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 CD1C 911 broad.mit.edu 37 1 158259858 158259858 + 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.chr1:158259858C>A ENST00000368170.3 + 1 283 c.4C>A c.(4-6)Ctg>Atg p.L2M NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 2 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) AAATGACATGCTGTTTCTGCA 0.438000 20 46 5.26018e-13 5.6168e-13 1 1 0 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 ATM_ENST00000452508.2_Missense_Mutation_p.G2919S|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR NM_000051.3 NP_000042.3 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 0.408000 """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 0 0 1 0 0 FSCN2 25794 broad.mit.edu 37 17 79496148 79496148 + 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.chr17:79496148C>T ENST00000417245.2 + 1 727 c.591C>T c.(589-591)gaC>gaT p.D197D FSCN2_ENST00000334850.7_Silent_p.D197D NM_001077182.2|NM_012418.3 NP_001070650.1|NP_036550.1 O14926 FSCN2_HUMAN fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) 197 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging endometrium(1)|lung(1)|prostate(1)|urinary_tract(1) 4 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) TGCGCAGCGACGGCCGTCTGG 0.667000 3 7 0 0 1 0 0 ZFYVE19 84936 broad.mit.edu 37 15 41099524 41099524 + 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.chr15:41099524C>T ENST00000336455.5 + 1 93 c.38C>T c.(37-39)cCg>cTg p.P13L DNAJC17_ENST00000220496.4_Intron|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000355341.4_5'UTR|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.P13L NM_032850.4 NP_116239.3 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 0 zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) CAGGAAGGACCGCCAGACCTC 0.632000 9 21 0 0 1 0 0 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 0.338000 12 52 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65022215 65022215 + 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.chr16:65022215C>T ENST00000394156.3 - 7 1297 c.844G>A c.(844-846)Gtc>Atc p.V282I CDH11_ENST00000566827.1_Missense_Mutation_p.V156I|CDH11_ENST00000268603.4_Missense_Mutation_p.V282I P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 282 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TCCCCAGGGACGGCTGCTTCT 0.393000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 9 72 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184910915 184910915 + 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.chr3:184910915C>T ENST00000231887.3 - 7 1346 c.1271G>A c.(1270-1272)cGt>cAt p.R424H EHHADH_ENST00000456310.1_Missense_Mutation_p.R328H NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 424 3-hydroxyacyl-CoA dehydrogenase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) CAAGTGAGGACGATCAGTGGA 0.473000 19 60 0 0 1 0 0 ZNF319 0 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 0.662000 3 8 0 0 1 0 0 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 0.517000 43 94 6.21074e-16 6.8645e-16 1 1 0 ZBTB39 9880 broad.mit.edu 37 12 57398256 57398256 + 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.chr12:57398256G>A ENST00000300101.2 - 2 531 c.446C>T c.(445-447)tCg>tTg p.S149L NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 AGGTTCTGCCGAAGGACAACT 0.577000 11 74 0 0 1 0 0 NMU 10874 broad.mit.edu 37 4 56471442 56471442 + Splice_Site SNP G G A rs141279583 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.chr4:56471442G>A ENST00000264218.3 - 7 540 c.435_splice c.e7+1 p.D145_splice NMU_ENST00000505262.1_Splice_Site_p.D118_splice|NMU_ENST00000507338.1_Intron|NMU_ENST00000511469.1_Splice_Site_p.D129_splice|NMU_ENST00000515325.1_5'UTR NM_006681.2 NP_006672.1 P48645 NMU_HUMAN neuromedin U 145 neuropeptide signaling pathway extracellular region lung(3)|ovary(1)|urinary_tract(1) 5 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) TATTACATACGTCCACTCTGA 0.493000 8 46 0 0 1 0 0 UBXN2B 137886 broad.mit.edu 37 8 59359995 59359995 + 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.chr8:59359995C>T ENST00000399598.2 + 8 1003 c.881C>T c.(880-882)gCg>gTg p.A294V NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 294 UBX. cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 CCTGAATTTGCGGCTCTTGAC 0.348000 4 121 0 0 1 0 0 GPR4 2828 broad.mit.edu 37 19 46094786 46094786 + Silent 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.chr19:46094786C>A ENST00000323040.4 - 2 1283 c.339G>T c.(337-339)gtG>gtT p.V113V OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 113 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GGTAGCGGTCCACCGAGATGC 0.642000 3 32 1 1 1 1 0 UBASH3B 84959 broad.mit.edu 37 11 122650305 122650305 + 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.chr11:122650305C>T ENST00000284273.5 + 4 878 c.503C>T c.