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 MUC17 140453 broad.mit.edu 37 7 100676663 100676663 + Missense_Mutation SNP T T A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:100676663T>A ENST00000306151.4 + 3 2030 c.1966T>A c.(1966-1968)Tcc>Acc p.S656T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 656 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCCTGTTGACTCCAACACTCC 0.478000 10 1458 0 0 1 0 0 HAVCR2 84868 broad.mit.edu 37 5 156535950 156535950 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr5:156535950C>T ENST00000307851.4 - 1 775 c.45G>A c.(43-45)ctG>ctA p.L15L CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.L15L NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 15 integral to membrane p.L18delL(1)|p.L15L(1) cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TAAGTAGTAGCAGCAGCAGCA 0.443000 5 197 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 10 86 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116804 53116804 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:53116804G>A ENST00000597597.1 - 2 3267 c.1014C>T c.(1012-1014)atC>atT p.I338I ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000301096.3_Silent_p.I338I P51522 ZNF83_HUMAN zinc finger protein 83 338 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I338I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTCCAGTGTGGATTCTCCAGT 0.413000 6 542 0 0 1 0 0 JOSD1 9929 broad.mit.edu 37 22 39084975 39084975 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr22:39084975C>A ENST00000216039.5 - 3 1153 c.474G>T c.(472-474)aaG>aaT p.K158N NM_014876.5 NP_055691.1 Q15040 JOS1_HUMAN Josephin domain containing 1 158 Josephin. peptidase activity large_intestine(1)|lung(1)|ovary(2)|pancreas(1) 5 Melanoma(58;0.04) ACTCGGGCATCTTGAGTTTGG 0.547000 17 417 2.5808e-16 2.78873e-16 1 1 0 CABP1 9478 broad.mit.edu 37 12 121098645 121098645 + Splice_Site SNP T T C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr12:121098645T>C ENST00000453000.1 + 4 1259 c.e4+2 CABP1_ENST00000288616.3_Splice_Site|CABP1_ENST00000316803.3_Splice_Site|CABP1_ENST00000351200.2_Splice_Site Q9NZU7 CABP1_HUMAN calcium binding protein 1 cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TTCCGAGAGGTAACGGACAGA 0.498000 23 297 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15483674 15483674 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:15483674C>T ENST00000269701.2 - 5 909 c.849G>A c.(847-849)cgG>cgA p.R283R NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 283 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 GATCCCGATCCCGCATCCGAG 0.592000 27 91 0 0 1 0 0 PLK4 0 broad.mit.edu 37 4 128816239 128816239 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr4:128816239G>C ENST00000270861.5 + 14 2968 c.2694G>C c.(2692-2694)tgG>tgC p.W898C PLK4_ENST00000515069.1_Missense_Mutation_p.W820C|PLK4_ENST00000513090.1_Missense_Mutation_p.W866C|PLK4_ENST00000507249.1_Missense_Mutation_p.W837C|PLK4_ENST00000514379.1_Missense_Mutation_p.W857C NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 898 POLO box. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 ATGTTGGTTGGGCTACACAGG 0.323000 77 182 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 7 257 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4247761 4247761 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:4247761G>A ENST00000404826.2 + 37 5384 c.5245G>A c.(5245-5247)Gaa>Aaa p.E1749K SDK1_ENST00000389531.3_Missense_Mutation_p.E1729K NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1749 Fibronectin type-III 11. 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) CAGCCAGAACGAAACGGAGAA 0.552000 16 271 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350550 100350550 + RNA SNP T T C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:100350550T>C ENST00000542585.1 + 0 2970 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.L941P(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACAGAAAAACTCACCATCCCC 0.517000 7 759 0 0 1 0 0 TMEM52 339456 broad.mit.edu 37 1 1849760 1849760 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:1849760G>A ENST00000378602.3 - 1 476 c.236C>T c.(235-237)gCa>gTa p.A79V TMEM52_ENST00000310991.3_Missense_Mutation_p.A94V Q8NDY8 TMM52_HUMAN transmembrane protein 52 94 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGGCTGCCGTGCTGGTGGCAG 0.637000 68 52 0 0 1 0 0 PEG10 23089 broad.mit.edu 37 7 94293789 94293789 + Missense_Mutation SNP T T A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:94293789T>A ENST00000482108.1 + 2 1400 c.921T>A c.(919-921)aaT>aaA p.N307K PEG10_ENST00000488574.1_Missense_Mutation_p.N307K NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 307 apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) ACGCTGACAATTGTCCTGCCA 0.582000 11 40 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133184899 133184899 + Missense_Mutation SNP T T A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr8:133184899T>A ENST00000388996.4 - 7 1506 c.1086A>T c.(1084-1086)caA>caT p.Q362H KCNQ3_ENST00000521134.1_Missense_Mutation_p.Q242H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.Q362H NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 362 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TCTGACGGTGTTGCTCCTGCA 0.587000 154 229 0 0 1 0 0 C2CD5 9847 broad.mit.edu 37 12 22637787 22637787 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr12:22637787C>A ENST00000333957.4 - 13 1649 c.1394G>T c.(1393-1395)tGt>tTt p.C465F C2CD5_ENST00000396028.2_Missense_Mutation_p.C456F|C2CD5_ENST00000446597.1_Missense_Mutation_p.C465F|C2CD5_ENST00000544930.1_Missense_Mutation_p.C280F|C2CD5_ENST00000542676.1_Missense_Mutation_p.C465F|C2CD5_ENST00000536386.1_Missense_Mutation_p.C467F|C2CD5_ENST00000545552.1_Missense_Mutation_p.C478F NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 TGGTATATGACAAAATCCACA 0.279000 15 163 3.41278e-10 3.63605e-10 1 1 0 POTEG 404785 broad.mit.edu 37 14 19566012 19566012 + Splice_Site SNP A A C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr14:19566012A>C ENST00000409832.3 + 6 1108 c.1055_splice c.e6-1 p.V352_splice CTD-2311B13.5_ENST00000548748.1_lincRNA NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 352 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TTATACATAGAATTTGCCAGT 0.269000 4 313 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855284 53855284 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:53855284G>A ENST00000458035.1 + 4 1473 c.1356G>A c.(1354-1356)tcG>tcA p.S452S ZNF845_ENST00000595091.1_Silent_p.S452S NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S452S(2) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTTTCAAATCGAACCTTGAAA 0.398000 6 308 0 0 1 0 0 RP11-178C3.2 0 broad.mit.edu 37 17 58066651 58066651 + RNA SNP C C T rs144367363 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:58066651C>T ENST00000586209.1 + 0 158 ACTGGTAAAGCTGTTTAAGAG 0.333000 4 64 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73488859 73488859 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:73488859C>T ENST00000314256.7 + 15 2295 c.1901C>T c.(1900-1902)gCc>gTc p.A634V KIAA0195_ENST00000375248.5_Missense_Mutation_p.A644V|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A285V NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 634 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TGCGAGCTTGCCCGCCTCATT 0.647000 5 427 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505842 195505842 + Silent SNP T T G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr3:195505842T>G ENST00000463781.3 - 2 13068 c.12609A>C c.(12607-12609)acA>acC p.T4203T MUC4_ENST00000475231.1_Silent_p.T4203T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 966 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) TGGCGTGACCTGTGGATGCTG 0.597000 3 13 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10500085 10500085 + Missense_Mutation SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:10500085C>G ENST00000396554.3 + 3 602 c.261C>G c.(259-261)ttC>ttG p.F87L AMPD3_ENST00000444303.2_Intron NM_000480.2 NP_000471.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 78 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) AGAAAAGTTTCAAGATGATTC 0.537000 33 1077 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66638342 66638342 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:66638342G>C ENST00000393960.1 - 8 936 c.655C>G c.(655-657)Cgg>Ggg p.R219G PC_ENST00000355677.3_Missense_Mutation_p.R219G|PC_ENST00000524491.1_Missense_Mutation_p.R179G|PC_ENST00000393958.2_Missense_Mutation_p.R219G|PC_ENST00000393955.2_Missense_Mutation_p.R219G NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 219 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GAGTAGGCCCGGGTGTAATTC 0.622000 5 605 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38590667 38590667 + Silent SNP G G T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:38590667G>T ENST00000222345.6 + 5 2240 c.1731G>T c.(1729-1731)ggG>ggT p.G577G NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 577 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ATGGGACCGGGCGGGGCCTGC 0.632000 86 176 2.40943e-26 2.69289e-26 1 1 0 TOP3B 8940 broad.mit.edu 37 22 22316871 22316871 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr22:22316871C>T ENST00000398793.2 - 13 1889 c.1455G>A c.(1453-1455)gaG>gaA p.E485E TOP3B_ENST00000357179.5_Silent_p.E485E|TOP3B_ENST00000413067.2_Silent_p.E214E NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 485 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) TCGTCTGCTTCTCCAGCATCT 0.662000 13 211 0 0 1 0 0 MCOLN2 255231 broad.mit.edu 37 1 85417986 85417986 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:85417986G>A ENST00000370608.3 - 6 754 c.687C>T c.(685-687)ggC>ggT p.G229G MCOLN2_ENST00000284027.5_Silent_p.G201G|MCOLN2_ENST00000531325.1_5'UTR NM_153259.2 NP_694991.2 Q8IZK6 MCLN2_HUMAN mucolipin 2 229 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) GTAGGTCAATGCCTTTAAGAT 0.328000 13 167 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1653014 1653014 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:1653014G>A ENST00000252804.4 - 17 2588 c.2538C>T c.(2536-2538)caC>caT p.H846H NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 846 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CGTTGCTGCAGTGCTGTCCGT 0.647000 32 55 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 6 488 0 0 1 0 0 WIPI1 55062 broad.mit.edu 37 17 66430734 66430734 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:66430734C>A ENST00000262139.5 - 7 654 c.655G>T c.(655-657)Ggg>Tgg p.G219W WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.G137W NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 219 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 AGCTTTTGCCCATCAGGGACA 0.498000 51 173 9.72345e-25 1.07619e-24 1 1 0 F5 2153 broad.mit.edu 37 1 169510226 169510226 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:169510226G>A ENST00000367796.3 - 13 4318 c.4117C>T c.