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 DCDC2B 149069 broad.mit.edu 37 1 32674910 32674910 + Silent SNP G G A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr1:32674910G>A ENST00000409358.1 + 1 216 c.216G>A c.(214-216)aaG>aaA p.K72K NM_001099434.1 NP_001092904.1 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 72 Doublecortin 1. intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CAGACTTGAAGAACAGAGGGC 0.582 22 53 --- --- --- --- RNF220 55182 broad.mit.edu 37 1 44877961 44877961 + Silent SNP C C T TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr1:44877961C>T ENST00000355387.2 + 2 642 c.192C>T c.(190-192)aaC>aaT p.N64N RNF220_ENST00000361799.2_Silent_p.N64N|RNF220_ENST00000372247.2_Silent_p.N64N Q5VTB9 RN220_HUMAN ring finger protein 220 64 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 CTTTCACCAACGGTTCCTATA 0.547 78 244 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10915197 10915197 + Splice_Site SNP T T A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr2:10915197T>A ENST00000381661.3 + 10 934 c.825T>A c.(823-825)taT>taA p.Y275* ATP6V1C2_ENST00000272238.4_Splice_Site_p.Y275* NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 275 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) AGCAACAGTATGTGAGTATGT 0.498 11 32 --- --- --- --- KRCC1 51315 broad.mit.edu 37 2 88327466 88327466 + Missense_Mutation SNP G G C TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr2:88327466G>C ENST00000347055.3 - 4 1010 c.617C>G c.(616-618)aCc>aGc p.T206S NM_016618.1 NP_057702.1 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 206 Lys-rich. cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 7 GACATGTACGGTTTCTATTTC 0.383 64 145 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 140995791 140995791 + Missense_Mutation SNP A A G TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr2:140995791A>G ENST00000389484.3 - 89 14461 c.13490T>C c.(13489-13491)aTg>aCg p.M4497T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4497 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TACCTCATACATGTTATAAGA 0.338 TSP Lung(27;0.18) 13 41 --- --- --- --- FARP2 9855 broad.mit.edu 37 2 242373670 242373670 + Missense_Mutation SNP T T G TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr2:242373670T>G ENST00000264042.3 + 10 1135 c.965T>G c.(964-966)cTt>cGt p.L322R FARP2_ENST00000545004.1_Missense_Mutation_p.L322R|FARP2_ENST00000373287.4_Missense_Mutation_p.L322R NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 322 FERM. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TTTTTTAGACTTTTGGACCAA 0.478 6 77 --- --- --- --- LRRC15 131578 broad.mit.edu 37 3 194080233 194080233 + Missense_Mutation SNP C C A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr3:194080233C>A ENST00000347624.3 - 2 1625 c.1540G>T c.(1540-1542)Gac>Tac p.D514Y LRRC15_ENST00000428839.1_Missense_Mutation_p.D520Y|LRRC15_ENST00000439944.2_Missense_Mutation_p.D520Y NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 514 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TCAGTGTAGTCTTCCACAGGG 0.557 12 32 --- --- --- --- NLN 57486 broad.mit.edu 37 5 65077143 65077143 + Silent SNP T T C TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr5:65077143T>C ENST00000380985.5 + 6 895 c.717T>C c.(715-717)taT>taC p.Y239Y NLN_ENST00000502464.1_Silent_p.Y135Y NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 239 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) ATGACAAGTATAAAATTACCT 0.338 12 52 --- --- --- --- H2AFV 94239 broad.mit.edu 37 7 44874154 44874154 + Missense_Mutation SNP G G C TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr7:44874154G>C ENST00000308153.4 - 5 424 c.333C>G c.(331-333)atC>atG p.I111M H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000521529.1_3'UTR|H2AFV_ENST00000350771.3_Missense_Mutation_p.I85M|H2AFV_ENST00000349299.3_Missense_Mutation_p.I73M|H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000381124.5_3'UTR NM_012412.4 NP_036544.1 Q71UI9 H2AV_HUMAN H2A histone family, member V 111 nucleosome assembly nucleosome|nucleus DNA binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 9 GGATGTGAGGGATCACACCTA 0.333 6 43 --- --- --- --- KIAA1324L 222223 broad.mit.edu 37 7 86537841 86537841 + Missense_Mutation SNP G G A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr7:86537841G>A ENST00000450689.2 - 17 2563 c.2378C>T c.