(502-504)aCg>aTg p.T168M NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 168 cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) GAGCTCTATACGTCGTCCAAC 0.572000 30 31 0 0 1 0 0 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.825_splice c.e10+1 p.Y275_splice ATP6V1C2_ENST00000272238.4_Splice_Site_p.Y275_splice 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 0.498000 11 32 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95485027 95485027 + 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.chr9:95485027G>A ENST00000356884.6 - 3 584 c.517C>T c.(517-519)Cgg>Tgg p.R173W BICD2_ENST00000375512.3_Missense_Mutation_p.R173W NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 173 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CGAGCTTCCCGGAATTTGTAC 0.557000 13 38 0 0 1 0 0 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_ENST00000451249.2_Missense_Mutation_p.S41R|GOSR1_ENST00000581721.1_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 0.373000 23 82 0 0 1 0 0 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 0.284000 8 21 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130841188 130841188 + 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.chr5:130841188C>T ENST00000509018.1 - 10 1175 c.970G>A c.(970-972)Ggc>Agc p.G324S RAPGEF6_ENST00000308008.6_Missense_Mutation_p.G324S|FNIP1_ENST00000514667.1_Missense_Mutation_p.G374S|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.G324S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.G324S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.G39S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.G324S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.G324S NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 324 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TCCACAGTGCCGTTTAAAATA 0.323000 14 37 0 0 1 0 0 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_ENST00000555664.1_Missense_Mutation_p.M540K|UNC79_ENST00000256339.4_Missense_Mutation_p.M363K|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 0.512000 14 107 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129290379 129290379 + 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.chr3:129290379G>A ENST00000393239.1 - 17 3487 c.3309C>T c.(3307-3309)gcC>gcT p.A1103A PLXND1_ENST00000324093.4_Silent_p.A1103A Q9Y4D7 PLXD1_HUMAN plexin D1 1103 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane p.A1103A(1) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 TGTGGTGGACGGCCATGGACA 0.647000 16 44 0 0 1 0 0 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 0.527000 17 48 0 0 1 0 0 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 LILRA6_ENST00000270464.5_Splice_Site|LILRA6_ENST00000245621.5_Splice_Site|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Splice_Site|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000396365.2_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 0.572000 14 41 5.03518e-11 5.28694e-11 1 1 0 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 0.547000 78 244 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75501073 75501073 + 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.chr15:75501073G>A ENST00000360639.2 + 2 3004 c.2684G>A c.(2683-2685)cGc>cAc p.R895H C15orf39_ENST00000567617.1_Missense_Mutation_p.R895H|C15orf39_ENST00000394987.4_Missense_Mutation_p.R895H Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 895 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 TGCACCTCACGCATGCTGAAG 0.672000 8 23 0 0 1 0 0 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 ATM_ENST00000452508.2_Silent_p.G2919G|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR NM_000051.3 NP_000042.3 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 0.403000 """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 0 0 1 0 0 LSS 4047 broad.mit.edu 37 21 47615597 47615597 + Nonsense_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.chr21:47615597G>A ENST00000397728.3 - 19 1888 c.1810C>T c.(1810-1812)Cga>Tga p.R604* LSS_ENST00000522411.1_Nonsense_Mutation_p.R593*|LSS_ENST00000457828.2_Nonsense_Mutation_p.R524*|LSS_ENST00000356396.4_Nonsense_Mutation_p.R604* NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 604 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) CACCCATCTCGGTAGGTCTGC 0.557000 4 64 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + 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.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 5 159 0 0 1 0 0 CCDC85A 114800 broad.mit.edu 37 2 56420172 56420172 + 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.chr2:56420172G>A ENST00000407595.2 + 2 1339 c.837G>A c.