(4117-4119)Cta>Tta p.L1373L F5_ENST00000367797.3_Silent_p.L1368L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1368 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTGAGGTCTAGAGAAAGGGTT 0.522000 8 1499 0 0 1 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28214913 28214913 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr21:28214913G>A ENST00000284984.2 - 2 1276 c.822C>T c.(820-822)caC>caT p.H274H NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 274 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) GACCACTGCCGTGGAATTCTG 0.483000 9 322 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111970268 111970268 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:111970268G>A ENST00000374566.3 - 18 2331 c.1814C>T c.(1813-1815)gCg>gTg p.A605V NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 605 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CACATGATCCGCAACAGGGGA 0.423000 5 356 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510463 169510463 + Missense_Mutation SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:169510463A>G ENST00000367796.3 - 13 4081 c.3880T>C c.(3880-3882)Ttc>Ctc p.F1294L F5_ENST00000367797.3_Missense_Mutation_p.F1289L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1289 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTCTGGCTGAAGTCTAGAGAA 0.517000 10 1880 0 0 1 0 0 NBPF8 728841 broad.mit.edu 37 1 144220816 144220816 + Missense_Mutation SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:144220816A>G ENST00000369373.5 + 2 83 c.83A>G c.(82-84)gAg>gGg p.E28G neuroblastoma breakpoint family, member 8 GATGAGAAAGAGCCTGAAGTC 0.483000 11 1770 0 0 1 0 0 LSM14B 149986 broad.mit.edu 37 20 60701454 60701454 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr20:60701454G>A ENST00000253001.4 + 3 592 c.386G>A c.(385-387)aGc>aAc p.S129N LSM14B_ENST00000279068.6_Missense_Mutation_p.S129N|LSM14B_ENST00000370915.1_Missense_Mutation_p.S129N Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 129 multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CTGGCGGCCAGCTCCCTGCTC 0.627000 43 77 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176659486 176659486 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:176659486G>A ENST00000367662.3 + 5 3515 c.2351G>A c.(2350-2352)cGg>cAg p.R784Q PAPPA2_ENST00000367661.3_Missense_Mutation_p.R784Q NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 784 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GAGCTGTGCCGGGAACCAGAG 0.577000 250 377 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212431 26212431 + Silent SNP G G T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chrX:26212431G>T ENST00000379034.1 + 2 617 c.468G>T c.(466-468)tcG>tcT p.S156S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 156 Ser-rich. p.S156S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CCACTGGCTCGCCTGATGCAG 0.507000 5 307 0.000602214 0.000615717 1 1 0 SPATA31D5P 0 broad.mit.edu 37 9 84528377 84528377 + RNA SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:84528377C>G ENST00000527857.1 + 0 26 NR_026851.1 CCATGCTATTCAAACCATGGA 0.458000 12 30 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 6 667 0 0 1 0 0 TMEM53 79639 broad.mit.edu 37 1 45120689 45120689 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:45120689G>C ENST00000372237.3 - 3 539 c.376C>G c.(376-378)Ctc>Gtc p.L126V TMEM53_ENST00000372235.3_Missense_Mutation_p.L96V|TMEM53_ENST00000372242.3_Missense_Mutation_p.L126V|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR NM_024587.2 NP_078863.2 Q6P2H8 TMM53_HUMAN transmembrane protein 53 126 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10 Acute lymphoblastic leukemia(166;0.155) GTCTGCAGGAGCTCCAGCACG 0.612000 OREG0013446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 155 0 0 1 0 0 RNF125 54941 broad.mit.edu 37 18 29622203 29622203 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr18:29622203G>C ENST00000217740.3 + 3 872 c.380G>C c.(379-381)gGa>gCa p.G127A RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA NM_017831.3 NP_060301.2 Q96EQ8 RN125_HUMAN ring finger protein 125, E3 ubiquitin protein ligase 127 negative regulation of type I interferon production intracellular ligase activity|zinc ion binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 GATAAGTATGGACCACTACAA 0.328000 4 88 0 0 1 0 0 EIF3F 8665 broad.mit.edu 37 11 8014505 8014505 + Missense_Mutation SNP A A C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:8014505A>C ENST00000533626.1 + 6 1213 c.587A>C c.(586-588)aAc>aCc p.N196T EIF3F_ENST00000449102.2_Missense_Mutation_p.N47T|EIF3F_ENST00000309828.4_Missense_Mutation_p.N196T|EIF3F_ENST00000537635.1_Missense_Mutation_p.N211T O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 196 MPN. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GAGGCCCCCAACCCCATCCAC 0.557000 9 364 0 0 1 0 0 SPP2 6694 broad.mit.edu 37 2 234959698 234959698 + Missense_Mutation SNP A A T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:234959698A>T ENST00000168148.3 + 2 257 c.169A>T c.(169-171)Agt>Tgt p.S57C SPP2_ENST00000492481.1_3'UTR|SPP2_ENST00000373368.1_Missense_Mutation_p.S57C NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 57 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) CCAGTCACTGAGTCCGTATCT 0.468000 93 127 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 120053699 120053699 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:120053699C>A ENST00000313400.4 - 2 636 c.536G>T c.(535-537)aGc>aTc p.S179I ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S179I|ASTN2_ENST00000373996.3_Missense_Mutation_p.S179I O75129 ASTN2_HUMAN astrotactin 2 179 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CTGCCCGGAGCTGCTCATGGA 0.592000 52 342 5.73376e-24 6.31544e-24 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 47 88 0 0 1 0 0 CXorf27 25763 broad.mit.edu 37 X 37850202 37850202 + Missense_Mutation SNP A A T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chrX:37850202A>T ENST00000341016.3 + 1 133 c.110A>T c.(109-111)cAa>cTa p.Q37L TM4SF2_ENST00000465127.1_Intron NM_012274.1 NP_036406.1 O75409 HYPM_HUMAN chromosome X open reading frame 27 37 DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2) 8 CGCGTTGTGCAAGATGAACGA 0.478000 59 120 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21806573 21806573 + Missense_Mutation SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:21806573A>G ENST00000318220.6 + 14 2118 c.1070A>G c.(1069-1071)gAg>gGg p.E357G NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 413 NBPF 2. cytoplasm p.E413G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GATGAGAAAGAGCCTGAAGTC 0.463000 4 137 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128689 152128689 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:152128689C>T ENST00000316073.3 - 3 950 c.886G>A c.(886-888)Ggt>Agt p.G296S NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 296 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCCGTCTGACCGTAGTGGGAA 0.498000 12 2582 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205193 23205193 + RNA SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr15:23205193A>G ENST00000400153.2 - 0 661 NR_003521.1 GGTGTCCTTGAATAACCTAGA 0.398000 4 51 0 0 1 0 0 RNF38 152006 broad.mit.edu 37 9 36351123 36351123 + Missense_Mutation SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:36351123C>G ENST00000357058.3 - 9 1609 c.1003G>C c.(1003-1005)Gaa>Caa p.E335Q RNF38_ENST00000353739.4_Missense_Mutation_p.E368Q|RNF38_ENST00000377885.2_Missense_Mutation_p.E335Q|RNF38_ENST00000259605.6_Missense_Mutation_p.E418Q|RNF38_ENST00000350199.4_Missense_Mutation_p.E335Q|RNF38_ENST00000377877.4_Missense_Mutation_p.E342Q NM_194328.2 NP_919309.1 Q9H0F5 RNF38_HUMAN ring finger protein 38 418 Pro-rich. zinc ion binding breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1) 11 STAD - Stomach adenocarcinoma(86;0.228) TCGTAATTTTCTACTTCTCCA 0.378000 19 45 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123984759 123984759 + Missense_Mutation SNP A A T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr5:123984759A>T ENST00000306315.5 - 4 1753 c.1318T>A c.(1318-1320)Tct>Act p.S440T ZNF608_ENST00000504926.1_Missense_Mutation_p.S13T NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 440 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCAGCAGCAGACCTCGCTCTC 0.597000 11 299 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41605916 41605916 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr4:41605916G>A ENST00000313860.7 + 5 423 c.369G>A c.(367-369)ctG>ctA p.L123L LIMCH1_ENST00000508501.1_Silent_p.L123L|LIMCH1_ENST00000512820.1_Silent_p.L123L|LIMCH1_ENST00000512632.1_Silent_p.L123L|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000512946.1_Silent_p.L123L|LIMCH1_ENST00000509638.1_5'UTR NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 123 CH. actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 GTAGGAAGCTGAAAAATGTAA 0.338000 58 115 0 0 1 0 0 CCNL1 57018 broad.mit.edu 37 3 156866115 156866115 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr3:156866115C>T ENST00000295926.3 - 11 1614 c.1496G>A c.(1495-1497)cGt>cAt p.R499H CCNL1_ENST00000461804.1_Intron NM_020307.2 NP_064703.1 Q9UK58 CCNL1_HUMAN cyclin L1 499 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) AGATCGTTCACGCCTGTCCCT 0.512000 120 263 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76129526 76129526 + Missense_Mutation SNP G G A rs149001132 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr5:76129526G>A ENST00000296677.4 + 2 1300 c.1094G>A c.(1093-1095)cGc>cAc p.R365H NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 365 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity p.R365H(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) CGAAGTGTCCGCACTGTAAAG 0.448000 7 543 0 0 1 0 0 ABHD17A 81926 broad.mit.edu 37 19 1881263 1881263 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:1881263G>A ENST00000292577.7 - 2 736 c.303C>T c.(301-303)tgC>tgT p.C101C ABHD17A_ENST00000590661.1_Silent_p.C101C|ABHD17A_ENST00000250974.9_Silent_p.C101C NM_001130111.1 NP_001123583.1 abhydrolase domain containing 17A p.C101C(3) GAACATACATGCAGGAGACGC 0.662000 5 192 0 0 1 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43815480 43815480 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr21:43815480C>T ENST00000291532.3 - 2 1002 c.47G>A c.