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 WBSCR22 114049 broad.mit.edu 37 7 73112192 73112192 + Silent SNP C C G TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr7:73112192C>G ENST00000265758.2 + 12 880 c.822C>G c.(820-822)ggC>ggG p.G274G WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Silent_p.G291G NM_017528.4 NP_059998.2 O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 274 nucleus methyltransferase activity autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1) 13 Lung NSC(55;0.0908)|all_lung(88;0.198) AGTACACCGGCCGCAAGCGCA 0.478000 10 53 0 0 1 0 0 SMAD9 4093 broad.mit.edu 37 13 37427659 37427659 + Missense_Mutation SNP T T C TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr13:37427659T>C ENST00000379826.4 - 6 1499 c.1157A>G c.(1156-1158)aAc>aGc p.N386S SMAD9_ENST00000350148.5_Missense_Mutation_p.N349S|SMAD9_ENST00000399275.2_Missense_Mutation_p.N386S NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 386 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) GAGCTGGTTGTTGAAGACCTT 0.532000 7 44 0 0 1 0 0 ARID3A 1820 broad.mit.edu 37 19 964321 964321 + Silent SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr19:964321G>A ENST00000263620.3 + 5 1167 c.840G>A c.(838-840)acG>acA p.T280T NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 280 ARID. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 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) TGCTGGTGACGGAGAAGGGCG 0.607000 3 73 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3299469 3299469 + Missense_Mutation SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr16:3299469G>A ENST00000219596.1 - 3 1261 c.1222C>T c.(1222-1224)Cgg>Tgg p.R408W MEFV_ENST00000339854.4_Missense_Mutation_p.R228W|MEFV_ENST00000536379.1_Missense_Mutation_p.R197W|MEFV_ENST00000541159.1_Missense_Mutation_p.R197W NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 408 R -> Q (in arFMF; associated with Q-148 and S-369 in cis; could be a polymorphism; dbSNP:rs11466024). inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GGGCGCACCCGGTGGCCTTGG 0.602000 30 59 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52412685 52412685 + Silent SNP C C A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr3:52412685C>A ENST00000420323.2 + 47 7527 c.7266C>A c.(7264-7266)acC>acA p.T2422T NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2422 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGTATGCAACCATCACCTCCC 0.602000 74 194 2.28164e-27 2.58299e-27 1 1 0 FEM1A 55527 broad.mit.edu 37 19 4792557 4792557 + Missense_Mutation SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr19:4792557G>A ENST00000269856.3 + 1 830 c.691G>A c.(691-693)Gtg>Atg p.V231M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 231 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CACCAACATCGTGGAGTACCT 0.687000 3 88 0 0 1 0 0 NUP37 79023 broad.mit.edu 37 12 102470594 102470594 + Missense_Mutation SNP C C G TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr12:102470594C>G ENST00000552283.1 - 8 893 c.754G>C c.(754-756)Gat>Cat p.D252H NUP37_ENST00000251074.1_Missense_Mutation_p.D252H Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 252 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 CAGGCTCGATCCATGTGAACA 0.363000 6 27 0 0 1 0 0 WSB1 26118 broad.mit.edu 37 17 25639358 25639358 + Missense_Mutation SNP C C T TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr17:25639358C>T ENST00000262394.2 + 9 1545 c.1229C>T c.(1228-1230)cCt>cTt p.P410L WSB1_ENST00000348811.2_Missense_Mutation_p.P264L NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 410 SOCS box. intracellular signal transduction intracellular protein binding lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) CTGCCGATTCCTTCCAAGCTT 0.473000 5 271 0 0 1 0 0 PDPN 10630 broad.mit.edu 37 1 13940850 13940850 + Silent SNP C C T TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr1:13940850C>T ENST00000294489.6 + 5 995 c.654C>T c.(652-654)atC>atT p.I218I PDPN_ENST00000487038.1_Silent_p.I100I|PDPN_ENST00000376061.4_Silent_p.I100I|PDPN_ENST00000513143.1_Silent_p.I100I|PDPN_ENST00000376057.4_Silent_p.I218I|PDPN_ENST00000509009.1_Silent_p.I137I|PDPN_ENST00000475043.1_Silent_p.I100I Q86YL7 PDPN_HUMAN podoplanin 142 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) TACTAGCCATCGGCTTCATTG 0.433000 34 68 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8824763 8824763 + Silent SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr18:8824763G>A ENST00000359865.3 + 15 3397 c.3255G>A c.