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 ATF2 1386 broad.mit.edu 37 2 175962238 175962238 + Missense_Mutation SNP C C A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr2:175962238C>A ENST00000264110.2 - 11 1210 c.912G>T c.(910-912)agG>agT p.R304S ATF2_ENST00000409437.1_Missense_Mutation_p.R188S|ATF2_ENST00000426833.3_Missense_Mutation_p.R286S|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Missense_Mutation_p.R246S|ATF2_ENST00000392544.1_Missense_Mutation_p.R304S|ATF2_ENST00000538946.1_Missense_Mutation_p.R286S|ATF2_ENST00000409635.1_Missense_Mutation_p.R246S|ATF2_ENST00000392543.2_Intron NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 304 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) CTGACTGAGTCCTAACCAATC 0.453 44 52 --- --- --- --- ITGA4 3676 broad.mit.edu 37 2 182339937 182339937 + Missense_Mutation SNP C C A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr2:182339937C>A ENST00000397033.2 + 4 908 c.478C>A c.(478-480)Ctc>Atc p.L160I ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.L160I NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 160 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TGAAAATAAGCTCCCCACTGG 0.383 41 52 --- --- --- --- DOCK10 55619 broad.mit.edu 37 2 225698898 225698898 + Missense_Mutation SNP T T A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr2:225698898T>A ENST00000409592.3 - 26 3028 c.2915A>T c.(2914-2916)aAt>aTt p.N972I DOCK10_ENST00000258390.7_Missense_Mutation_p.N978I Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 978 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TGTTGAGTCATTTGATTTCAA 0.403 33 35 --- --- --- --- SLC34A2 10568 broad.mit.edu 37 4 25673235 25673235 + Missense_Mutation SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr4:25673235G>A ENST00000382051.3 + 9 990 c.940G>A c.(940-942)Gtc>Atc p.V314I SLC34A2_ENST00000503434.1_Missense_Mutation_p.V313I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V313I NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 314 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CCAGATTAACGTCACTGTTCC 0.522 T ROS1 NSCLC 79 94 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139907827 139907827 + Missense_Mutation SNP C C A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr5:139907827C>A ENST00000297183.6 + 29 5420 c.5296C>A c.(5296-5298)Cct>Act p.P1766T ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1766T|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P149T|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1766T NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATTCAAGATCCTGCTAAGGA 0.383 28 39 --- --- --- --- RUFY2 55680 broad.mit.edu 37 10 70105526 70105526 + Nonstop_Mutation SNP C C A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr10:70105526C>A ENST00000388768.2 - 18 2251 c.1925G>T c.(1924-1926)tGa>tTa p.*642L RUFY2_ENST00000602465.1_Nonstop_Mutation_p.*607L|RUFY2_ENST00000265865.3_Nonstop_Mutation_p.*197L NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 0 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 TCTGGAGTCTCAGGGCAAGTT 0.423 24 37 --- --- --- --- ZRANB1 54764 broad.mit.edu 37 10 126662251 126662251 + Silent SNP A A G TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr10:126662251A>G ENST00000359653.4 + 4 1565 c.1194A>G c.(1192-1194)ttA>ttG p.L398L NM_017580.2 NP_060050.2 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 398 TRAF-binding. positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 23 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) AAGAAAAATTATTTGATGAGG 0.303 4 207 --- --- --- --- ATM 472 broad.mit.edu 37 11 108218045 108218045 + Missense_Mutation SNP A A G TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr11:108218045A>G ENST00000278616.4 + 59 9009 c.8624A>G c.