(46-48)cGa>cAa p.R16Q TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R100Q|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R16Q NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 16 cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 AAAAAGCGATCGGAATGAGAA 0.517000 46 91 0 0 1 0 0 SUSD2 56241 broad.mit.edu 37 22 24579030 24579030 + Missense_Mutation SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr22:24579030C>G ENST00000358321.3 + 2 343 c.82C>G c.(82-84)Caa>Gaa p.Q28E NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 28 SMB. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 TCCAGATGCCCAAGAGAGCTG 0.642000 16 343 0 0 1 0 0 MAP4K5 11183 broad.mit.edu 37 14 50911762 50911762 + Missense_Mutation SNP T T C rs55815015 byFrequency TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr14:50911762T>C ENST00000013125.4 - 18 1654 c.1336A>G c.(1336-1338)Att>Gtt p.I446V NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 446 I -> V (in dbSNP:rs55815015). activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) GCCATACCAATAGAAGAAGTC 0.413000 11 125 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907303 153907303 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:153907303C>T ENST00000361217.4 - 18 3124 c.2706G>A c.(2704-2706)caG>caA p.Q902Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 902 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgctgctgttgctgct 0.642000 7 366 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64525391 64525391 + RNA SNP A A T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:64525391A>T ENST00000426828.1 + 0 221 NR_033416.1 TTCAACACCCAACAGCTTCCT 0.383000 7 524 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60511862 60511862 + Missense_Mutation SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr20:60511862A>G ENST00000360469.5 + 16 2700 c.2612A>G c.(2611-2613)gAg>gGg p.E871G CDH4_ENST00000543233.1_Missense_Mutation_p.E797G NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 871 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) TTCGACTACGAGGGGAGCGGC 0.627000 24 157 0 0 1 0 0 RBM24 221662 broad.mit.edu 37 6 17292038 17292038 + Silent SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr6:17292038C>G ENST00000379052.5 + 4 635 c.399C>G c.(397-399)gtC>gtG p.V133V RBM24_ENST00000425446.2_Silent_p.V75V|RBM24_ENST00000318204.5_Silent_p.V88V|RBM24_ENST00000508508.1_3'UTR NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 133 cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) CGGGAGTGGTCATTCCACACG 0.542000 11 522 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55033569 55033569 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr20:55033569C>T ENST00000371336.3 + 6 2328 c.2127C>T c.(2125-2127)gtC>gtT p.V709V CASS4_ENST00000360314.3_Silent_p.V709V|CASS4_ENST00000434344.1_Silent_p.V272V NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 709 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GCAAGCTGGTCATCATGGTGG 0.617000 78 151 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167830232 167830232 + Silent SNP G G T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:167830232G>T ENST00000367848.1 - 15 1907 c.1410C>A c.(1408-1410)gcC>gcA p.A470A ADCY10_ENST00000367851.4_Silent_p.A562A|ADCY10_ENST00000545172.1_Silent_p.A409A Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 562 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CTAGGACATTGGCCATGAACA 0.373000 9 423 6.40141e-05 6.60417e-05 1 1 0 WHAMMP3 0 broad.mit.edu 37 15 23205184 23205184 + RNA SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr15:23205184G>A ENST00000400153.2 - 0 670 NR_003521.1 TGGCTTTTCGGTGTCCTTGAA 0.403000 4 51 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 6 180 0 0 1 0 0 TIMM10B 26515 broad.mit.edu 37 11 6503419 6503419 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:6503419G>A ENST00000254616.6 + 3 350 c.280G>A c.(280-282)Gaa>Aaa p.E94K TIMM10B_ENST00000530751.1_Missense_Mutation_p.E62K|TIMM10B_ENST00000472836.1_Missense_Mutation_p.E94K NM_012192.3 NP_036324.1 translocase of inner mitochondrial membrane 10 homolog B (yeast) CGTTGCTGCTGAACAGCCTGG 0.637000 35 124 0 0 1 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67221162 67221162 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr16:67221162C>T ENST00000314586.6 - 5 1246 c.1006G>A c.(1006-1008)Gcc>Acc p.A336T EXOC3L1_ENST00000562887.1_Intron NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 336 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle p.A336T(2) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 TGCAGCAAGGCGAAGGCATCC 0.632000 55 101 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175086303 175086303 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:175086303C>A ENST00000239462.4 + 10 2461 c.2348C>A c.(2347-2349)gCc>gAc p.A783D NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 783 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAGAAGGGGGCCCAGGAGAGC 0.572000 6 521 1.3612e-06 1.4302e-06 1 1 0 F5 2153 broad.mit.edu 37 1 169510489 169510489 + Missense_Mutation SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:169510489A>G ENST00000367796.3 - 13 4055 c.3854T>C c.(3853-3855)cTc>cCc p.L1285P F5_ENST00000367797.3_Missense_Mutation_p.L1280P P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1280 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. L -> I (in dbSNP:rs1046712). cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGTATGGCTGAGGTCTGGAGA 0.498000 8 1781 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 4 164 0 0 1 0 0 OXGR1 27199 broad.mit.edu 37 13 97639242 97639242 + Missense_Mutation SNP G G T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr13:97639242G>T ENST00000298440.1 - 4 1015 c.772C>A c.(772-774)Cat>Aat p.H258N OXGR1_ENST00000543457.1_Missense_Mutation_p.H258N NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 258 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) CTCAAGATATGGAAGGGTAAA 0.438000 6 266 1 1 1 1 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642985 1642985 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:1642985G>A ENST00000399682.1 - 1 383 c.339C>T c.(337-339)tcC>tcT p.S113S NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 113 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AACCCCCACAGGAGCCACAGC 0.667000 6 414 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201436126 201436126 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:201436126G>A ENST00000357799.4 + 7 1155 c.1057G>A c.(1057-1059)Gac>Aac p.D353N NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 353 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 GGATAATGATGACTTTCAATT 0.373000 4 126 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36170825 36170825 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:36170825C>T ENST00000335119.2 + 1 1437 c.1326C>T c.(1324-1326)gtC>gtT p.V442V NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 442 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) TCTCCCGGGTCGGGGTAGTGG 0.552000 80 193 0 0 1 0 0 OGG1 4968 broad.mit.edu 37 3 9798512 9798512 + Silent SNP T T A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr3:9798512T>A ENST00000339511.5 + 6 1266 c.960T>A c.(958-960)ccT>ccA p.P320P OGG1_ENST00000449570.2_Intron|OGG1_ENST00000344629.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302003.7_Intron NM_016819.3 NP_058212.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase 0 S -> T (in dbSNP:rs1801128). depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) TGAGTGTACCTAGGTGTCCTC 0.572000 Base excision repair (BER), DNA glycosylases 4 196 0 0 1 0 0 RP11-445N18.7 0 broad.mit.edu 37 10 45652269 45652269 + RNA SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr10:45652269G>A ENST00000427229.2 + 0 1783 CACCCTTGGCGGAAAGAACAC 0.473000 4 105 0 0 1 0 0 WIPI1 55062 broad.mit.edu 37 17 66430712 66430712 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:66430712C>A ENST00000262139.5 - 7 676 c.677G>T c.(676-678)cGg>cTg p.R226L WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.R144L NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 226 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 CATCCCTCTCCGGAACTCATA 0.512000 57 181 7.41606e-26 8.2481e-26 1 1 0 KLHL32 114792 broad.mit.edu 37 6 97423967 97423967 + Missense_Mutation SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr6:97423967A>G ENST00000369261.4 + 3 481 c.118A>G c.(118-120)Atc>Gtc p.I40V KLHL32_ENST00000536676.1_Missense_Mutation_p.I40V|KLHL32_ENST00000539200.1_Missense_Mutation_p.I40V|KLHL32_ENST00000544166.1_5'UTR NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 40 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) GAGTGATGGCATCCTCTGCGA 0.507000 4 118 0 0 1 0 0 TRMT2A 27037 broad.mit.edu 37 22 20103778 20103778 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr22:20103778C>T ENST00000252136.7 - 2 770 c.382G>A c.(382-384)Gtt>Att p.V128I RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000439169.2_Missense_Mutation_p.V128I|TRMT2A_ENST00000403707.3_Missense_Mutation_p.V128I|TRMT2A_ENST00000404751.3_Missense_Mutation_p.V128I NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 128 RRM. RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 CCATGCAAAACGCGCAGGGCC 0.647000 62 151 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 5 285 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65163782 65163782 + Missense_Mutation SNP T T A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:65163782T>A ENST00000358691.5 - 14 1727 c.1561A>T c.(1561-1563)Act>Tct p.T521S HELZ_ENST00000580168.1_Missense_Mutation_p.T521S NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CCAGCCAAAGTATCTTCAGAA 0.433000 11 378 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242179464 242179464 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:242179464C>T ENST00000391975.1 - 18 2470 c.2243G>A c.(2242-2244)gGc>gAc p.G748D HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 748 KH 9. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GCGAATTTTGCCGCCCCCCTT 0.542000 6 558 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78686787 78686787 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:78686787G>A ENST00000545128.1 + 7 1405 c.867G>A c.(865-867)cgG>cgA p.R289R PCSK5_ENST00000376752.4_Silent_p.R289R|PCSK5_ENST00000376767.3_Silent_p.R289R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 289 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CCCTCACCCGGCAAGCCTTTG 0.507000 7 646 0 0 1 0 0 ADRB2 154 broad.mit.edu 37 5 148206693 148206693 + Missense_Mutation SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr5:148206693C>G ENST00000305988.4 + 1 538 c.299C>G c.(298-300)aCt>aGt p.T100S NM_000024.5 NP_000015.1 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 100 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) AAAATGTGGACTTTTGGCAAC 0.527000 9 231 0 0 1 0 0 MEOX1 4222 broad.mit.edu 37 17 41738449 41738449 + Missense_Mutation SNP T T C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:41738449T>C ENST00000318579.4 - 1 873 c.454A>G c.