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 ATP13A4 84239 broad.mit.edu 37 3 193183888 193183888 + Silent SNP T T G TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr3:193183888T>G ENST00000342695.4 - 11 1520 c.1198A>C c.(1198-1200)Agg>Cgg p.R400R ATP13A4_ENST00000392443.3_Silent_p.R400R|ATP13A4_ENST00000295548.3_Silent_p.R400R NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 400 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) AGGAGGAACCTGATGGCATCC 0.448000 32 119 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1045143 1045143 + Missense_Mutation SNP C C T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr19:1045143C>T ENST00000263094.6 + 12 1589 c.1358C>T c.(1357-1359)cCa>cTa p.P453L ABCA7_ENST00000435683.2_Missense_Mutation_p.P315L|ABCA7_ENST00000433129.1_Missense_Mutation_p.P453L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 453 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACAGAGCACCCAACCCCAGAC 0.627000 23 66 0 0 1 0 0 SYT13 57586 broad.mit.edu 37 11 45265636 45265636 + Silent SNP C C T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr11:45265636C>T ENST00000020926.3 - 6 1359 c.1248G>A c.(1246-1248)cgG>cgA p.R416R NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 416 transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 TGGCAATCTGCCGGCGAGGGT 0.632000 3 61 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94603368 94603368 + Missense_Mutation SNP G G T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr12:94603368G>T ENST00000258526.4 + 5 1691 c.1442G>T c.(1441-1443)tGc>tTc p.C481F NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 481 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TTTTTTAGGTGCACTTTTCAA 0.393000 4 142 0.000602214 0.000646279 1 1 0 ESR2 0 broad.mit.edu 37 14 64701762 64701762 + Silent SNP G G A rs144392940 TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr14:64701762G>A ENST00000557772.1 - 7 1331 c.1332C>T c.(1330-1332)agC>agT p.S444S ESR2_ENST00000353772.3_Silent_p.S444S|ESR2_ENST00000341099.4_Silent_p.S444S|ESR2_ENST00000555278.1_Silent_p.S444S|ESR2_ENST00000267525.6_Silent_p.S353S|ESR2_ENST00000554572.1_Silent_p.S444S|ESR2_ENST00000553796.1_Silent_p.S444S|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Silent_p.S444S|ESR2_ENST00000358599.5_Silent_p.S444S|ESR2_ENST00000357782.2_Silent_p.S444S NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 444 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) AGGAGATGCCGCTCTTGGCAA 0.612000 5 54 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940877 22940877 + Missense_Mutation SNP G G T rs74455660 TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr19:22940877G>T ENST00000397104.3 - 5 1560 c.1561C>A c.(1561-1563)Cag>Aag p.Q521K ZNF99_ENST00000596209.1_Missense_Mutation_p.Q612K zinc finger protein 99 p.Q521K(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGAATTATCTGATGTTTTCTA 0.378000 3 37 0.00909568 0.00952881 1 1 0 FAM89A 375061 broad.mit.edu 37 1 231155679 231155679 + Missense_Mutation SNP C C T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr1:231155679C>T ENST00000366654.4 - 2 519 c.485G>A c.(484-486)gGc>gAc p.G162D FAM89A_ENST00000494111.1_5'UTR NM_198552.2 NP_940954.1 Q96GI7 FA89A_HUMAN family with sequence similarity 89, member A 162 endometrium(1)|upper_aerodigestive_tract(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) CCGAGGAGGGCCTCGGTCCCT 0.577000 13 16 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5781751 5781751 + Missense_Mutation SNP C C G TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr10:5781751C>G ENST00000328090.5 + 13 2243 c.1618C>G c.(1618-1620)Cta>Gta p.L540V RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 540 GTTAGCCGATCTAGCATTAAG 0.418000 29 77 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12721809 12721809 + Nonsense_Mutation SNP C C G TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr1:12721809C>G ENST00000376221.1 + 3 393 c.393C>G c.(391-393)taC>taG p.Y131* NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 131 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) CAGATTGTTACCATGGCCTGT 0.527000 11 86 0 0 1 0 0 IGHV3-23 0 broad.mit.edu 37 14 106725617 106725617 + RNA SNP A A G TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr14:106725617A>G ENST00000390609.2 - 0 116 ACCTTTTAAAATAGCCACAAG 0.428000 25 119 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90349645 90349645 + Missense_Mutation SNP G G A TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr15:90349645G>A ENST00000300060.6 - 2 483 c.170C>T c.