(3253-3255)gaG>gaA p.E1085E SOGA2_ENST00000306285.7_Silent_p.E410E|SOGA2_ENST00000517570.1_Silent_p.E1044E|SOGA2_ENST00000306329.11_Silent_p.E1404E|SOGA2_ENST00000400050.3_Silent_p.E1044E|SOGA2_ENST00000518815.1_Silent_p.E410E NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1395 TCCTGCCTGAGAAGGGCCTGC 0.572000 23 57 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228159772 228159772 + Missense_Mutation SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr2:228159772G>A ENST00000396578.3 + 40 3673 c.3511G>A c.(3511-3513)Gaa>Aaa p.E1171K AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1171 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AGAAAAGGGAGAAACGGGTAC 0.418000 3 64 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150947501 150947501 + Missense_Mutation SNP A A C TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr5:150947501A>C ENST00000261800.5 - 1 1004 c.992T>G c.(991-993)cTc>cGc p.L331R NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 331 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGGAGGCTGAGGTTGAACCC 0.493000 5 230 0 0 1 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806516 6806516 + Missense_Mutation SNP C C T TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr11:6806516C>T ENST00000307401.4 + 1 269 c.248C>T c.(247-249)gCg>gTg p.A83V NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AAGGCCCTTGCGGACTTTCTG 0.572000 11 80 0 0 1 0 0 TMC8 147138 broad.mit.edu 37 17 76128481 76128481 + Missense_Mutation SNP C C G TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr17:76128481C>G ENST00000318430.5 + 4 714 c.340C>G c.(340-342)Cgc>Ggc p.R114G TMC6_ENST00000322914.3_5'UTR|TMC8_ENST00000589691.1_5'UTR NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 114 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) CACCTTCCTCCGCTTCCTGCT 0.687000 11 32 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42874546 42874546 + Missense_Mutation SNP C C T TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr13:42874546C>T ENST00000025301.2 + 8 1839 c.1664C>T c.(1663-1665)gCa>gTa p.A555V NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 555 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AAATTTGCAGCAGATCTTGTG 0.303000 9 32 0 0 1 0 0 ZNF549 256051 broad.mit.edu 37 19 58050081 58050081 + Missense_Mutation SNP C C T TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr19:58050081C>T ENST00000376233.3 + 4 1890 c.1709C>T c.(1708-1710)aCc>aTc p.T570I ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.T557I|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron NM_001199295.1 NP_001186224.1 Q6P9A3 ZN549_HUMAN zinc finger protein 549 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGACACCGCACCAGCCTCATT 0.453000 8 43 0 0 1 0 0 MOSPD3 64598 broad.mit.edu 37 7 100210601 100210601 + Missense_Mutation SNP A A T rs143182268 TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr7:100210601A>T ENST00000393950.2 + 1 469 c.187A>T c.(187-189)Act>Tct p.T63S MOSPD3_ENST00000379527.2_Missense_Mutation_p.T63S|MOSPD3_ENST00000223054.4_Missense_Mutation_p.T63S|MOSPD3_ENST00000424091.2_Missense_Mutation_p.T63S NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 63 MSP. integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCCCACAGGAACTGCGCTTCG 0.637000 43 130 0 0 1 0 0 VGLL3 389136 broad.mit.edu 37 3 87027942 87027942 + Missense_Mutation SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr3:87027942G>A ENST00000398399.2 - 2 500 c.137C>T c.(136-138)gCg>gTg p.A46V VGLL3_ENST00000383698.3_Missense_Mutation_p.A46V NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGAATACCGCTAACTTCTT 0.428000 3 76 0 0 1 0 0 USP30 84749 broad.mit.edu 37 12 109519153 109519153 + Missense_Mutation SNP T T G TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr12:109519153T>G ENST00000257548.5 + 8 828 c.735T>G c.(733-735)ttT>ttG p.F245L USP30_ENST00000392784.2_Missense_Mutation_p.F214L NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 245 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 CTGTTCGATTTGATACCTTTG 0.353000 33 75 0 0 1 0 0 HNRNPA0 10949 broad.mit.edu 37 5 137089391 137089391 + Missense_Mutation SNP C C A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr5:137089391C>A ENST00000314940.4 - 1 648 c.365G>T c.