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 IK 3550 broad.mit.edu 37 5 140038918 140038918 + Splice_Site SNP G G T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr5:140038918G>T ENST00000417647.2 + 13 1334 c.1195_splice c.e13+1 p.G399_splice NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 399 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTTGACAAAGGTGAGTTGTA 0.498000 4 78 0.014758 0.0202239 0.014758 1 0 TMPRSS11B 132724 broad.mit.edu 37 4 69107516 69107516 + Silent SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr4:69107516G>A ENST00000332644.5 - 2 176 c.15C>T c.(13-15)ggC>ggT p.G5G NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 5 proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 GGGAAGATATGCCGTGCCTAT 0.378000 15 36 0 0 0.033300 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254993 30254993 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chrX:30254993G>A ENST00000361644.2 + 5 1689 c.952G>A c.(952-954)Gtc>Atc p.V318I MAGEB3_ENST00000378986.1_Missense_Mutation_p.V318I NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 318 NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 GGAAGAAAGAGTCCAAGCTGC 0.502000 3 40 0 0 0.009096 0 0 MYOM3 127294 broad.mit.edu 37 1 24424482 24424482 + Missense_Mutation SNP C C T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr1:24424482C>T ENST00000330966.7 - 7 841 c.679G>A c.(679-681)Gca>Aca p.A227T MYOM3_ENST00000329601.7_Missense_Mutation_p.A226T|MYOM3_ENST00000374434.3_Missense_Mutation_p.A226T|MYOM3_ENST00000475306.1_5'UTR Q5VTT5 MYOM3_HUMAN myomesin 3 226 Ig-like C2-type 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GTGTAAGTTGCTGAGTCCTCA 0.582000 4 205 0 0 0.009096 0 0 PTDSS2 81490 broad.mit.edu 37 11 490485 490485 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:490485G>A ENST00000308020.5 + 12 1543 c.1367G>A c.(1366-1368)aGc>aAc p.S456N NM_030783.1 NP_110410.1 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 456 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) GACCAGGGCAGCACCGTCGGC 0.657000 3 52 0 0 0.009096 0 0 PRKD1 5587 broad.mit.edu 37 14 30133033 30133033 + Missense_Mutation SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr14:30133033A>G ENST00000331968.5 - 4 797 c.568T>C c.(568-570)Ttt>Ctt p.F190L PRKD1_ENST00000415220.2_Missense_Mutation_p.F190L NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 190 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GGTATTTTAAATGCACATCTC 0.403000 12 228 0 0 0.119110 0 0 MYO1C 4641 broad.mit.edu 37 17 1381773 1381773 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr17:1381773G>A ENST00000359786.5 - 11 1550 c.1226C>T c.(1225-1227)cCc>cTc p.P409L MYO1C_ENST00000545534.2_Missense_Mutation_p.P385L|MYO1C_ENST00000438665.2_Missense_Mutation_p.P390L|MYO1C_ENST00000361007.2_Missense_Mutation_p.P374L|MYO1C_ENST00000575158.1_Missense_Mutation_p.P374L NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 409 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCGCCAGCTGGGGCTCTCCAC 0.652000 5 84 0 0 0.014758 0 0 MDN1 23195 broad.mit.edu 37 6 90371839 90371839 + Silent SNP T T C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr6:90371839T>C ENST00000369393.3 - 87 14647 c.14532A>G c.(14530-14532)caA>caG p.Q4844Q MDN1_ENST00000428876.1_Silent_p.Q4844Q Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4844 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGTCTTCACCTTGTCCACCAT 0.388000 3 172 0 0 0.115264 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 3 58 0 0 0.115264 0 0 ARMC3 219681 broad.mit.edu 37 10 23292246 23292246 + Missense_Mutation SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr10:23292246A>G ENST00000298032.5 + 13 1718 c.1634A>G c.(1633-1635)aAt>aGt p.N545S ARMC3_ENST00000409983.3_Missense_Mutation_p.N545S|ARMC3_ENST00000409049.3_Missense_Mutation_p.N545S|ARMC3_ENST00000376528.4_Missense_Mutation_p.N282S NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 545 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCAGCTTATAATAAGTTGCTC 0.348000 17 101 0 0 0.038395 0 0 KMT2A 4297 broad.mit.edu 37 11 118361935 118361935 + Missense_Mutation SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:118361935A>G ENST00000534358.1 + 14 4744 c.4721A>G c.