 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158324402 158324402 + Missense_Mutation SNP G G T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr1:158324402G>T ENST00000368160.3 + 2 294 c.294G>T c.(292-294)caG>caT p.Q98H CD1E_ENST00000368161.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.Q98H|CD1E_ENST00000368155.3_Missense_Mutation_p.Q98H|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.Q98H|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.Q98H|CD1E_ENST00000434258.1_Missense_Mutation_p.Q96H NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 98 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CACTGTTCCAGTTATACTTCC 0.458000 4 63 1 1 1 1 0 BTNL8 79908 broad.mit.edu 37 5 180335804 180335804 + Missense_Mutation SNP G G T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr5:180335804G>T ENST00000231229.4 + 2 502 c.268G>T c.(268-270)Gat>Tat p.D90Y BTNL8_ENST00000340184.4_Missense_Mutation_p.D90Y|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.D90Y NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 90 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTGGTGAAGGATTCTATTGC 0.527000 9 237 0.000274275 0.000300397 1 1 0 PIK3R1 5295 broad.mit.edu 37 5 67591125 67591129 + Frame_Shift_Del DEL TGAGA TGAGA - TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr5:67591125_67591129delTGAGA ENST00000521381.1 + 13 2334_2338 c.1718_1722delTGAGA c.(1717-1722)cfs p.LR573fs PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.LR573fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.LR573fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.LR210fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.LR273fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.LR573fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.LR303fs NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 573 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.L573P(2)|p.L303P(2)|p.R574T(2)|p.R574_T576del(2)|p.L273P(2)|p.L570_D578del(1)|p.R574fs*27(1)|p.0?(1)|p.?(1)|p.R574I(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CTTATCCAGCTGAGAAAGACGAGAG 0.380 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 16 120 --- --- --- --- TRIM7 81786 broad.mit.edu 37 5 180631987 180631987 + Frame_Shift_Del DEL C C - TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr5:180631987delC ENST00000274773.7 - 1 185 c.124delG c.(124-126)tcfs p.V42fs TRIM7_ENST00000334421.5_Frame_Shift_Del_p.V42fs NM_203293.1 NP_976038.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 42 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) CCGCACTCGACGGACACCGGC 0.746 2 4 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 8 252 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547135 132547136 + In_Frame_Ins INS - - CAG rs144787206 byFrequency TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr12:132547135_132547136insCAG ENST00000333577.4 + 48 8440_8441 c.8331_8332insCAG c.(8329-8334)caaaca>caCAGaaca p.2777_2777Q>HR EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2777 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacagcagca 0.589 14 61 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 012bfacf-0f67-4284-aab9-9898b621dc48 27a98375-2c5a-4e54-91b4-a7cd6c74f9e1 g.chr17:56056605_56056607delTGC ENST00000584396.1 - 5 1105_1107 c.1017_1019delGCA c.(1015-1020)caa>ca p.QQ343del VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 352 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ttgttgttgttgctgctgctgct 0.463 14 311 --- --- --- ---