(2377-2379)aCa>aTa p.T793I KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T553I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T626I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T722I NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 793 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) ATTTTTCAATGTGGTTTCAAC 0.303 22 34 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100685726 100685726 + Missense_Mutation SNP G G T TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr7:100685726G>T ENST00000306151.4 + 3 11093 c.11029G>T c.(11029-11031)Gtg>Ttg p.V3677L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3677 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TTCATCTCCTGTGACTCCTGA 0.517 43 94 --- --- --- --- SMU1 55234 broad.mit.edu 37 9 33057683 33057683 + Silent SNP A A G TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr9:33057683A>G ENST00000397149.3 - 7 830 c.780T>C c.(778-780)ttT>ttC p.F260F SMU1_ENST00000536631.1_Silent_p.F99F NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 260 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CCATCATCATAAAGTTATCTT 0.403 5 147 --- --- --- --- HSPA12A 259217 broad.mit.edu 37 10 118460629 118460629 + Missense_Mutation SNP C C T TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr10:118460629C>T ENST00000369209.3 - 4 370 c.266G>A c.(265-267)gGa>gAa p.G89E NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 89 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) AGGGTCACCTCCCTCCCATCG 0.527 17 48 --- --- --- --- SCYL1 57410 broad.mit.edu 37 11 65302785 65302785 + Nonsense_Mutation SNP G G T TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr11:65302785G>T ENST00000524944.1 + 10 1351 c.1318G>T c.(1318-1320)Gaa>Taa p.E440* SCYL1_ENST00000527009.1_Nonsense_Mutation_p.E297*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.E440*|SCYL1_ENST00000270176.5_Nonsense_Mutation_p.E440*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.E440* Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 440 regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 GGCCAAGGATGAACAGGGCCC 0.592 17 63 --- --- --- --- ATM 472 broad.mit.edu 37 11 108224576 108224576 + Missense_Mutation SNP G G A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr11:108224576G>A ENST00000278616.4 + 60 9140 c.8755G>A c.(8755-8757)Ggc>Agc p.G2919S C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G2919S|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2919 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) GGATGGCATGGGCATTACGGG 0.408 """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) 28 97 --- --- --- --- ATM 472 broad.mit.edu 37 11 108224578 108224578 + Silent SNP C C G TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr11:108224578C>G ENST00000278616.4 + 60 9142 c.8757C>G c.(8755-8757)ggC>ggG p.G2919G C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Silent_p.G2919G|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2919 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) ATGGCATGGGCATTACGGGTG 0.403 """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) 28 97 --- --- --- --- UNC79 57578 broad.mit.edu 37 14 94008906 94008906 + Missense_Mutation SNP T T A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr14:94008906T>A ENST00000553484.1 + 14 1773 c.1619T>A c.(1618-1620)aTg>aAg p.M540K UNC79_ENST00000256339.4_Missense_Mutation_p.M363K|UNC79_ENST00000555664.1_Missense_Mutation_p.M540K|UNC79_ENST00000393151.2_Missense_Mutation_p.M540K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 540 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ACTGCGTATATGATGGATGAT 0.512 14 107 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59186349 59186349 + Missense_Mutation SNP T T A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr15:59186349T>A ENST00000380516.2 - 11 1508 c.1421A>T c.