(454-456)Aga>Gga p.R152G MEOX1_ENST00000329168.3_Missense_Mutation_p.R152G|MEOX1_ENST00000393661.2_Missense_Mutation_p.R37G|MEOX1_ENST00000549132.1_Silent_p.G122G NM_001040002.1|NM_004527.3 NP_001035091.1|NP_004518.1 P50221 MEOX1_HUMAN mesenchyme homeobox 1 152 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) CTCTCCTTTCTCCGCCTGGAT 0.572000 19 786 0 0 1 0 0 ACSL4 2182 broad.mit.edu 37 X 108921610 108921610 + Missense_Mutation SNP G G T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chrX:108921610G>T ENST00000340800.2 - 8 1317 c.813C>A c.(811-813)gaC>gaA p.D271E ACSL4_ENST00000469796.2_Missense_Mutation_p.D271E|ACSL4_ENST00000348502.6_Missense_Mutation_p.D230E NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 271 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) CAATGGCCATGTCTGAAGGCG 0.378000 59 359 2.02627e-32 2.27581e-32 1 1 0 CCDC19 25790 broad.mit.edu 37 1 159850480 159850480 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:159850480C>T ENST00000426543.2 - 8 1108 c.653G>A c.(652-654)cGa>cAa p.R218Q CCDC19_ENST00000368099.4_Missense_Mutation_p.R303Q|CCDC19_ENST00000476696.1_5'UTR Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 303 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TTGCTGCCTTCGTTCCATGTC 0.478000 5 305 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17794037 17794037 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:17794037C>A ENST00000379472.3 + 2 1426 c.1396C>A c.(1396-1398)Ctg>Atg p.L466M KCNC1_ENST00000265969.6_Missense_Mutation_p.L466M NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 466 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GCCACCGCAGCTGGGATCTCC 0.448000 87 172 1.01459e-35 1.14519e-35 1 1 0 OR56A3 390083 broad.mit.edu 37 11 5969013 5969013 + Missense_Mutation SNP T T A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:5969013T>A ENST00000329564.6 + 1 444 c.437T>A c.(436-438)gTc>gAc p.V146D NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACTTTGTAGTCAAGGCTGCC 0.448000 147 309 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040819 147040819 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr5:147040819G>C ENST00000265272.5 - 3 786 c.319C>G c.(319-321)Cgt>Ggt p.R107G JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R65G|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R107G NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 107 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCCATCACGTACCTTCACC 0.557000 439 430 0 0 1 0 0 RAD52 5893 broad.mit.edu 37 12 1023204 1023204 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr12:1023204G>C ENST00000358495.3 - 11 1189 c.1051C>G c.(1051-1053)Cca>Gca p.P351A RAD52_ENST00000539046.1_Missense_Mutation_p.P274A|RAD52_ENST00000430095.2_Missense_Mutation_p.P351A|RAD52_ENST00000535376.1_5'UTR NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 351 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) GTCTGGGCTGGGTCTGCTCTA 0.527000 Homologous recombination 9 346 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26677522 26677522 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:26677522C>T ENST00000288710.2 + 15 2001 c.1927C>T c.(1927-1929)Cgg>Tgg p.R643W NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) CAGGGACTCGCGGGCCCCGCT 0.592000 5 279 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022882 11022882 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:11022882G>A ENST00000327064.4 + 5 771 c.581G>A c.(580-582)gGc>gAc p.G194D CARM1_ENST00000344150.4_Missense_Mutation_p.G194D NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 194 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 GTTGGCTGTGGCTCTGGGATC 0.592000 29 1221 0 0 1 0 0 UCP3 7352 broad.mit.edu 37 11 73718034 73718034 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:73718034C>T ENST00000314032.4 - 2 606 c.54G>A c.(52-54)ctG>ctA p.L18L UCP3_ENST00000348534.4_Silent_p.L18L|UCP3_ENST00000426995.2_Silent_p.L18L NM_003356.3 NP_003347.1 P55916 UCP3_HUMAN uncoupling protein 3 (mitochondrial, proton carrier) 18 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) TGCCTGCCCCCAGGAACTTCA 0.597000 41 83 0 0 1 0 0 RND3 390 broad.mit.edu 37 2 151326505 151326505 + Missense_Mutation SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:151326505A>G ENST00000375734.2 - 5 980 c.731T>C c.(730-732)aTg>aCg p.M244T RND3_ENST00000263895.4_Missense_Mutation_p.M244T|RND3_ENST00000409557.1_Missense_Mutation_p.M115T NM_001254738.1 NP_001241667.1 P61587 RND3_HUMAN Rho family GTPase 3 244 actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction Golgi membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.106) AAAGATTCACATCACAGTGCA 0.423000 91 82 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94578575 94578575 + Silent SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:94578575G>C ENST00000370225.3 - 2 200 c.114C>G c.(112-114)gtC>gtG p.V38V ABCA4_ENST00000535735.1_Silent_p.V38V NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 38 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) ACCAGATCAAGACCAGAAATA 0.443000 60 287 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39866704 39866704 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr6:39866704G>A ENST00000538976.1 + 22 2852 c.2670G>A c.(2668-2670)gcG>gcA p.A890A RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Silent_p.A890A|DAAM2_ENST00000398904.2_Silent_p.A890A NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 890 FH2. 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) GCCTGAGAGCGGTGGAGGTGG 0.577000 11 40 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 7 156 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73834247 73834247 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr6:73834247C>A ENST00000370392.1 + 9 1343 c.1259C>A c.(1258-1260)tCt>tAt p.S420Y KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000370398.1_Intron|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000403813.2_Intron Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 0 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTTGTGATTTCTCTCTTGCTA 0.358000 42 88 1.56793e-16 1.70232e-16 1 1 0 CCDC58 131076 broad.mit.edu 37 3 122081856 122081856 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr3:122081856C>T ENST00000291458.5 - 4 349 c.343G>A c.(343-345)Gaa>Aaa p.E115K CCDC58_ENST00000497726.1_Missense_Mutation_p.E24K|CCDC58_ENST00000479899.1_Missense_Mutation_p.E101K|CCDC58_ENST00000466854.1_5'UTR NM_001017928.2 NP_001017928.1 Q4VC31 CCD58_HUMAN coiled-coil domain containing 58 115 large_intestine(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.148) ACATTCAGTTCTGACTGCATC 0.313000 59 129 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16892284 16892284 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:16892284G>C ENST00000430580.2 - 27 3795 c.2908C>G c.(2908-2910)Ctg>Gtg p.L970V NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 970 NBPF 6. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ACTGCCTCCAGCAGCTCCCTG 0.493000 11 1933 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 7 167 0 0 1 0 0 AMBP 259 broad.mit.edu 37 9 116837247 116837247 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:116837247G>C ENST00000265132.3 - 3 592 c.330C>G c.(328-330)caC>caG p.H110Q NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 110 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) TACTGGATTTGTGATAGAGAA 0.438000 86 209 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564265 176564265 + Silent SNP T T C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:176564265T>C ENST00000367662.3 + 3 2689 c.1525T>C c.(1525-1527)Ttg>Ctg p.L509L PAPPA2_ENST00000367661.3_Silent_p.L509L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 509 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CAATGTGGAATTGATCTCCCA 0.537000 66 236 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 4 100 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 4 148 0 0 1 0 0 ZNF600 162966 broad.mit.edu 37 19 53270312 53270312 + Missense_Mutation SNP G G T rs150744538 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:53270312G>T ENST00000338230.3 - 3 964 c.697C>A c.(697-699)Ctt>Att p.L233I NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TGGCATGTAAGGGATGATACC 0.408000 36 523 1.07637e-12 1.15217e-12 1 1 0 NBPF3 84224 broad.mit.edu 37 1 21806606 21806606 + Missense_Mutation SNP T T G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:21806606T>G ENST00000318220.6 + 14 2151 c.1103T>G c.(1102-1104)tTt>tGt p.F368C NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 424 NBPF 2. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTGGATAGATTTTATTCAACT 0.468000 7 107 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 6 135 3.59834e-05 3.72918e-05 1 1 0 NOS3 4846 broad.mit.edu 37 7 150699033 150699033 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:150699033C>T ENST00000297494.3 + 13 1984 c.1627C>T c.(1627-1629)Cgg>Tgg p.R543W NOS3_ENST00000461406.1_Missense_Mutation_p.R337W|NOS3_ENST00000484524.1_Missense_Mutation_p.R543W|NOS3_ENST00000467517.1_Missense_Mutation_p.R543W NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 543 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GAGACTCTTCCGGAAGGCTTT 0.632000 164 212 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28575489 28575489 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr8:28575489C>A ENST00000220562.4 + 3 2815 c.1913C>A c.(1912-1914)cCt>cAt p.P638H EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.P254H NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 638 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) GGCTTTCGGCCTATTGGTGGT 0.557000 72 213 5.44642e-36 6.17803e-36 1 1 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 13 97 0 0 1 0 0 THOC5 8563 broad.mit.edu 37 22 29915009 29915009 + Missense_Mutation SNP T T C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr22:29915009T>C ENST00000490103.1 - 15 1597 c.1475A>G c.(1474-1476)cAg>cGg p.Q492R CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397872.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397873.2_Missense_Mutation_p.Q492R NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 492 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGATGCAAACTGTTTGTGGAG 0.507000 59 577 0 0 1 0 0 RNF38 152006 broad.mit.edu 37 9 36351150 36351150 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:36351150C>T ENST00000357058.3 - 9 1582 c.976G>A c.