(169-171)aCc>aTc p.T57I NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 57 Cytosolic Ser/Thr-rich junction. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GGCGGGGTTGGTGGTGGCTGA 0.607000 5 102 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 80 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51617164 51617164 + Missense_Mutation SNP G G A TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr8:51617164G>A ENST00000522124.1 + 16 1704 c.1043G>A c.(1042-1044)aGt>aAt p.S348N SNTG1_ENST00000518864.1_Missense_Mutation_p.S348N|SNTG1_ENST00000517473.1_Missense_Mutation_p.S348N|SNTG1_ENST00000276467.5_Missense_Mutation_p.S348N NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 348 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CACCAGGACAGTGACCTGCTG 0.557000 4 76 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 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) TCTTAACTTACTGTTGTGAAA 0.418000 4 63 0 0 1 0 0 CIDEC 63924 broad.mit.edu 37 3 9911609 9911609 + Missense_Mutation SNP G G A TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr3:9911609G>A ENST00000336832.2 - 5 650 c.511C>T c.(511-513)Ctt>Ttt p.L171F CIDEC_ENST00000430427.1_Missense_Mutation_p.L181F|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.L97F|CIDEC_ENST00000455015.1_Missense_Mutation_p.L97F|CIDEC_ENST00000383817.1_Intron NM_001199552.1|NM_001199623.1|NM_022094.3 NP_001186481.1|NP_001186552.1|NP_071377.2 Q96AQ7 CIDEC_HUMAN cell death-inducing DFFA-like effector c 171 apoptosis|induction of apoptosis cytosol|focal adhesion|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 8 Medulloblastoma(99;0.227) TCATAGGAAAGGGAGTATGTA 0.512000 3 45 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74526917 74526917 + Missense_Mutation SNP G G A TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr16:74526917G>A ENST00000422840.2 - 7 1171 c.1172C>T c.(1171-1173)cCg>cTg p.P391L GLG1_ENST00000205061.5_Missense_Mutation_p.P391L|GLG1_ENST00000447066.2_Missense_Mutation_p.P380L NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 391 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 ACGCGATCGCGGAAGGTTTTC 0.413000 3 49 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39225734 39225734 + Missense_Mutation SNP G G T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr3:39225734G>T ENST00000340369.3 - 2 5431 c.5203C>A c.(5203-5205)Cct>Act p.P1735T XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P418T NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1735 Interaction with FLNC. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GCTGAGGGAGGGGCAGGTTCA 0.587000 6 94 0.0215528 0.022054 1 1 0 L1CAM 3897 broad.mit.edu 37 X 153130847 153130847 + Missense_Mutation SNP G G A TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chrX:153130847G>A ENST00000370060.1 - 21 2845 c.2656C>T c.(2656-2658)Cgg>Tgg p.R886W L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 886 Fibronectin type-III 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.R886W(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTATAGGGCCGCAAGCCACTG 0.612000 3 58 0 0 1 0 0 C4orf29 80167 broad.mit.edu 37 4 128930134 128930134 + Missense_Mutation SNP T T G TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr4:128930134T>G ENST00000388795.5 + 5 495 c.92T>G c.(91-93)cTt>cGt p.L31R C4orf29_ENST00000398965.1_Missense_Mutation_p.L113R|C4orf29_ENST00000444616.1_Missense_Mutation_p.L113R Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 113 extracellular region breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 TGCATTCATCTTGCTGGAACA 0.299000 11 26 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160225011 160225011 + Missense_Mutation SNP C C T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr6:160225011C>T ENST00000275275.5 + 5 401 c.230C>T c.(229-231)tCt>tTt p.S77F PNLDC1_ENST00000392167.3_Missense_Mutation_p.S88F NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 77 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ATAGCCCATTCTTGTAACTTC 0.418000 43 69 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32526726 32526726 + Missense_Mutation SNP C C T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr21:32526726C>T ENST00000286827.3 - 18 3481 c.3010G>A c.