(1420-1422)gAt>gTt p.D474V SLTM_ENST00000536328.1_Missense_Mutation_p.D43V NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 474 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ACTCTTTTCATCATTTTCTTT 0.284 8 22 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59186350 59186350 + Missense_Mutation SNP C C T TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr15:59186350C>T ENST00000380516.2 - 11 1507 c.1420G>A c.(1420-1422)Gat>Aat p.D474N SLTM_ENST00000536328.1_Missense_Mutation_p.D43N NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 474 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTCTTTTCATCATTTTCTTTC 0.284 8 21 --- --- --- --- ZNF319 57567 broad.mit.edu 37 16 58030795 58030795 + Missense_Mutation SNP G G A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr16:58030795G>A ENST00000299237.2 - 2 1997 c.1375C>T c.(1375-1377)Cgc>Tgc p.R459C NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 AGCGTGCAGCGCAGGGGCTTC 0.662 3 8 --- --- --- --- FBXW10 10517 broad.mit.edu 37 17 18651256 18651256 + Missense_Mutation SNP C C T TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr17:18651256C>T ENST00000308799.4 + 2 727 c.508C>T c.(508-510)Ctc>Ttc p.L170F FBXW10_ENST00000395667.1_Missense_Mutation_p.L170F|FBXW10_ENST00000395665.4_Missense_Mutation_p.L170F|FBXW10_ENST00000301938.4_Missense_Mutation_p.L170F Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 170 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 TGTTTCAGGGCTCAATCAAGA 0.443 7 63 --- --- --- --- GOSR1 9527 broad.mit.edu 37 17 28808252 28808252 + Missense_Mutation SNP T T A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr17:28808252T>A ENST00000225724.5 + 2 195 c.123T>A c.(121-123)agT>agA p.S41R GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000579905.1_3'UTR|GOSR1_ENST00000581721.1_Missense_Mutation_p.S41R|GOSR1_ENST00000451249.2_Missense_Mutation_p.S41R NM_001007024.1|NM_001007025.1|NM_004871.2 NP_001007025.1|NP_001007026.1|NP_004862.1 O95249 GOSR1_HUMAN golgi SNAP receptor complex member 1 41 intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|SNARE complex SNAP receptor activity endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 12 GTCATAGCAGTACCCGAGATG 0.373 23 82 --- --- --- --- SP2 6668 broad.mit.edu 37 17 46002397 46002397 + Silent SNP G G A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr17:46002397G>A ENST00000376741.4 + 5 1622 c.1485G>A c.(1483-1485)caG>caA p.Q495Q AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA NM_003110.5 NP_003101.3 Q02086 SP2_HUMAN Sp2 transcription factor 495 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 GAGAGACCCAGCCCGGGGAGA 0.602 13 39 --- --- --- --- LILRA6 79168 broad.mit.edu 37 19 54745451 54745451 + Splice_Site SNP C C A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr19:54745451C>A ENST00000440558.2 - 4 707 c.e4+1 LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Splice_Site|LILRA6_ENST00000245621.5_Splice_Site|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000396365.2_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGCTCCCTCACCTGAGGGCAG 0.572 14 41 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11039424 11039424 + RNA SNP T T A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr21:11039424T>A ENST00000470054.1 - 0 779 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) TCCAATTCGGTATTCACTGTA 0.279 4 110 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 25972970 25972979 + Frame_Shift_Del DEL ATCCTTTGGG ATCCTTTGGG - TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr2:25972970_25972979delATCCTTTGGG ENST00000435504.4 - 12 1739_1748 c.1446_1455delCCCAAAGGAT c.(1444-1455)tgcccaaaggatfs p.CPKD482fs ASXL2_ENST00000336112.4_Frame_Shift_Del_p.CPKD454fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.CPKD222fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.CPKD222fs Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 482 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGATCCTCATCCTTTGGGCACTTGATGG 0.481 29 110 --- --- --- --- GBA3 57733 broad.mit.edu 37 4 22737844 22737845 + RNA INS - - A TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30cbe211-6ed8-49bd-b2da-428fd8c90f37 55773b06-5d25-4338-a0b2-943b79062d10 g.chr4:22737844_22737845insA ENST00000511446.2 + 0 290 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AAGTGTTTCTTAAAAATAGAAG 0.396 7 78 --- --- --- ---