(364-366)gGc>gTc p.G122V NM_006805.3 NP_006796.1 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 122 RRM 2. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTCCACGGTGCCAAACTGCGA 0.587000 3 82 0.184627 0.184627 1 1 0 NSD1 64324 broad.mit.edu 37 5 176720972 176720972 + Silent SNP T T A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr5:176720972T>A ENST00000439151.2 + 23 6648 c.6603T>A c.(6601-6603)tcT>tcA p.S2201S NSD1_ENST00000361032.4_Silent_p.S2098S|NSD1_ENST00000354179.4_Silent_p.S1932S|NSD1_ENST00000347982.4_Silent_p.S1932S NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2201 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGCGTCTGTCTTGTACTGAGC 0.567000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 35 51 0 0 1 0 0 PSME3 10197 broad.mit.edu 37 17 40986805 40986805 + Missense_Mutation SNP T T G TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr17:40986805T>G ENST00000293362.3 + 4 316 c.155T>G c.(154-156)aTc>aGc p.I52S PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000545225.1_De_novo_Start_InFrame|PSME3_ENST00000590720.1_Missense_Mutation_p.I52S|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000441946.2_Missense_Mutation_p.I63S NM_005789.3|NM_176863.2 NP_005780.2|NP_789839.1 P61289 PSME3_HUMAN proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) 52 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome activator complex endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding NS(1)|cervix(1)|large_intestine(3)|lung(1) 6 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) ATCTTAAACATCCATGACCTA 0.418000 25 82 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17085193 17085193 + RNA SNP C C T TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr1:17085193C>T ENST00000455405.2 - 0 83 GGATTGATGGCGGCTGGTCAT 0.577000 3 30 0 0 1 0 0 GPD1 2819 broad.mit.edu 37 12 50498486 50498486 + Silent SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr12:50498486G>A ENST00000301149.3 + 2 403 c.171G>A c.(169-171)caG>caA p.Q57Q GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Silent_p.Q57Q NM_001257199.1|NM_005276.3 NP_001244128.1|NP_005267.2 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 57 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) TCAACACGCAGCATGAGAATG 0.547000 5 260 0 0 1 0 0 PDCL 5082 broad.mit.edu 37 9 125582653 125582653 + Missense_Mutation SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr9:125582653G>A ENST00000259467.4 - 4 782 c.617C>T c.(616-618)gCc>gTc p.A206V NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 206 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 GTACTCTGCGGCAAGGCAGAT 0.478000 3 37 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108218046 108218046 + Missense_Mutation SNP T T A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr11:108218046T>A ENST00000278616.4 + 59 9010 c.8625T>A c.(8623-8625)aaT>aaA p.N2875K ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.N2875K|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron NM_000051.3 NP_000042.3 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 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) ATGTACAGAATATCTTGATAA 0.303000 """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) 21 60 0 0 1 0 0 ARMC10 83787 broad.mit.edu 37 7 102727086 102727086 + Missense_Mutation SNP C C T TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr7:102727086C>T ENST00000323716.3 + 4 795 c.403C>T c.(403-405)Cgt>Tgt p.R135C ARMC10_ENST00000454559.1_Missense_Mutation_p.R100C|ARMC10_ENST00000541300.1_Missense_Mutation_p.R100C|ARMC10_ENST00000441711.2_Missense_Mutation_p.R100C|ARMC10_ENST00000425331.1_Missense_Mutation_p.R100C|ARMC10_ENST00000428183.2_Missense_Mutation_p.R135C NM_031905.4 NP_114111.2 Q8N2F6 ARM10_HUMAN armadillo repeat containing 10 135 regulation of growth endoplasmic reticulum membrane|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 GGCTATTATTCGTGAATTGGG 0.358000 9 103 0 0 1 0 0 AC010203.1 0 broad.mit.edu 37 12 100551034 100551034 + RNA SNP C C G TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr12:100551034C>G ENST00000408843.1 - 0 82 GOLGA2B_ENST00000397112.4_RNA GATGTACTCTCCTGCAGGAGG 0.622000 36 64 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160114977 160114977 + Silent SNP T T C TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr5:160114977T>C ENST00000327245.5 - 5 951 c.105A>G c.