(4720-4722)aAa>aGa p.K1574R KMT2A_ENST00000389506.5_Missense_Mutation_p.K1574R|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1536R NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CTCTGTGACAAATGTTATGAT 0.433000 3 159 0 0 0.014758 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956155 18956155 + Silent SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:18956155G>A ENST00000302797.3 - 1 401 c.177C>T c.(175-177)aaC>aaT p.N59N MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 59 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGGAGAAGGCGTTCCTGCGCA 0.562000 6 202 0 0 0.021553 0 0 PAK3 5063 broad.mit.edu 37 X 110406220 110406220 + Missense_Mutation SNP A A T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chrX:110406220A>T ENST00000519681.1 + 10 1051 c.609A>T c.(607-609)gaA>gaT p.E203D PAK3_ENST00000372010.1_Missense_Mutation_p.E197D|PAK3_ENST00000360648.4_Missense_Mutation_p.E218D|PAK3_ENST00000518291.1_Missense_Mutation_p.E218D|PAK3_ENST00000262836.4_Missense_Mutation_p.E197D|PAK3_ENST00000446737.1_Missense_Mutation_p.E182D|PAK3_ENST00000425146.1_Missense_Mutation_p.E182D|PAK3_ENST00000417227.1_Missense_Mutation_p.E203D|PAK3_ENST00000372007.4_Missense_Mutation_p.E182D O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding p.E182D(1)|p.E218D(1) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 aagaagaagaagatgaaAATG 0.403000 TSP Lung(19;0.15) 4 117 0 0 0.009096 0 0 TBC1D22B 55633 broad.mit.edu 37 6 37254821 37254821 + Silent SNP G G A rs74511891 by1000genomes TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr6:37254821G>A ENST00000373491.3 + 7 986 c.840G>A c.(838-840)ccG>ccA p.P280P NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 280 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) CTCTCATTCCGTTGTTCCAGC 0.418000 70 96 0 0 0.139131 0 0 NRXN2 9379 broad.mit.edu 37 11 64415766 64415766 + Missense_Mutation SNP C C T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:64415766C>T ENST00000265459.6 - 17 3789 c.3328G>A c.(3328-3330)Gtc>Atc p.V1110I NRXN2_ENST00000409571.1_Missense_Mutation_p.V1103I|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.V1070I|NRXN2_ENST00000377551.1_Missense_Mutation_p.V1110I NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1110 EGF-like 3. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TGCAAGCAGACGCCCTGGTTG 0.632000 5 110 0 0 0.014758 0 0 PA2G4 5036 broad.mit.edu 37 12 56500441 56500441 + Missense_Mutation SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr12:56500441A>G ENST00000303305.6 + 2 577 c.158A>G c.(157-159)gAt>gGt p.D53G RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.D53G|RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.D34G NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 53 RNA-binding. cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) gagaaaggtgatgccatgATT 0.433000 20 34 0 0 0.055883 0 0 KLHL41 10324 broad.mit.edu 37 2 170367185 170367185 + Silent SNP A A C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr2:170367185A>C ENST00000284669.1 + 1 974 c.897A>C c.(895-897)ggA>ggC p.G299G RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 CCAGGCATGGAATGTTTGTAA 0.473000 3 80 0 0 0.115264 0 0 NCOA1 8648 broad.mit.edu 37 2 24964736 24964736 + Silent SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr2:24964736G>A ENST00000405141.1 + 20 4098 c.3387G>A c.(3385-3387)caG>caA p.Q1129Q NCOA1_ENST00000288599.5_Silent_p.Q1129Q|NCOA1_ENST00000538539.1_Silent_p.Q1129Q|NCOA1_ENST00000395856.3_Silent_p.Q1129Q|NCOA1_ENST00000407230.1_Silent_p.Q978Q|NCOA1_ENST00000406961.1_Silent_p.Q1129Q|NCOA1_ENST00000348332.3_Silent_p.Q1129Q Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 1129 Gln-rich. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAATACAGCAGCAAAGAGCCA 0.522000 T PAX3 alveolar rhadomyosarcoma 3 76 0 0 0.009096 0 0 FMN2 56776 broad.mit.edu 37 1 240371079 240371079 + Silent SNP T T G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr1:240371079T>G ENST00000319653.9 + 5 3197 c.2967T>G c.(2965-2967)ccT>ccG p.P989P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 989 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TACCCCCTCCTCCCCCACTTC 0.711000 4 121 0 0 0.009096 0 0 USP36 57602 broad.mit.edu 37 17 76802345 76802345 + Silent SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr17:76802345G>A ENST00000312010.6 - 15 2433 c.2109C>T c.