(3010-3012)Gca>Aca p.A1004T TIAM1_ENST00000541036.1_Missense_Mutation_p.A944T NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1004 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CGGCAAAATGCGGCCACCTGT 0.582000 3 60 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60520927 60520927 + Missense_Mutation SNP G G C TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr1:60520927G>C ENST00000371201.3 - 3 398 c.291C>G c.(289-291)aaC>aaG p.N97K C1orf87_ENST00000450089.2_Missense_Mutation_p.N97K NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 97 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GTTTCTGGTTGTTTTCTGATT 0.393000 50 145 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212530061 212530061 + Missense_Mutation SNP T T C TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr2:212530061T>C ENST00000342788.4 - 15 2168 c.1858A>G c.(1858-1860)Aac>Gac p.N620D ERBB4_ENST00000436443.1_Missense_Mutation_p.N620D|ERBB4_ENST00000402597.1_Missense_Mutation_p.N620D NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 620 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TGGGTGCAGTTTGGATGGCAT 0.478000 TSP Lung(8;0.080) 21 51 0 0 1 0 0 IGSF6 10261 broad.mit.edu 37 16 21658767 21658767 + Silent SNP T T C TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr16:21658767T>C ENST00000268389.4 - 2 175 c.114A>G c.(112-114)ctA>ctG p.L38L METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron NM_005849.3 NP_005840.2 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 38 Ig-like C2-type. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(48;0.066) AGTCCACTTCTAGGTACCACG 0.552000 11 38 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628261 29628261 + Missense_Mutation SNP T T C rs111331725 by1000genomes TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr20:29628261T>C ENST00000278882.3 + 6 643 c.263T>C c.(262-264)tTt>tCt p.F88S FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S|FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATAGCTGCTTTATTAGATGC 0.363000 10 87 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7169982 7169982 + Missense_Mutation SNP T T C TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr12:7169982T>C ENST00000406697.1 + 6 837 c.209T>C c.(208-210)gTg>gCg p.V70A C1S_ENST00000328916.3_Missense_Mutation_p.V70A|C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Missense_Mutation_p.V70A P09871 C1S_HUMAN complement component 1, s subcomponent 70 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TATGACTCAGTGCAGGTATGT 0.463000 31 41 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55361659 55361659 + Missense_Mutation SNP A A T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr12:55361659A>T ENST00000449076.1 - 4 356 c.224T>A c.(223-225)tTt>tAt p.F75Y TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.F75Y|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR NM_001136030.2 NP_001129502.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 75 TTCCTCAGAAAATCCTTCTTC 0.373000 11 27 0 0 1 0 0 BLCAP 10904 broad.mit.edu 37 20 36147327 36147327 + Missense_Mutation SNP C C T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr20:36147327C>T ENST00000414542.2 - 3 697 c.250G>A c.(250-252)Gtt>Att p.V84I BLCAP_ENST00000397135.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397131.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397137.1_Missense_Mutation_p.V84I|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000373537.2_Missense_Mutation_p.V84I|BLCAP_ENST00000397134.1_Missense_Mutation_p.V84I NM_001167820.1|NM_001167823.1 NP_001161292.1|NP_001161295.1 P62952 BLCAP_HUMAN bladder cancer associated protein 84 apoptosis|cell cycle integral to membrane breast(1)|large_intestine(1)|lung(2)|stomach(1) 5 Myeloproliferative disorder(115;0.00878) GTGCCCACAACGCCGGGATCA 0.547000 14 34 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098827 11098827 + RNA SNP C C T rs79274499 by1000genomes TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr21:11098827C>T ENST00000470054.1 - 0 98 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) ccatccagagcgagacgagcc 0.637000 8 30 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86327179 86327179 + Missense_Mutation SNP G G T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr2:86327179G>T ENST00000263857.6 - 2 572 c.194C>A c.(193-195)tCc>tAc p.S65Y POLR1A_ENST00000409681.1_Missense_Mutation_p.S65Y O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 65 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CACGCAGGTGGAGCACACCTC 0.557000 3 39 0.115264 0.115264 1 1 0 OTOGL 283310 broad.mit.edu 37 12 80647288 80647288 + Missense_Mutation SNP G G T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr12:80647288G>T ENST00000458043.2 + 13 1307 c.1301G>T c.