(8623-8625)aAt>aGt p.N2875S ATM_ENST00000452508.2_Missense_Mutation_p.N2875S|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2875 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.N2875T(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CATGTACAGAATATCTTGATA 0.303 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 61 5 --- --- --- --- VPS11 55823 broad.mit.edu 37 11 118949846 118949846 + Missense_Mutation SNP G G T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr11:118949846G>T ENST00000300793.6 + 15 2313 c.2271G>T c.(2269-2271)caG>caT p.Q757H VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 758 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) CAGTGGTGCAGACCCTGGCCC 0.552 21 4 --- --- --- --- SLC35F4 341880 broad.mit.edu 37 14 58030926 58030926 + Missense_Mutation SNP T T A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr14:58030926T>A ENST00000556826.1 - 8 1621 c.1385A>T c.(1384-1386)gAt>gTt p.D462V SLC35F4_ENST00000554729.1_Missense_Mutation_p.D339V|SLC35F4_ENST00000339762.6_Missense_Mutation_p.D498V NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ATCAGTCACATCATCCACATG 0.498 6 8 --- --- --- --- ATP10A 57194 broad.mit.edu 37 15 25959331 25959331 + Silent SNP T T G TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr15:25959331T>G ENST00000356865.6 - 10 1945 c.1834A>C c.(1834-1836)Agg>Cgg p.R612R NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 612 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGTGTGAACCTCCGCAGGAAG 0.597 20 24 --- --- --- --- SQRDL 58472 broad.mit.edu 37 15 45968418 45968418 + Silent SNP C C T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr15:45968418C>T ENST00000260324.7 + 6 1160 c.774C>T c.(772-774)aaC>aaT p.N258N SQRDL_ENST00000568606.1_Silent_p.N258N|RP11-96O20.4_ENST00000564080.1_Silent_p.N258N NM_021199.3 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 258 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) TCACTGTTAACTACAAGAAAA 0.458 49 65 --- --- --- --- ONECUT1 3175 broad.mit.edu 37 15 53080999 53080999 + Silent SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr15:53080999G>A ENST00000305901.5 - 1 1210 c.1083C>T c.(1081-1083)cgC>cgT p.R361R ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 361 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) GCGCGGACATGCGCTGGAACT 0.637 27 18 --- --- --- --- CLEC16A 23274 broad.mit.edu 37 16 11051757 11051757 + Missense_Mutation SNP T T G TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr16:11051757T>G ENST00000409790.1 + 2 429 c.199T>G c.(199-201)Tct>Gct p.S67A CLEC16A_ENST00000409552.3_Missense_Mutation_p.S67A NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 67 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AAATGACAGCTCTGTATTTGA 0.403 4 83 --- --- --- --- MYH4 4622 broad.mit.edu 37 17 10356590 10356590 + Missense_Mutation SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr17:10356590G>A ENST00000255381.2 - 24 3100 c.2990C>T c.(2989-2991)aCc>aTc p.T997I RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 997 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTTCTCCTTGGTCAGCTTAGC 0.478 8 181 --- --- --- --- FAM27L 284123 broad.mit.edu 37 17 21825425 21825425 + RNA SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr17:21825425G>A ENST00000426869.3 + 0 129 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) tcggggctccgaggctccggc 0.622 7 12 --- --- --- --- NLK 51701 broad.mit.edu 37 17 26488195 26488195 + Silent SNP C C T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr17:26488195C>T ENST00000407008.3 + 4 1372 c.654C>T c.(652-654)gtC>gtT p.V218V NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 218 Protein kinase. intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GATATGTTGTCACAGAATTGA 0.393 10 34 --- --- --- --- RHOT1 55288 broad.mit.edu 37 17 30529851 30529851 + Missense_Mutation SNP A A G TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr17:30529851A>G ENST00000358365.3 + 15 1491 c.1264A>G c.