(2107-2109)acC>acT p.T703T USP36_ENST00000449938.2_Silent_p.T403T|USP36_ENST00000542802.2_Silent_p.T703T NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 703 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity p.T703T(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) GGTCATTGCCGGTCGCCCTCC 0.542000 3 108 0 0 0.115264 0 0 AGO2 27161 broad.mit.edu 37 8 141559263 141559263 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr8:141559263G>A ENST00000220592.5 - 12 1650 c.1538C>T c.(1537-1539)gCg>gTg p.A513V AGO2_ENST00000519980.1_Missense_Mutation_p.A513V NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 p.A513V(1) CTGCAGGCCCGCATACGTGTT 0.682000 3 48 0 0 0.115264 0 0 IGHV3-49 0 broad.mit.edu 37 14 107013366 107013366 + RNA SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr14:107013366A>G ENST00000390625.2 - 0 111 TAAAATAGCAACAAGGAAAAC 0.478000 4 180 0 0 0.021553 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 164 0 0 0.021553 0 0 MOGAT2 80168 broad.mit.edu 37 11 75442250 75442250 + Silent SNP T T C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:75442250T>C ENST00000526712.1 + 5 1451 c.678T>C c.(676-678)taT>taC p.Y226Y MOGAT2_ENST00000198801.5_Silent_p.Y308Y Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 308 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) ACCAGCGTTATATCAAAGAGC 0.562000 4 127 0 0 0.014758 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110035909 110035909 + Missense_Mutation SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:110035909A>G ENST00000453089.2 + 5 2887 c.2006A>G c.(2005-2007)aAg>aGg p.K669R ZC3H12C_ENST00000528673.1_Missense_Mutation_p.K701R|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.K700R Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 700 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) TTCCATCACAAGCCTCCTCTT 0.587000 12 311 0 0 0.105934 0 0 SULT1A1 6817 broad.mit.edu 37 16 28620147 28620147 + Silent SNP C C T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr16:28620147C>T ENST00000395609.1 - 4 788 c.30G>A c.(28-30)ccG>ccA p.P10P SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000395607.1_Silent_p.P10P|SULT1A1_ENST00000569554.1_Silent_p.P10P|SULT1A1_ENST00000314752.7_Silent_p.P10P P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 10 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 ACTCCAGTGGCGGGCGGGAGG 0.607000 14 77 0 0 0.033300 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144859906 144859906 + Missense_Mutation SNP G G T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr1:144859906G>T ENST00000369359.4 - 41 6624 c.6586C>A c.(6586-6588)Cag>Aag p.Q2196K PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2145K|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q2060K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2060K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1954K Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2060 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGAATGCTCTGCTCCAGCTGC 0.577000 T PDGFRB MPD 8 135 0.00448238 0.00625842 0.047766 1 0 ZNF611 81856 broad.mit.edu 37 19 53208567 53208567 + Missense_Mutation SNP G G C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr19:53208567G>C ENST00000543227.1 - 6 2015 c.1741C>G c.(1741-1743)Ctt>Gtt p.L581V ZNF611_ENST00000540744.1_Missense_Mutation_p.L581V|ZNF611_ENST00000595798.1_Missense_Mutation_p.L512V|ZNF611_ENST00000453741.2_Missense_Mutation_p.L512V|ZNF611_ENST00000319783.1_Missense_Mutation_p.L581V|ZNF611_ENST00000602162.1_Missense_Mutation_p.L512V NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 581 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TGGCATACAAGGTATGACCTG 0.438000 19 399 0 0 0.055883 0 0 LSR 51599 broad.mit.edu 37 19 35757281 35757281 + Silent SNP A A T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr19:35757281A>T ENST00000602122.1 + 5 1372 c.885A>T c.(883-885)gcA>gcT p.A295A LSR_ENST00000361790.3_Silent_p.A314A|LSR_ENST00000354900.3_Silent_p.A295A|LSR_ENST00000347609.4_Silent_p.A277A|LSR_ENST00000427250.1_Silent_p.A158A|LSR_ENST00000360798.3_Silent_p.A246A Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 314 Cys-rich. embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCGGCAAAGCAGCCACCTCAG 0.617000 7 202 0 0 0.047766 0 0 ITPR2 3709 broad.mit.edu 37 12 26731693 26731693 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr12:26731693G>A ENST00000381340.3 - 34 4999 c.4583C>T c.