(976-978)Gaa>Aaa p.E326K RNF38_ENST00000353739.4_Missense_Mutation_p.E359K|RNF38_ENST00000377885.2_Missense_Mutation_p.E326K|RNF38_ENST00000259605.6_Missense_Mutation_p.E409K|RNF38_ENST00000350199.4_Missense_Mutation_p.E326K|RNF38_ENST00000377877.4_Missense_Mutation_p.E333K NM_194328.2 NP_919309.1 Q9H0F5 RNF38_HUMAN ring finger protein 38 409 Pro-rich. zinc ion binding breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1) 11 STAD - Stomach adenocarcinoma(86;0.228) ACATCTAATTCAAAGCTGAAA 0.358000 25 53 0 0 1 0 0 CYP8B1 1582 broad.mit.edu 37 3 42917299 42917299 + Missense_Mutation SNP A A C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr3:42917299A>C ENST00000316161.4 - 1 334 c.10T>G c.(10-12)Tgg>Ggg p.W4G KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.W4G|ACKR2_ENST00000471537.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 4 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) ACTGGACCCCAGAGAACCATG 0.592000 58 81 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628264 29628264 + Missense_Mutation SNP T T A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr20:29628264T>A ENST00000278882.3 + 6 646 c.266T>A c.(265-267)aTt>aAt p.I89N FRG1B_ENST00000439954.2_Missense_Mutation_p.I94N|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89N endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGCTGCTTTATTAGATGCAAT 0.363000 7 427 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 757669 757669 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:757669C>T ENST00000215582.6 + 2 826 c.723C>T c.(721-723)aaC>aaT p.N241N NM_173481.2 NP_775752.1 mitotic spindle positioning ACCTGGCCAACGGGCACGTGG 0.672000 25 68 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47230177 47230177 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:47230177C>T ENST00000300404.2 + 4 608 c.549C>T c.(547-549)cgC>cgT p.R183R B4GALNT2_ENST00000393354.2_Silent_p.R123R|B4GALNT2_ENST00000504681.1_Silent_p.R97R NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 183 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) GGCTGCCCCGCCCACTGCCCC 0.617000 13 26 0 0 1 0 0 STXBP5 0 broad.mit.edu 37 6 147685192 147685192 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr6:147685192C>T ENST00000367481.3 + 23 2971 c.2863C>T c.(2863-2865)Cgg>Tgg p.R955W STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W|STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 991 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding p.R955W(1)|p.R991W(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TACCAATATGCGGATAGCCAG 0.363000 6 542 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57955884 57955884 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:57955884C>T ENST00000334181.4 + 3 1618 c.1368C>T c.(1366-1368)caC>caT p.H456H AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H369H(1)|p.H456H(1) breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TAGTTCAGCACCAGAAAATCC 0.423000 5 269 0 0 1 0 0 BIK 638 broad.mit.edu 37 22 43524566 43524566 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr22:43524566G>C ENST00000216115.2 + 4 388 c.325G>C c.(325-327)Gac>Cac p.D109H NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 109 apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) AAGTTTCATGGACGGTTTCAC 0.517000 141 136 0 0 1 0 0 CPEB1 64506 broad.mit.edu 37 15 83215935 83215935 + Missense_Mutation SNP G G T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr15:83215935G>T ENST00000563800.1 - 10 3258 c.1533C>A c.(1531-1533)agC>agA p.S511R RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.A219E|CPEB1_ENST00000568757.1_Missense_Mutation_p.S409R|CPEB1_ENST00000568128.1_Missense_Mutation_p.S484R|CPEB1_ENST00000562019.1_Missense_Mutation_p.S489R|CPEB1_ENST00000423133.2_Missense_Mutation_p.S409R|CPEB1_ENST00000398591.2_Missense_Mutation_p.S414R|CPEB1_ENST00000398592.2_Missense_Mutation_p.S258R|CPEB1_ENST00000564522.1_Missense_Mutation_p.S409R|CPEB1_ENST00000261723.6_Missense_Mutation_p.S487R|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000450751.2_Missense_Mutation_p.S409R Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 489 Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) CAAAAGCAGCGCTGACTGCTT 0.463000 207 169 3.20401e-112 3.68947e-112 1 1 0 KNSTRN 90417 broad.mit.edu 37 15 40682085 40682085 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr15:40682085C>T ENST00000416151.2 + 6 755 c.640C>T c.(640-642)Cgg>Tgg p.R214W KNSTRN_ENST00000249776.8_Missense_Mutation_p.R214W|KNSTRN_ENST00000448395.2_Missense_Mutation_p.R214W NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein GGAGAAGTTTCGGGACAACTG 0.522000 97 200 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr4:186544317G>A ENST00000431808.1 - 14 2817 c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 752 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.P752S(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CTGTTGTCCGGCAAGCTCCCC 0.522000 6 809 0 0 1 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41620150 41620150 + Missense_Mutation SNP T T A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr22:41620150T>A ENST00000216237.5 + 9 1227 c.1069T>A c.(1069-1071)Tac>Aac p.Y357N NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 357 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACGGCTCCTCTACGAGGATGG 0.612000 119 169 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417597 150417597 + Missense_Mutation SNP A A C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:150417597A>C ENST00000307194.5 + 3 645 c.505A>C c.(505-507)Aca>Cca p.T169P NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGTGAGCAACACAGAGAACCG 0.647000 86 325 0 0 1 0 0 RP11-566K19.6 0 broad.mit.edu 37 15 23108883 23108883 + RNA SNP T T C rs3178813 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr15:23108883T>C ENST00000557922.1 - 0 246 NR_040057.1 TTCGACACTATCATCTGCAGA 0.378000 4 142 0 0 1 0 0 DMRTA2 63950 broad.mit.edu 37 1 50884890 50884890 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:50884890G>A ENST00000404795.3 - 3 1468 c.1076C>T c.(1075-1077)gCg>gTg p.A359V DMRTA2_ENST00000418121.1_Missense_Mutation_p.A359V NM_032110.2 NP_115486.1 Q96SC8 DMTA2_HUMAN DMRT-like family A2 359 Ala-rich.|Gly-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(4)|pancreas(1) 6 CAGGCCGGCCGCCAGGCCCCC 0.766000 36 20 0 0 1 0 0 BDKRB2 0 broad.mit.edu 37 14 96703485 96703485 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr14:96703485G>A ENST00000306005.3 + 2 237 c.41G>A c.(40-42)cGt>cAt p.R14H RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.R14H|BDKRB2_ENST00000539359.1_5'UTR|BDKRB2_ENST00000542454.2_5'UTR|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R14H NM_000623.3 NP_000614.1 P30411 BKRB2_HUMAN bradykinin receptor B2 14 R -> C (in dbSNP:rs1046248). arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CTGTCTGTTCGTGAGGACTCC 0.527000 7 210 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50136189 50136189 + RNA SNP G G T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chrX:50136189G>T ENST00000376025.2 - 0 1615 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) GAACACTTGAGATGGGTTAAG 0.453000 7 84 0.00307968 0.00313467 1 1 0 F5 2153 broad.mit.edu 37 1 169510577 169510577 + Silent SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:169510577A>G ENST00000367796.3 - 13 3967 c.3766T>C c.(3766-3768)Tta>Cta p.L1256L F5_ENST00000367797.3_Silent_p.L1251L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1251 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTGAGGTCTAAAGAAAGGGTT 0.522000 11 1718 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26722090 26722090 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr8:26722090G>A ENST00000380573.3 - 2 1420 c.397C>T c.(397-399)Cgc>Tgc p.R133C ADRA1A_ENST00000380581.2_Missense_Mutation_p.R133C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000358857.5_Missense_Mutation_p.R133C|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380587.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380572.3_Missense_Mutation_p.R133C P35348 ADA1A_HUMAN adrenoceptor alpha 1A 133 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) GTTGGGTAGCGCAGCGGGTAG 0.617000 48 148 0 0 1 0 0 TULP3 7289 broad.mit.edu 37 12 3042674 3042674 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr12:3042674G>A ENST00000448120.2 + 7 838 c.787G>A c.(787-789)Gaa>Aaa p.E263K TULP3_ENST00000397132.2_Missense_Mutation_p.E263K NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 263 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TCGTGAAGGAGAAAGTTATGT 0.398000 51 112 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32032046 32032046 + Missense_Mutation SNP G G A rs143925165 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr3:32032046G>A ENST00000360311.4 + 2 2024 c.1475G>A c.(1474-1476)cGt>cAt p.R492H NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCGTCACAATTCA 0.403000 8 372 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 5 394 0 0 1 0 0 LINC00957 0 broad.mit.edu 37 7 44080541 44080541 + RNA SNP G G A rs3099751 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:44080541G>A ENST00000441052.1 + 0 1226 CTGCCGCTGCGCCCCGCACCC 0.617000 15 74 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 62055298 62055298 + Missense_Mutation SNP G G A rs139797882 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr16:62055298G>A ENST00000577390.1 - 2 964 c.10C>T c.(10-12)Cgg>Tgg p.R4W CDH8_ENST00000584337.1_Missense_Mutation_p.R4W|CDH8_ENST00000577730.1_Missense_Mutation_p.R4W|CDH8_ENST00000299345.6_Missense_Mutation_p.R4W NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 4 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TCCGCTAGCCGTTCTGGCATG 0.443000 35 286 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276406 186276406 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:186276406C>A ENST00000445192.2 + 7 1600 c.1555C>A c.(1555-1557)Ccc>Acc p.P519T PRG4_ENST00000367485.4_Missense_Mutation_p.P426T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367486.3_Missense_Mutation_p.P476T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 519 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACTCCCAAGGAGCC 0.642000 8 745 5.50884e-06 5.76154e-06 1 1 0 SUSD2 56241 broad.mit.edu 37 22 24579094 24579094 + Missense_Mutation SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr22:24579094C>G ENST00000358321.3 + 2 407 c.146C>G c.(145-147)tCt>tGt p.S49C NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 49 SMB. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 CCGACGTGCTCTGGCCTTGGC 0.632000 57 542 0 0 1 0 0 PTPRB 0 broad.mit.edu 37 12 71029558 71029558 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr12:71029558C>T ENST00000334414.6 - 2 388 c.344G>A c.(343-345)gGc>gAc p.G115D PTPRB_ENST00000550358.1_Missense_Mutation_p.G115D|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.G114D NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TACTCTGGAGCCTTGTTTCTG 0.493000 39 78 0 0 1 0 0 HACE1 57531 broad.mit.edu 37 6 105198307 105198307 + Missense_Mutation SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr6:105198307C>G ENST00000262903.4 - 20 2528 c.2252G>C c.