(103-105)aaA>aaG p.K35K CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 35 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTGTCTCCCTTTCTCTGGAG 0.552000 3 158 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104165237 104165237 + Missense_Mutation SNP A A G TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr10:104165237A>G ENST00000020673.5 - 12 2718 c.2192T>C c.(2191-2193)gTc>gCc p.V731A PSD_ENST00000406432.1_Missense_Mutation_p.V731A NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 731 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CCGCTTGATGACCTTGGGGTT 0.662000 29 45 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 3 55 0 0 1 0 0 OR51B4 79339 broad.mit.edu 37 11 5322889 5322889 + Silent SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr11:5322889G>A ENST00000380224.1 - 1 337 c.288C>T c.(286-288)ttC>ttT p.F96F HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGATTGGGTGAAACAGGCAG 0.507000 3 121 0 0 1 0 0 ZNF527 84503 broad.mit.edu 37 19 37880057 37880057 + Missense_Mutation SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr19:37880057G>A ENST00000436120.2 + 5 1213 c.1106G>A c.(1105-1107)cGt>cAt p.R369H ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCCTTTAGCCGTTATGCCTTC 0.433000 10 30 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65179168 65179168 + Missense_Mutation SNP G G T TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr18:65179168G>T ENST00000310045.7 - 2 4181 c.2708C>A c.(2707-2709)aCt>aAt p.T903N CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 893 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TTCCAACTCAGTTTCAGGAAT 0.418000 15 48 6.72482e-11 7.33617e-11 1 1 0 MFSD6 54842 broad.mit.edu 37 2 191354580 191354580 + Missense_Mutation SNP G G C TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr2:191354580G>C ENST00000392328.1 + 6 2203 c.1879G>C c.(1879-1881)Gat>Cat p.D627H MFSD6_ENST00000535751.1_Missense_Mutation_p.D89H|MFSD6_ENST00000281416.7_Missense_Mutation_p.D627H NM_017694.3 NP_060164.3 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 6 627 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 GGCAGTGCCAGATGAGGAAGA 0.478000 3 55 0 0 1 0 0 DNALI1 7802 broad.mit.edu 37 1 38022567 38022567 + Missense_Mutation SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr1:38022567G>A ENST00000296218.7 + 1 48 c.38G>A c.(37-39)aGc>aAc p.S13N NM_003462.3 NP_003453.2 O14645 IDLC_HUMAN dynein, axonemal, light intermediate chain 1 0 cellular component movement|single fertilization axonemal dynein complex microtubule motor activity breast(1)|kidney(1)|large_intestine(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGACAGGGCAGCTGCTGGGTT 0.647000 3 102 0 0 1 0 0 UBR7 55148 broad.mit.edu 37 14 93684961 93684961 + Silent SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr14:93684961G>A ENST00000013070.6 + 7 926 c.690G>A c.(688-690)gaG>gaA p.E230E UBR7_ENST00000416753.1_Silent_p.E154E NM_175748.3 NP_786924.2 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 7 (putative) 230 ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1) 19 AAAATGGAGAGCATCAAGATA 0.443000 3 126 0 0 1 0 0 MALAT1 0 broad.mit.edu 37 11 65271006 65271006 + RNA SNP C C G TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr11:65271006C>G ENST00000534336.1 + 0 5774 NR_002819.2 CTGTTAGAATCAGATGTTACT 0.303000 10 80 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 3 135 0 0 1 0 0 QSOX1 5768 broad.mit.edu 37 1 180165946 180165946 + Missense_Mutation SNP G G A rs144062716 TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr1:180165946G>A ENST00000367602.3 + 12 2092 c.2018G>A c.(2017-2019)cGc>cAc p.R673H QSOX1_ENST00000367600.5_Intron O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 673 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CGCGTGGGCCGCAGCTCCAAG 0.677000 3 69 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38830099 38830099 + Missense_Mutation SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr6:38830099G>A ENST00000359357.3 + 42 5778 c.5524G>A c.(5524-5526)Ggt>Agt p.G1842S DNAH8_ENST00000449981.2_Missense_Mutation_p.G2059S|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1842S dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GAACATGGGAGGTGCTCCCGC 0.473000 3 136 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr17:7577085C>T ENST00000420246.2 - 8 985 c.853G>A c.