(835-837)ccG>ccA p.P279P RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 279 His-rich. breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GACCTAGCCCGGAGCACCACA 0.637000 18 41 0 0 1 0 0 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 0.582000 22 53 0 0 1 0 0 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_ENST00000270176.5_Nonsense_Mutation_p.E440*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.E440*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.E440*|SCYL1_ENST00000527009.1_Nonsense_Mutation_p.E297*|SCYL1_ENST00000527630.1_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 0.592000 17 63 2.37509e-13 2.57984e-13 1 1 0 RP11-144L1.4 0 broad.mit.edu 37 1 158450686 158450686 + RNA 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.chr1:158450686C>A ENST00000419738.1 - 0 1391 RP11-144L1.4_ENST00000426251.1_RNA AATATTATTACATTTTAGATT 0.299000 8 18 0.0381472 0.0387625 1 1 0 CPA2 1358 broad.mit.edu 37 7 129929484 129929484 + Missense_Mutation SNP G G A rs146602328 byFrequency 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.chr7:129929484G>A ENST00000222481.4 + 11 1212 c.1157G>A c.(1156-1158)cGc>cAc p.R386H NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 386 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) GACACAGGGCGCTACGGCTTC 0.542000 9 65 0 0 1 0 0 CPNE5 57699 broad.mit.edu 37 6 36767773 36767773 + 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.chr6:36767773G>A ENST00000244751.2 - 4 882 c.258C>T c.(256-258)ttC>ttT p.F86F NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 86 C2 1. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GCTTCTCCTCGAAAAAGTAAT 0.517000 9 33 0 0 1 0 0 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_ENST00000395665.4_Missense_Mutation_p.L170F|FBXW10_ENST00000395667.1_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 0.443000 7 63 0 0 1 0 0 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_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_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 0.602000 13 39 0 0 1 0 0 ZNF512B 57473 broad.mit.edu 37 20 62597977 62597977 + 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.chr20:62597977C>T ENST00000450537.1 - 5 611 c.551G>A c.(550-552)cGg>cAg p.R184Q ZNF512B_ENST00000369888.1_Missense_Mutation_p.R184Q|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R184Q Q96KM6 Z512B_HUMAN zinc finger protein 512B 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CCCAACAGGCCGGCTGATGGT 0.597000 5 71 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19413307 19413307 + 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.chrX:19413307C>T ENST00000338883.4 - 16 2085 c.2086G>A c.(2086-2088)Gag>Aag p.E696K MAP3K15_ENST00000469203.2_Missense_Mutation_p.E528K|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.E131K NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 696 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding p.E743*(1)|p.E171*(1) NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GCTATCTCCTCGTGCAGAGGC 0.507000 3 60 0 0 1 0 0 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 0.478000 6 77 0 0 1 0 0 CCDC104 112942 broad.mit.edu 37 2 55761032 55761032 + 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.chr2:55761032G>A ENST00000349456.4 + 5 569 c.421G>A c.(421-423)Gat>Aat p.D141N CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N|CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N Q96G28 CC104_HUMAN coiled-coil domain containing 104 141 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CTGCTTAACCGATGGCTCTGA 0.358000 3 54 0 0 1 0 0 C17orf97 400566 broad.mit.edu 37 17 263322 263322 + 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.chr17:263322G>A ENST00000360127.6 + 2 704 c.688G>A c.(688-690)Gag>Aag p.E230K C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 230 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 CCCCGACCCCGAGGCCCTCAA 0.716000 3 12 0 0 1 0 0 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 0.403000 5 147 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158450659 158450659 + 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.chr1:158450659T>G ENST00000368152.1 + 1 992 c.992T>G c.(991-993)cTa>cGa p.L331R RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 331 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) AAAGGTTCTCTAAAACTATAT 0.294000 12 35 0 0 1 0 0 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_ENST00000444627.1_Missense_Mutation_p.T722I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T626I 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 0.303000 22 34 0 0 1 0 0 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 0.338000 TSP Lung(27;0.18) 13 41 0 0 1 0 0 BOLA1 51027 broad.mit.edu 37 1 149871937 149871937 + 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.chr1:149871937C>T ENST00000369153.2 + 3 989 c.325C>T c.