(4582-4584)gCg>gTg p.A1528V NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1528 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GGCTTTCTGCGCTGGGTTTGG 0.393000 12 123 0 0 0.119110 0 0 ZBTB22 0 broad.mit.edu 37 6 33283595 33283595 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr6:33283595G>A ENST00000431845.2 - 2 1250 c.1099C>T c.(1099-1101)Ccc>Tcc p.P367S ZBTB22_ENST00000418724.1_Missense_Mutation_p.P367S NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 TTGTCTGGGGGCTCACTCAGG 0.577000 14 156 0 0 0.119110 0 0 PPWD1 23398 broad.mit.edu 37 5 64875316 64875316 + Missense_Mutation SNP T T G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr5:64875316T>G ENST00000261308.5 + 7 1298 c.1226T>G c.(1225-1227)aTa>aGa p.I409R PPWD1_ENST00000538977.1_Missense_Mutation_p.I253R|PPWD1_ENST00000535264.1_Missense_Mutation_p.I379R NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 409 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) TTCCAGGGGATAGCCAAAAAG 0.358000 3 71 0 0 0.115264 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962710 69962710 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr4:69962710G>A ENST00000305231.7 + 1 518 c.472G>A c.(472-474)Gag>Aag p.E158K UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.E158K NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 158 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCCCTGTAGTGAGCTGCTGGC 0.368000 36 117 0 0 0.117977 0 0 FBXO11 80204 broad.mit.edu 37 2 48066119 48066119 + Nonsense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr2:48066119G>A ENST00000403359.3 - 4 538 c.466C>T c.(466-468)Cag>Tag p.Q156* FBXO11_ENST00000316377.4_Nonsense_Mutation_p.Q72*|FBXO11_ENST00000402508.1_Nonsense_Mutation_p.Q72*|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000378314.3_Nonsense_Mutation_p.Q38* NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 156 F-box. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGTTTCTCCTGAAGATACTGT 0.353000 """Mis, F, D""" DLBCL 5 101 0 0 0.014758 0 0 PPWD1 23398 broad.mit.edu 37 5 64875317 64875317 + Silent SNP A A C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr5:64875317A>C ENST00000261308.5 + 7 1299 c.1227A>C c.(1225-1227)atA>atC p.I409I PPWD1_ENST00000538977.1_Silent_p.I253I|PPWD1_ENST00000535264.1_Silent_p.I379I NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 409 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) TCCAGGGGATAGCCAAAAAGC 0.358000 3 71 0 0 0.115264 0 0 SRPR 6734 broad.mit.edu 37 11 126134958 126134958 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:126134958G>A ENST00000332118.6 - 11 1575 c.1421C>T c.(1420-1422)gCc>gTc p.A474V SRPR_ENST00000532259.1_Missense_Mutation_p.A446V NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 474 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) AGGGTGTAGGGCACTCAAACG 0.552000 3 49 0 0 0.009096 0 0 OR8H2 390151 broad.mit.edu 37 11 55872537 55872537 + Missense_Mutation SNP A A G rs61746549 byFrequency TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:55872537A>G ENST00000313503.1 + 1 19 c.19A>G c.(19-21)Aac>Gac p.N7D NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N7D(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TAGAAGGAATAACACAAATGT 0.438000 HNSCC(53;0.14) 4 227 0 0 0.014758 0 0 RP11-368J21.3 0 broad.mit.edu 37 16 22588087 22588087 + RNA SNP G G C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr16:22588087G>C ENST00000550753.1 + 0 2562 NR_003676.2 GTGGGACACCGTTCCCTGGAT 0.522000 4 21 0 0 0.009096 0 0 MOV10 4343 broad.mit.edu 37 1 113241362 113241362 + Missense_Mutation SNP C C G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr1:113241362C>G ENST00000369644.1 + 18 3395 c.2366C>G c.(2365-2367)aCc>aGc p.T789S MOV10_ENST00000413052.2_Missense_Mutation_p.T845S|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.T845S|MOV10_ENST00000369645.1_Missense_Mutation_p.T845S Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 845 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TACTGCATCACCAAACTTGAC 0.557000 4 283 0 0 0.029380 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 166 0 0 0.021553 0 0 EID3 493861 broad.mit.edu 37 12 104698071 104698071 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr12:104698071G>A ENST00000527879.1 + 1 555 c.359G>A c.