(853-855)Gag>Aag p.E285K TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTCTTCCTCTGTGCGCCGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 26 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19356217 19356217 + Silent SNP C C T TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr19:19356217C>T ENST00000252575.5 + 13 3631 c.3588C>T c.(3586-3588)aaC>aaT p.N1196N NCAN_ENST00000538881.1_Silent_p.N647N NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1196 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GGCGCTGGAACGATGTCCCCT 0.552000 30 64 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12946524 12946524 + Missense_Mutation SNP G G T TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr11:12946524G>T ENST00000361905.4 + 11 1559 c.894G>T c.(892-894)gaG>gaT p.E298D TEAD1_ENST00000527575.1_Missense_Mutation_p.E255D|TEAD1_ENST00000361985.2_Missense_Mutation_p.E313D|TEAD1_ENST00000334310.6_Missense_Mutation_p.E244D|TEAD1_ENST00000527636.1_Missense_Mutation_p.E313D|TEAD1_ENST00000526600.1_Missense_Mutation_p.E217D NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 313 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) GTCAGTACGAGAGTTCTGAAA 0.418000 13 89 9.05144e-12 1.00572e-11 1 1 0 HIST1H2AG 8969 broad.mit.edu 37 6 27101129 27101129 + Silent SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr6:27101129G>A ENST00000359193.2 + 1 298 c.279G>A c.(277-279)gaG>gaA p.E93E NM_021064.4 NP_066408.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 93 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 ACGACGAGGAGCTCAACAAGC 0.617000 4 204 0 0 1 0 0 CKMT2 1160 broad.mit.edu 37 5 80559388 80559388 + Missense_Mutation SNP G G A TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr5:80559388G>A ENST00000424301.2 + 10 1331 c.1093G>A c.(1093-1095)Gca>Aca p.A365T CKMT2_ENST00000254035.4_Missense_Mutation_p.A365T|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.A365T|CTC-281B15.1_ENST00000505295.1_RNA NM_001825.2 NP_001816.2 P17540 KCRS_HUMAN creatine kinase, mitochondrial 2 (sarcomeric) 365 Phosphagen kinase C-terminal. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1) 17 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) TGCCGCGGTCGCAGATGTGTA 0.463000 3 109 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389054 1389055 + Frame_Shift_Ins INS - - CA rs71299249 TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr4:1389054_1389055insCA ENST00000324803.4 + 1 3715_3716 c.755_756insCA c.(754-756)cacfs p.H252fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 252 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding p.C254fs*176(1) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCCGCCTGCTCACGTGCCGAT 0.693 7 889 --- --- --- --- KCTD16 57528 broad.mit.edu 37 5 143853531 143853531 + Frame_Shift_Del DEL A A - TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr5:143853531delA ENST00000507359.2 + 3 2232 c.1141delA c.(1141-1143)aafs p.K383fs KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 383 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CATGAGCAGCAAAAAAAAAGC 0.468 7 82 --- --- --- --- RNF145 153830 broad.mit.edu 37 5 158630642 158630642 + Frame_Shift_Del DEL T T - rs74770414 TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr5:158630642delT ENST00000274542.2 - 2 94 c.68delA c.(67-69)agfs p.K26fs RNF145_ENST00000424310.2_5'UTR|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs NM_144726.2 NP_653327.1 Q96MT1 RN145_HUMAN ring finger protein 145 0 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) tttttttttcttttttttttt 0.363 3 4 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 5 7 --- --- --- --- GRIN3B 116444 broad.mit.edu 37 19 1009551 1009577 + In_Frame_Del DEL GCCCCCGCGGAGGCCCCACCACACTCT GCCCCCGCGGAGGCCCCACCACACTCT - rs58448123 TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 74e478ae-4fd2-454f-a0d1-0d2d37527fb8 02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd g.chr19:1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT ENST00000234389.3 + 9 3101_3127 c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT c.(3082-3108)del p.APAEAPPHS1028del NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 1028 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GGCCAGAGCGGCCCCCGCGGAGGCCCCACCACACTCTGGCCGACCGG 0.692 4 5 --- --- --- ---