(325-327)Cgg>Tgg p.R109W BOLA1_ENST00000369150.1_Missense_Mutation_p.R109W|BOLA1_ENST00000369152.5_Missense_Mutation_p.R109W|BOLA1_ENST00000476344.1_3'UTR Q9Y3E2 BOLA1_HUMAN bolA family member 1 109 extracellular region protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CATCCAGGCACGGACCCCCGC 0.642000 12 23 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1742673 1742673 + 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.chr4:1742673G>A ENST00000313288.4 + 13 2289 c.2183G>A c.(2182-2184)cGt>cAt p.R728H NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 728 centrosome p.F726fs*87(1) central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) CTCTTCAAGCGTTTTGAGAAA 0.493000 8 102 0 0 1 0 0 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 0.279000 4 110 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110980379 110980379 + Nonsense_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.chr8:110980379G>A ENST00000524391.1 - 4 2473 c.1441C>T c.(1441-1443)Cga>Tga p.R481* KCNV1_ENST00000297404.1_Nonsense_Mutation_p.R481* Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 481 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CCTTTCAGTCGCAGCATCTCC 0.403000 5 56 0 0 1 0 0 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_ENST00000381124.5_3'UTR|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000350771.3_Missense_Mutation_p.I85M|H2AFV_ENST00000349299.3_Missense_Mutation_p.I73M|H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000521529.1_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 0.333000 6 43 0 0 1 0 0 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 0.284000 8 22 0 0 1 0 0 ANP32D 23519 broad.mit.edu 37 12 48866491 48866491 + 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.chr12:48866491C>T ENST00000266594.1 + 1 44 c.44C>T c.(43-45)aCg>aTg p.T15M NM_012404.2 NP_036536.2 O95626 AN32D_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member D 15 central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 9 CGGAACAGGACGCCCTCCGAT 0.458000 42 91 0 0 1 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99631486 99631486 + 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.chr7:99631486G>A ENST00000324306.6 + 6 1592 c.1358G>A c.(1357-1359)cGc>cAc p.R453H ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R417H|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R240H NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 453 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R453H(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CTCCATCAGCGCATCCACTCT 0.522000 4 162 0 0 1 0 0 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 0.383000 64 145 0 0 1 0 0 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_ENST00000439944.2_Missense_Mutation_p.D520Y|LRRC15_ENST00000428839.1_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 0.557000 12 32 1.08611e-07 1.12172e-07 1 1 0 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)tgfs 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 --- --- --- --- ANKRD36 375248 broad.mit.edu 37 2 97808574 97808575 + Splice_Site 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.chr2:97808574_97808575insA ENST00000420699.2 + 8 1145 c.e8+2 ANKRD36_ENST00000461153.2_Splice_Site NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 p.?(1) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CTGGGACAGGTATTTTGGAATA 0.366 7 6 --- --- --- --- XXYLT1 152002 broad.mit.edu 37 3 194991542 194991542 + Frame_Shift_Del DEL G 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.chr3:194991542delG ENST00000310380.6 - 1 354 c.246delC c.(244-246)ccfs p.P82fs NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 82 integral to membrane transferase activity, transferring glycosyl groups CCTTCGCGCCGGGGGCTGGCG 0.751 2 4 --- --- --- --- 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 ENST00000508166.1 + 0 388 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA NM_020973.4 NP_066024.1 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 --- --- --- --- TSPYL4 23270 broad.mit.edu 37 6 116574801 116574801 + Frame_Shift_Del DEL C 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.chr6:116574801delC ENST00000420283.1 - 1 460 c.371delG c.(370-372)gcfs p.G124fs NM_021648.4 NP_067680.3 Q9UJ04 TSYL4_HUMAN TSPY-like 4 124 nucleosome assembly nucleus endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125) CCCAGCAGGGCCACGGGGCTC 0.597 2 4 --- --- --- --- HNRNPKP3 0 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A 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.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 3 6 --- --- --- ---