(358-360)tGt>tAt p.C120Y TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000388854.3_Intron NM_001008394.2 NP_001008395.1 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 3 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TTAGCATTTTGTGACTTTCTG 0.428000 5 247 0 0 0.021553 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 3 75 0 0 0.021553 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70968592 70968592 + Missense_Mutation SNP C C G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr10:70968592C>G ENST00000359655.4 + 15 2222 c.2162C>G c.(2161-2163)aCt>aGt p.T721S NM_003171.3 NP_003162.2 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 (S. cerevisiae) 721 Interaction with HBXIP, important for protein stability. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGTAAAGCTACTGAGCCACCC 0.537000 3 83 0 0 0.009096 0 0 ELMO1 9844 broad.mit.edu 37 7 37172827 37172827 + Missense_Mutation SNP G G C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr7:37172827G>C ENST00000310758.4 - 14 1746 c.1099C>G c.(1099-1101)Cct>Gct p.P367A ELMO1_ENST00000442504.1_Missense_Mutation_p.P367A|ELMO1_ENST00000341056.3_Missense_Mutation_p.P69A|ELMO1_ENST00000448602.1_Missense_Mutation_p.P367A NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 367 ELMO. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TCCATGGCAGGGTTGACATGA 0.463000 32 71 0 0 0.144211 0 0 SYT12 91683 broad.mit.edu 37 11 66807525 66807525 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:66807525G>A ENST00000393946.2 + 7 1634 c.472G>A c.(472-474)Gtg>Atg p.V158M SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000525457.1_Missense_Mutation_p.V158M|SYT12_ENST00000527043.1_Missense_Mutation_p.V158M Q8IV01 SYT12_HUMAN synaptotagmin XII 158 cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 CCAGGTGGAGGTGAGCATGGA 0.627000 5 113 0 0 0.021553 0 0 DEK 7913 broad.mit.edu 37 6 18264079 18264081 + In_Frame_Del DEL TCC TCC - TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr6:18264079_18264081delTCC ENST00000397239.3 - 2 585_587 c.138_140delGGA c.(136-141)gaa>ga p.EE46del DEK_ENST00000244776.7_In_Frame_Del_p.EE46del NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 46 Asp/Glu-rich (highly acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCACCTTTTtcctcctcctcct 0.532 T NUP214 AML 12 97 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522327 32522328 + RNA INS - - CCCAGTAG rs144707340 by1000genomes TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr6:32522327_32522328insCCCAGTAG ENST00000411500.1 - 0 740 NR_001298.1 ACAGGGCTACCCCCAGTGACCT 0.510 3 6 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523273 32523274 + RNA DEL GA GA - TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr6:32523273_32523274delGA ENST00000411500.1 - 0 458 NR_001298.1 ATTCCACTGTGAGAGGGCTCAT 0.396 9 38 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891253 6891255 + In_Frame_Del DEL TTC TTC - TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:6891253_6891255delTTC ENST00000307322.4 + 1 330_332 c.268_270delTTC c.(268-270)del p.F94del NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAGATGTATTTCTTCTTCTTCT 0.517 7 178 --- --- --- --- HECTD4 283450 broad.mit.edu 37 12 112677750 112677751 + Frame_Shift_Ins INS - - A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr12:112677750_112677751insA ENST00000550722.1 - 33 4996_4997 c.4601_4602insT c.(4600-4602)ctgfs p.L1534fs HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.L1258fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.L1508fs NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AACGAGCACACAGAGACACAAC 0.465 8 103 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 7 332 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20243404 20243405 + RNA DEL AC AC - TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr19:20243404_20243405delAC ENST00000590606.1 - 0 188 CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA TCCCTGGAAAACACACACACAC 0.411 11 155 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 8 146 --- --- --- ---