(1300-1302)tGc>tTc p.C434F OTOGL_ENST00000547103.1_Missense_Mutation_p.C434F NM_173591.3 NP_775862.3 otogelin-like p.C434F(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTGGAAAATTGCCCATGCGGT 0.353000 11 39 5.50884e-06 6.2151e-06 1 1 0 SLC22A9 114571 broad.mit.edu 37 11 63137888 63137888 + Missense_Mutation SNP G G T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr11:63137888G>T ENST00000279178.3 + 1 609 c.360G>T c.(358-360)tgG>tgT p.W120C SLC22A9_ENST00000310969.4_Missense_Mutation_p.W120C NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 120 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TGGATGGCTGGGTGTATGACA 0.507000 15 57 2.23348e-06 2.58614e-06 1 1 0 MPP2 4355 broad.mit.edu 37 17 41958703 41958703 + Missense_Mutation SNP T T A TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr17:41958703T>A ENST00000269095.4 - 8 1132 c.828A>T c.(826-828)gaA>gaT p.E276D MPP2_ENST00000536246.1_Missense_Mutation_p.E265D|MPP2_ENST00000523501.1_Missense_Mutation_p.E265D|MPP2_ENST00000518766.1_Missense_Mutation_p.E321D|MPP2_ENST00000461854.1_Missense_Mutation_p.E300D|MPP2_ENST00000377184.3_Missense_Mutation_p.E293D|MPP2_ENST00000520305.1_Missense_Mutation_p.E137D NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 300 SH3. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CACTGCCCCCTTCGACATGGC 0.582000 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 46 0 0 1 0 0 NOL9 79707 broad.mit.edu 37 1 6592683 6592683 + Nonsense_Mutation SNP T T A TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr1:6592683T>A ENST00000377705.5 - 8 1407 c.1375A>T c.(1375-1377)Aaa>Taa p.K459* NM_024654.4 NP_078930.3 Q5SY16 NOL9_HUMAN nucleolar protein 9 459 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) GTCTTGCTTTTTGTGTACAAG 0.463000 8 119 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55405907 55405907 + Missense_Mutation SNP G G C TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr11:55405907G>C ENST00000314612.2 + 1 74 c.74G>C c.(73-75)tGc>tCc p.C25S NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 GAAGTCCTCTGCTTTGTATTA 0.353000 3 56 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226924876 226924884 + In_Frame_Del DEL CTGCCGCTG CTGCCGCTG - rs11278152 TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr1:226924876_226924884delCTGCCGCTG ENST00000429204.1 - 2 603_611 c.276_284delCAGCGGCAG c.(274-285)agt>ag p.SSGS92del ITPKB_ENST00000272117.3_In_Frame_Del_p.SSGS92del|ITPKB_ENST00000366784.1_In_Frame_Del_p.SSGS92del NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 92 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GCTCACgctactgccgctgctgccgctgc 0.746 4 2 --- --- --- --- RANBP9 10048 broad.mit.edu 37 6 13711707 13711709 + In_Frame_Del DEL GCG GCG - TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr6:13711707_13711709delGCG ENST00000011619.3 - 1 87_89 c.29_31delCGC c.(28-33)cag>c p.PQ10del NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) tgctgctgctgcggcggcggcgg 0.764 4 6 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151864240 151864249 + Frame_Shift_Del DEL CTGTTTCTGA CTGTTTCTGA - TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr7:151864240_151864249delCTGTTTCTGA ENST00000355193.2 - 42 9950_9959 c.9732_9741delTCAGAAACAG c.(9730-9741)gtfs p.VQKQ3244fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.VQKQ3244fs lysine (K)-specific methyltransferase 2C CCTGTTCTAGCTGTTTCTGAACCATGCTTT 0.386 8 89 --- --- --- --- ZNF7 7553 broad.mit.edu 37 8 146068408 146068409 + Frame_Shift_Ins INS - - T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr8:146068408_146068409insT ENST00000528372.1 + 5 2156_2157 c.1916_1917insT c.(1915-1917)tgafs p.*639fs ZNF7_ENST00000325241.6_Frame_Shift_Ins_p.*639fs|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Frame_Shift_Ins_p.*543fs|ZNF7_ENST00000446747.2_Frame_Shift_Ins_p.*650fs|ZNF7_ENST00000525266.1_Intron P17097 ZNF7_HUMAN zinc finger protein 7 639 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) TGTGAAGACTGTGAGAAGATAT 0.426 12 112 --- --- --- --- ABO 28 broad.mit.edu 37 9 136131057 136131057 + RNA DEL G G - rs8176750 TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr9:136131057delG ENST00000453660.2 - 0 1071 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding p.P353fs?(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) AGCCGCTCACGGGTTCCGGAC 0.662 7 2 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 9 45 --- --- --- ---