(1264-1266)Aat>Gat p.N422D RHOT1_ENST00000333942.6_Missense_Mutation_p.N422D|RHOT1_ENST00000545287.2_Missense_Mutation_p.N422D|RHOT1_ENST00000394692.2_Missense_Mutation_p.N422D|RHOT1_ENST00000583994.1_Missense_Mutation_p.N295D|RHOT1_ENST00000354266.3_Missense_Mutation_p.N401D|RHOT1_ENST00000581094.1_Missense_Mutation_p.N422D NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 422 Miro 2. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) GTTCAGATGTAATGTAATTGG 0.313 20 24 --- --- --- --- ARRDC5 645432 broad.mit.edu 37 19 4902803 4902803 + Missense_Mutation SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr19:4902803G>A ENST00000381781.2 - 1 76 c.77C>T c.(76-78)cCc>cTc p.P26L NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 26 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) TCTATCCTCGGGCAGCACTAA 0.552 38 54 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9064067 9064067 + Missense_Mutation SNP G G C TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr19:9064067G>C ENST00000397910.4 - 3 23582 c.23379C>G c.(23377-23379)gaC>gaG p.D7793E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7795 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGGAGATGAGTCAGCTAGGA 0.502 4 196 --- --- --- --- EMR2 30817 broad.mit.edu 37 19 14875289 14875289 + Missense_Mutation SNP T T A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr19:14875289T>A ENST00000315576.3 - 11 1491 c.1040A>T c.(1039-1041)aAc>aTc p.N347I EMR2_ENST00000601345.1_Missense_Mutation_p.N347I|EMR2_ENST00000596991.2_Missense_Mutation_p.N347I|EMR2_ENST00000353876.1_Missense_Mutation_p.N254I|EMR2_ENST00000594294.1_Missense_Mutation_p.N298I|EMR2_ENST00000392967.2_Missense_Mutation_p.N347I|EMR2_ENST00000392964.3_Missense_Mutation_p.N86I|EMR2_ENST00000392965.3_Missense_Mutation_p.N347I|EMR2_ENST00000346057.1_Missense_Mutation_p.N298I|EMR2_ENST00000594076.1_Missense_Mutation_p.N254I|EMR2_ENST00000353005.1_Missense_Mutation_p.N205I|EMR2_ENST00000595839.1_Missense_Mutation_p.N205I NM_013447.3 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 347 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 ATTGGAAAGGTTCTTGCTCAG 0.587 13 12 --- --- --- --- CHMP4B 128866 broad.mit.edu 37 20 32441333 32441333 + Missense_Mutation SNP G G C TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr20:32441333G>C ENST00000217402.2 + 5 807 c.642G>C c.(640-642)atG>atC p.M214I NM_176812.4 NP_789782.1 Q9H444 CHM4B_HUMAN charged multivesicular body protein 4B 214 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 ACGACGACATGAAGGAATTGG 0.557 15 11 --- --- --- --- RBP1 5947 broad.mit.edu 37 3 139258317 139258318 + Frame_Shift_Del DEL AC AC - TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr3:139258317_139258318delAC ENST00000483943.2 - 1 243_244 c.243_244delGT c.(241-246)gagtacfs p.Y82fs RBP1_ENST00000232219.2_Frame_Shift_Del_p.Y82fs|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Frame_Shift_Del_p.Y82fs NM_001130993.1 NP_001124465.1 P09455 RET1_HUMAN retinol binding protein 1, cellular 20 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 5 Vitamin A(DB00162) GCGCGCAGGTACTCCTCGAAAT 0.673 11 2 --- --- --- --- ANK3 288 broad.mit.edu 37 10 62038573 62038574 + Frame_Shift_Ins INS - - T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr10:62038573_62038574insT ENST00000280772.2 - 4 563_564 c.372_373insA c.(370-375)aaagtcfs p.V125fs ANK3_ENST00000503366.1_Frame_Shift_Ins_p.V108fs|ANK3_ENST00000373827.2_Frame_Shift_Ins_p.V119fs NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTAACCAAGACTTTTACCACCT 0.396 86 79 --- --- --- --- TRAV26-2 28656 broad.mit.edu 37 14 22670555 22670567 + RNA DEL TAATGACAAAAGA TAATGACAAAAGA - TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr14:22670555_22670567delTAATGACAAAAGA ENST00000390460.1 + 0 40 GTTTTGTGGCTAATGACAAAAGAGAGTTATCTG 0.404 8 5 --- --- --- ---