(2251-2253)aGa>aCa p.R751T HACE1_ENST00000369125.2_Missense_Mutation_p.R536T|HACE1_ENST00000517995.1_5'UTR NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 751 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) CTGAATGGCTCTTGTCATTCG 0.368000 12 159 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 4 159 0 0 1 0 0 UGT1A10 0 broad.mit.edu 37 2 234545236 234545236 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:234545236C>T ENST00000344644.5 + 1 137 c.68C>T c.(67-69)gCc>gTc p.A23V UGT1A10_ENST00000373445.1_Missense_Mutation_p.A23V|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TGTGGCTTTGCCGAGGCAGGG 0.592000 5 389 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 6 281 0 0 1 0 0 BIRC2 329 broad.mit.edu 37 11 102221640 102221640 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:102221640G>C ENST00000227758.2 + 3 2360 c.961G>C c.(961-963)Gat>Cat p.D321H BIRC2_ENST00000532672.1_Missense_Mutation_p.D300H|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.D272H NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 321 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) ATCTGGAGATGATCCATGGGT 0.383000 11 682 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642992 1642992 + Missense_Mutation SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:1642992C>T ENST00000399682.1 - 1 376 c.332G>A c.(331-333)tGt>tAt p.C111Y NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 111 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ACAGGAGCCACAGCCCCCCTT 0.672000 7 394 0 0 1 0 0 ZZZ3 26009 broad.mit.edu 37 1 78031331 78031331 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:78031331G>C ENST00000370801.3 - 15 3181 c.2706C>G c.(2704-2706)aaC>aaG p.N902K ZZZ3_ENST00000370798.1_Missense_Mutation_p.N408K|ZZZ3_ENST00000476275.1_5'UTR NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 902 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 CATGTCATCTGTTTGCTGGAA 0.388000 62 133 0 0 1 0 0 FIP1L1 81608 broad.mit.edu 37 4 54248462 54248462 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr4:54248462G>C ENST00000507166.1 + 4 188 c.188G>C c.(187-189)gGa>gCa p.G63A FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000507922.1_Missense_Mutation_p.G48A|FIP1L1_ENST00000306932.6_Missense_Mutation_p.G48A|FIP1L1_ENST00000337488.6_Missense_Mutation_p.G63A|FIP1L1_ENST00000358575.5_Missense_Mutation_p.G48A Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 63 Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) CCTCCATCTGGAATTGAAGAT 0.333000 T PDGFRA idiopathic hypereosinophilic syndrome 55 82 0 0 1 0 0 PRKCDBP 112464 broad.mit.edu 37 11 6340448 6340448 + Missense_Mutation SNP G G C rs144277485 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:6340448G>C ENST00000303927.3 - 2 901 c.731C>G c.(730-732)cCc>cGc p.P244R PRKCDBP_ENST00000530979.1_Missense_Mutation_p.P276R NM_145040.2 NP_659477.2 Q969G5 PRDBP_HUMAN protein kinase C, delta binding protein 244 large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGTCTCCCGGGATCTTCCTC 0.667000 17 600 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123418920 123418920 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr3:123418920G>A ENST00000360772.3 - 19 3773 c.3395C>T c.(3394-3396)aCg>aTg p.T1132M MYLK_ENST00000360304.3_Missense_Mutation_p.T1132M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1132M|MYLK_ENST00000346322.5_Missense_Mutation_p.T1063M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1132M Q15746 MYLK_HUMAN myosin light chain kinase 1132 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCCGTTCAGCGTCCAGATGAT 0.567000 146 293 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 6 67 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73414444 73414444 + Silent SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr4:73414444C>G ENST00000286657.4 - 3 291 c.255G>C c.(253-255)acG>acC p.T85T ADAMTS3_ENST00000505193.1_5'UTR NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 85 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTCCAAATGCCGTGATGTTAA 0.493000 69 151 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24521586 24521586 + Missense_Mutation SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:24521586A>G ENST00000355123.4 - 13 1885 c.1442T>C c.(1441-1443)aTt>aCt p.I481T ITSN2_ENST00000361999.3_Missense_Mutation_p.I481T|ITSN2_ENST00000406921.3_Missense_Mutation_p.I481T NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 481 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAACCTGACAATTTCTTCTTG 0.398000 119 263 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 9 241 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128294 152128294 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:152128294G>A ENST00000316073.3 - 3 1345 c.1281C>T c.(1279-1281)taC>taT p.Y427Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 427 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGTCTGACCGTAGTGAGAAC 0.522000 12 3634 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57750426 57750426 + Nonsense_Mutation SNP A A C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr5:57750426A>C ENST00000274289.3 - 14 2342 c.2042T>G c.(2041-2043)tTa>tGa p.L681* PLK2_ENST00000502671.1_Intron NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 681 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) ACATCTTTGTAAGAGCATGTT 0.408000 9 256 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 4 138 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73205337 73205337 + Missense_Mutation SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr4:73205337C>G ENST00000286657.4 - 5 771 c.735G>C c.(733-735)atG>atC p.M245I NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 245 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGCGGCGTCTCATTGTTTCAT 0.488000 25 688 0 0 1 0 0 PCDHGA10 0 broad.mit.edu 37 5 140793564 140793564 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr5:140793564C>T ENST00000398610.2 + 1 822 c.822C>T c.(820-822)gaC>gaT p.D274D PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGACAGGGACGAAGGTGCCA 0.458000 8 111 0 0 1 0 0 STEAP3 55240 broad.mit.edu 37 2 120005698 120005698 + Silent SNP C C T rs145832236 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:120005698C>T ENST00000354888.5 + 4 1440 c.936C>T c.(934-936)tgC>tgT p.C312C STEAP3_ENST00000393110.2_Silent_p.C322C|STEAP3_ENST00000393108.2_Silent_p.C312C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393107.2_Silent_p.C312C|STEAP3_ENST00000450943.2_Silent_p.C312C|STEAP3_ENST00000393106.2_Silent_p.C312C|STEAP3_ENST00000409811.1_Silent_p.C312C|STEAP3_ENST00000425223.2_Silent_p.C312C NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 312 Ferric oxidoreductase. apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 GCTTCTTCTGCGCCGCCCTGC 0.677000 69 53 0 0 1 0 0 DCST1 149095 broad.mit.edu 37 1 155018875 155018875 + Missense_Mutation SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:155018875C>G ENST00000295542.1 + 13 1504 c.1408C>G c.(1408-1410)Ctg>Gtg p.L470V DCST1_ENST00000392480.1_Missense_Mutation_p.L470V|DCST1_ENST00000423025.2_Missense_Mutation_p.L445V|DCST1_ENST00000368419.2_Missense_Mutation_p.L470V NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 470 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TCTGCTGCTGCTGGTGGTGCT 0.627000 6 579 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 8 280 0 0 1 0 0 FH 2271 broad.mit.edu 37 1 241671912 241671912 + Silent SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:241671912A>G ENST00000366560.3 - 5 767 c.729T>C c.(727-729)acT>acC p.T243T NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase 243 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) CCTGCCCAAGAGTAAGTGGAA 0.398000 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 130 127 0 0 1 0 0 UPK1A 11045 broad.mit.edu 37 19 36168781 36168781 + Missense_Mutation SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:36168781C>G ENST00000222275.2 + 6 716 c.716C>G c.(715-717)gCc>gGc p.A239G UPK1A_ENST00000379013.2_Missense_Mutation_p.P272A NM_007000.2 NP_008931.1 O00322 UPK1A_HUMAN uroplakin 1A 239 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TTTGGGTTTGCCATCCTGATG 0.657000 5 103 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 6 335 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769663 112769663 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr5:112769663G>A ENST00000390666.3 - 1 1065 c.874C>T c.(874-876)Cgg>Tgg p.R292W CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 292 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TCAGTTCCCCGGGAACTCTCC 0.637000 47 80 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19418752 19418752 + Missense_Mutation SNP G G T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chrX:19418752G>T ENST00000338883.4 - 14 1873 c.1874C>A c.(1873-1875)aCc>aAc p.T625N MAP3K15_ENST00000359173.3_Missense_Mutation_p.T60N|MAP3K15_ENST00000469203.2_Missense_Mutation_p.T457N|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 625 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) TGCTGTATTGGTTATCATCTC 0.433000 7 1000 1.12685e-05 1.17316e-05 1 1 0 TMPRSS6 164656 broad.mit.edu 37 22 37466587 37466587 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr22:37466587C>A ENST00000381792.2 - 15 1918 c.1778G>T c.(1777-1779)tGt>tTt p.C593F TMPRSS6_ENST00000406725.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.C602F Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 602 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 GGCCCCCCCACAGATGTGTCG 0.662000 16 343 6.49762e-13 6.98801e-13 1 1 0 KCNG3 170850 broad.mit.edu 37 2 42719978 42719978 + Splice_Site SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:42719978C>G ENST00000306078.1 - 1 1259 c.665_splice c.e1+1 p.G222_splice KCNG3_ENST00000394973.4_Intron NM_133329.5|NM_172344.2 NP_579875.1|NP_758847.1 Q8TAE7 KCNG3_HUMAN potassium voltage-gated channel, subfamily G, member 3 222 endoplasmic reticulum|voltage-gated potassium channel complex protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 6 GCGTCCTACCCGGAGGGCTCC 0.711000 26 49 0 0 1 0 0 HDGFRP2 0 broad.mit.edu 37 19 4501203 4501203 + Splice_Site SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:4501203A>G ENST00000301284.4 + 15 1869 c.1804_splice c.e15-1 p.D602_splice HDGFRP2_ENST00000586684.1_Splice_Site_p.D602_splice NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 597 transcription, DNA-dependent nucleus DNA binding|protein binding TCCCACCCAGATCTCTCAGCC 0.657000 55 121 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221500 118221500 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chrX:118221500C>A ENST00000402510.2 - 11 3692 c.3693G>T c.(3691-3693)aaG>aaT p.K1231N NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1231 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TGACTTCAGGCTTTGATAAAG 0.448000 23 97 6.12954e-19 6.68677e-19 1 1 0 DCST2 127579 broad.mit.edu 37 1 154998864 154998864 + Missense_Mutation SNP G G T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:154998864G>T ENST00000368424.3 - 10 1583 c.1525C>A c.(1525-1527)Cta>Ata p.L509I DCST2_ENST00000295536.5_Missense_Mutation_p.L509I NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 509 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AAGAAGCATAGGCCATACATG 0.637000 98 344 1.2711e-46 1.44906e-46 1 1 0 PCDHB15 0 broad.mit.edu 37 5 140626038 140626038 + Missense_Mutation SNP T T A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr5:140626038T>A ENST00000231173.3 + 1 892 c.892T>A c.(892-894)Tca>Aca p.S298T NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 298 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGCAGCCTTTCAGGAGAAAT 0.403000 10 427 0 0 1 0 0 C1QB 713 broad.mit.edu 37 1 22986137 22986137 + Splice_Site SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:22986137G>A ENST00000509305.1 + 2 527 c.e2+1 C1QB_ENST00000314933.6_Splice_Site P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GGAGAGAAAGGTACCATGGGA 0.577000 20 18 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50378166 50378166 + Missense_Mutation SNP C C G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chrX:50378166C>G ENST00000376020.2 - 4 932 c.907G>C c.(907-909)Gtc>Ctc p.V303L SHROOM4_ENST00000460112.3_Missense_Mutation_p.V187L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.V303L NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 303 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GGCAAGGGGACCACAGGCTCA 0.587000 23 48 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 5 299 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 105970227 105970227 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chrX:105970227C>T ENST00000255499.2 + 1 334 c.84C>T c.(82-84)gcC>gcT p.A28A RNF128_ENST00000324342.3_Intron NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 28 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 TCCTGCTGGCCCTGAGTCCGC 0.711000 11 26 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142094760 142094760 + Missense_Mutation SNP A A C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr3:142094760A>C ENST00000264951.4 - 25 2975 c.2858T>G c.(2857-2859)gTg>gGg p.V953G XRN1_ENST00000392981.2_Missense_Mutation_p.V953G NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 953 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 ATTTAAACCCACATTTGCTTT 0.403000 63 162 0 0 1 0 0 INTS9 55756 broad.mit.edu 37 8 28717081 28717081 + Splice_Site SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr8:28717081C>A ENST00000416984.2 - 2 369 c.e2-1 INTS9_ENST00000397363.4_Intron|INTS9_ENST00000521777.1_Splice_Site|INTS9_ENST00000521022.1_Splice_Site NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) ACAGGCAATACTGAAAAAAAT 0.383000 29 93 8.88839e-20 9.74305e-20 1 1 0 THBS2 7058 broad.mit.edu 37 6 169639743 169639743 + Silent SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr6:169639743G>A ENST00000366787.3 - 8 1329 c.1080C>T c.(1078-1080)tgC>tgT p.C360C NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 360 VWFC. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) ATGGACTGGCGCAGGTTGCAG 0.512000 5 53 0 0 1 0 0 TEX10 54881 broad.mit.edu 37 9 103090198 103090198 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:103090198G>C ENST00000374902.4 - 8 1848 c.1672C>G c.(1672-1674)Caa>Gaa p.Q558E TEX10_ENST00000535814.1_Missense_Mutation_p.Q561E NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 558 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TGAGCAAGTTGCAATGGTAAG 0.398000 63 110 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 7 363 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39800921 39800922 + Frame_Shift_Del DEL CT CT - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:39800921_39800922delCT ENST00000564288.1 + 37 9438_9439 c.8661_8662delCT c.(8659-8664)tactfs p.YS2887fs MACF1_ENST00000372915.3_Frame_Shift_Del_p.YS2892fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.YS1327fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Del_p.YS2924fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2892 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CACACCCTTACTCTGAATGTGA 0.332 12 305 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325312 47325315 + RNA DEL AGTT AGTT - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:47325312_47325315delAGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAAGTTGTTTTAAGAC 0.412 9 304 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 7 1301 --- --- --- --- LCE4A 199834 broad.mit.edu 37 1 152681680 152681681 + In_Frame_Ins INS - - AGCTCTGGGGGCTGCTGT rs6143428 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:152681680_152681681insAGCTCTGGGGGCTGCTGT ENST00000368777.1 + 2 385_386 c.129_130insAGCTCTGGGGGCTGCTGT c.(127-132)tcgctc>tcAGCTCTGGGGGCTGCTGTgctc p.43_44SL>SALGAAVL LCE4A_ENST00000335535.3_In_Frame_Ins_p.43_44SL>SALGAAVL Q5TA78 LCE4A_HUMAN late cornified envelope 4A 43 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) GCTGTGGCTCCAGCTCTGGGGG 0.599 7 783 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 13 476 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 10 333 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 8 297 --- --- --- --- SUCO 51430 broad.mit.edu 37 1 172571287 172571297 + Frame_Shift_Del DEL AAATACTTCTC AAATACTTCTC - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:172571287_172571297delAAATACTTCTC ENST00000367723.3 + 20 3682_3692 c.3558_3568delAAATACTTCTC c.(3556-3570)cgaafs p.RNTSQ1186fs SUCO_ENST00000263688.3_Frame_Shift_Del_p.RNTSQ1034fs|SUCO_ENST00000486569.1_3'UTR NM_016227.2 NP_057311.2 SUN domain containing ossification factor AGCGTTGTCGAAATACTTCTCAATTTGATGG 0.336 45 334 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276044 186276046 + In_Frame_Del DEL CCA CCA - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr1:186276044_186276046delCCA ENST00000445192.2 + 7 1238_1240 c.1193_1195delCCA c.(1192-1197)ccc>c p.PT398del PRG4_ENST00000367486.3_In_Frame_Del_p.PT355del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT305del|PRG4_ENST00000367484.3_In_Frame_Del_p.PT357del|PRG4_ENST00000367483.4_In_Frame_Del_p.PT357del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 398 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GAGCCTGCACCCACCACCACCAA 0.650 11 765 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:26693554_26693556delCTT ENST00000272371.2 - 32 4054_4056 c.3928_3930delAAG c.(3928-3930)del p.K1310del OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1310 Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCAGTGCCcttcttcttcttc 0.576 8 281 --- --- --- --- TSPYL6 388951 broad.mit.edu 37 2 54482718 54482719 + Frame_Shift_Ins INS - - C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:54482718_54482719insC ENST00000317802.7 - 1 690_691 c.570_571insG c.(568-573)ggccggfs p.R191fs ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 191 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 CCGGGCCCGGGCCCAGGCCCTG 0.614 16 202 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 10 371 --- --- --- --- SRGAP3 9901 broad.mit.edu 37 3 9027284 9027286 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr3:9027284_9027286delGCT ENST00000383836.3 - 22 3644_3646 c.3217_3219delAGC c.(3217-3219)del p.S1074del SRGAP3_ENST00000360413.3_In_Frame_Del_p.S1050del NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 1074 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CCACGCCCGAGCTGCTGCTGCTG 0.739 T RAF1 pilocytic astrocytoma 8 143 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71247357 71247359 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr3:71247357_71247359delTGC ENST00000318789.4 - 6 699_701 c.174_176delGCA c.(172-177)caa>ca p.QQ58del FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000484350.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del|FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 58 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CAGTACCTGTTGCTGCTGCTGCT 0.586 T PAX5 ALL 7 412 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 8 994 --- --- --- --- CDS1 1040 broad.mit.edu 37 4 85556475 85556475 + Frame_Shift_Del DEL T T - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr4:85556475delT ENST00000295887.5 + 8 1204 c.781delT c.(781-783)ttfs p.F263fs NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 263 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) CCTTTTTGGATTTTTTTTTGG 0.308 8 383 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 7 169 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 123980108 123980111 + Frame_Shift_Del DEL TCTT TCTT - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr5:123980108_123980111delTCTT ENST00000306315.5 - 5 4384_4387 c.3949_3952delAAGA c.(3949-3954)ctfs p.KT1317fs ZNF608_ENST00000504926.1_Frame_Shift_Del_p.KT890fs NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1317 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TTCACAGGAGTCTTTCGATCATCA 0.461 10 582 --- --- --- --- PDGFRB 5159 broad.mit.edu 37 5 149510155 149510156 + Frame_Shift_Ins INS - - C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr5:149510155_149510156insC ENST00000261799.4 - 9 1782_1783 c.1313_1314insG c.(1312-1314)gcgfs p.A438fs NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 438 Ig-like C2-type 5. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCATGCCCCGGCCACGACAGCG 0.614 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" OREG0016927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 763 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 7 26 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 10 47 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72040750 72040751 + RNA INS - - A rs72347331 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:72040750_72040751insA ENST00000438125.1 - 0 1399 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AACATCCCTAGAAAAAAAAAAT 0.332 7 131 --- --- --- --- PTCD1 26024 broad.mit.edu 37 7 99032605 99032607 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:99032605_99032607delCTC ENST00000292478.4 - 2 509_511 c.259_261delGAG c.(259-261)del p.E87del PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 p.E87K(1) endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCCCAAAACTCTCCTCCTCCTCC 0.606 8 725 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100281686 100281688 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:100281686_100281688delGCT ENST00000275732.5 - 15 3032_3034 c.1823_1825delAGC c.(1822-1827)ctc>c p.QL608del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 608 Gln-rich.|Poly-Gln. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) AATGCCGTGAGCTGCTGCTGCTG 0.690 8 186 --- --- --- --- PRSS1 5644 broad.mit.edu 37 7 142459745 142459747 + In_Frame_Del DEL CAT CAT - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:142459745_142459747delCAT ENST00000486171.1 + 4 380_382 c.363_365delCAT c.(361-366)gac>ga p.DI121del PRSS1_ENST00000311737.7_In_Frame_Del_p.DI107del P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 107 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TGAACAATGACATCATGTTAATC 0.547 313 458 --- --- --- --- PRSS1 5644 broad.mit.edu 37 7 142460367 142460369 + In_Frame_Del DEL CAG CAG - rs140218757 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr7:142460367_142460369delCAG ENST00000486171.1 + 5 599_601 c.582_584delCAG c.(580-585)acc>ac p.TS194del PRSS1_ENST00000311737.7_In_Frame_Del_p.TS180del P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 180 Peptidase S1. Required for specificity (By similarity). digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GAAAGATTACCAGCAACATGTTC 0.557 34 1065 --- --- --- --- TEX15 56154 broad.mit.edu 37 8 30695491 30695491 + Frame_Shift_Del DEL T T - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr8:30695491delT ENST00000256246.2 - 3 7234 c.7160delA c.(7159-7161)agfs p.K2387fs NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2387 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CATTTCAACCTTTTTTGGCGT 0.388 9 511 --- --- --- --- PTPLAD2 401494 broad.mit.edu 37 9 21007045 21007046 + Frame_Shift_Ins INS - - T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:21007045_21007046insT ENST00000495827.1 - 7 734_735 c.689_690insA c.(688-690)aaafs p.K230fs PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 230 Poly-Lys. fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TTCACATCTTCTTTTTTTTAAT 0.371 8 181 --- --- --- --- PRSS3 5646 broad.mit.edu 37 9 33798572 33798574 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:33798572_33798574delCAG ENST00000361005.5 + 4 714_716 c.714_716delCAG c.(712-717)aac>aa p.NS238del PRSS3_ENST00000379405.3_In_Frame_Del_p.NS181del|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000429677.3_In_Frame_Del_p.NS174del|PRSS3_ENST00000342836.4_In_Frame_Del_p.NS195del NM_007343.3 NP_031369.2 P35030 TRY3_HUMAN protease, serine, 3 238 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) AGATTACCAACAGCATGTTCTGT 0.576 13 722 --- --- --- --- NR4A3 0 broad.mit.edu 37 9 102590616 102590618 + In_Frame_Del DEL CAC CAC - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:102590616_102590618delCAC ENST00000330847.1 + 2 369_371 c.325_327delCAC c.(325-327)del p.H119del NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 108 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ccatcaccatcaccaccaccacc 0.616 T EWSR1 extraskeletal myxoid chondrosarcoma 7 147 --- --- --- --- ABCA1 19 broad.mit.edu 37 9 107591266 107591282 + Frame_Shift_Del DEL CCAGAGGATGCTGTTGT CCAGAGGATGCTGTTGT - rs144845639 byFrequency TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr9:107591266_107591282delCCAGAGGATGCTGTTGT ENST00000374736.3 - 15 2424_2440 c.2030_2046delACAACAGCATCCTCTGG c.(2029-2046)gfs p.DNSILW677fs ABCA1_ENST00000494467.1_5'UTR NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 677 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACCAGCTAAACCAGAGGATGCTGTTGTCCAGGCCCAT 0.539 22 191 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 15 552 --- --- --- --- OR5A1 219982 broad.mit.edu 37 11 59210950 59210951 + Frame_Shift_Ins INS - - T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr11:59210950_59210951insT ENST00000302030.2 + 1 334_335 c.309_310insT c.(307-312)cattttfs p.HF103fs NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 GTGCTGCTCAGTTTTTTTTCTT 0.510 8 595 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 8 292 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 12 535 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25525716 25525716 + RNA DEL A A - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr13:25525716delA ENST00000429698.1 - 0 282 TGGAAGAAACAAAAAAAAGAA 0.383 5 11 --- --- --- --- BRCA2 675 broad.mit.edu 37 13 32937480 32937480 + Frame_Shift_Del DEL A A - rs80359059 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr13:32937480delA ENST00000544455.1 + 18 8368 c.8141delA c.(8140-8142)cafs p.Q2714fs BRCA2_ENST00000380152.3_Frame_Shift_Del_p.Q2714fs NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2714 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GCAGATACCCAAAAAGTGGCC 0.398 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 137 340 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr13:100635008_100635010delCCA ENST00000376335.3 + 1 983_985 c.690_692delCCA c.(688-693)gcc>gc p.AH230del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 230 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.621 9 216 --- --- --- --- TM6SF1 53346 broad.mit.edu 37 15 83805312 83805312 + Frame_Shift_Del DEL T T - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr15:83805312delT ENST00000322019.9 + 10 1275 c.1001delT c.(1000-1002)ctfs p.L334fs TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs|TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 334 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 GCAAAAATCCTTTTTTTAGCA 0.368 7 625 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 10 119 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 9 87 --- --- --- --- BRICD5 283870 broad.mit.edu 37 16 2260586 2260588 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr16:2260586_2260588delCAG ENST00000328540.3 - 2 1231_1233 c.115_117delCTG c.(115-117)del p.L39del BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGGCcagcaccagcagcagcagc 0.660 8 138 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:16335490_16335492delTGC ENST00000338560.7 + 12 2264_2266 c.1865_1867delTGC c.(1864-1869)gtg>g p.VL622del TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 622 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 13 297 --- --- --- --- TEX2 55852 broad.mit.edu 37 17 62291438 62291440 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:62291438_62291440delTCC ENST00000258991.3 - 2 222_224 c.138_140delGGA c.(136-141)gaa>ga p.EE50del TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del Q8IWB9 TEX2_HUMAN testis expressed 2 50 Poly-Glu. signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ctcctcctcttcctcctcctcct 0.552 9 392 --- --- --- --- TNRC6C 57690 broad.mit.edu 37 17 76047129 76047153 + Frame_Shift_Del DEL CCCCCAACAGAACTGGGCTAGCAAA CCCCCAACAGAACTGGGCTAGCAAA - rs114241857 by1000genomes TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:76047129_76047153delCCCCCAACAGAACTGGGCTAGCAAA ENST00000335749.4 + 3 2555_2579 c.1986_2010delCCCCCAACAGAACTGGGCTAGCAAA c.(1984-2010)ggfs p.GPQQNWASK662fs TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.GPQQNWASK662fs NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 662 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TAAAACCTGGCCCCCAACAGAACTGGGCTAGCAAACCCCAAGACA 0.538 9 87 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr17:78201649_78201651delTGC ENST00000361193.3 + 7 906_908 c.626_628delTGC c.(625-630)atg>a p.ML209del SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 209 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTGGTCTGCATGCTGCTGCTGCT 0.675 8 660 --- --- --- --- RP11-905K4.1 0 broad.mit.edu 37 18 33545155 33545156 + RNA DEL CT CT - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr18:33545155_33545156delCT ENST00000589074.1 - 0 374 cctcctcttcctcttcttcttt 0.480 2 4 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 7 155 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 12 165 --- --- --- --- TEAD2 8463 broad.mit.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:49850472_49850473insG ENST00000377214.4 - 8 1254_1255 c.892_893insC c.(892-894)tgcfs p.C298fs TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs Q15562 TEAD2_HUMAN TEA domain family member 2 295 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H295fs*12(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAAGAAGGCATGGGGGGGGCCA 0.564 8 870 --- --- --- --- MYH14 79784 broad.mit.edu 37 19 50753776 50753777 + Frame_Shift_Ins INS - - C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr19:50753776_50753777insC ENST00000440075.2 + 15 1708_1709 c.1661_1662insC c.(1660-1662)accfs p.T554fs MYH14_ENST00000376970.2_Frame_Shift_Ins_p.T546fs|MYH14_ENST00000596571.1_Frame_Shift_Ins_p.T546fs|MYH14_ENST00000425460.1_Frame_Shift_Ins_p.T554fs|MYH14_ENST00000262269.8_Frame_Shift_Ins_p.T554fs|MYH14_ENST00000598205.1_Frame_Shift_Ins_p.T554fs|MYH14_ENST00000601313.1_Frame_Shift_Ins_p.T554fs Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 546 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGCCAGGCCAACCCCCCTGGAC 0.574 21 68 --- --- --- --- TRAPPC10 7109 broad.mit.edu 37 21 45472274 45472275 + Frame_Shift_Ins INS - - A rs149217788 byFrequency TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chr21:45472274_45472275insA ENST00000291574.4 + 4 574_575 c.399_400insA c.(397-402)aaaaaafs p.KK133fs TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 133 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity p.K133N(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 ATGATGCCAAGAAAAAAAACAA 0.356 8 370 --- --- --- --- PIR 8544 broad.mit.edu 37 X 15497935 15497946 + Splice_Site DEL GATTTTTTAACT GATTTTTTAACT - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chrX:15497935_15497946delGATTTTTTAACT ENST00000380421.3 - 3 557_566 c.96_splice c.e3-1 p.33_splice BMX_ENST00000357607.2_Intron|PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Splice_Site_p.33_splice NM_001018109.2|NM_003662.3 NP_001018119.1|NP_003653.1 O00625 PIR_HUMAN pirin (iron-binding nuclear protein) 33 transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 Hepatocellular(33;0.183) AACGGATCCAGATTTTTTAACTGAAATAAAAA 0.335 9 170 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994639 140994641 + In_Frame_Del DEL CTC CTC - rs144357389 byFrequency TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chrX:140994639_140994641delCTC ENST00000285879.4 + 4 1735_1737 c.1449_1451delCTC c.(1447-1452)agc>ag p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.473 HNSCC(15;0.026) 9 1473 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c40787c-0278-4af4-9040-ab073ef2287b 6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8 g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 502 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AAGCcagcaacagcagcagcagc 0.532 7 348 --- --- --- ---