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 KIF17 57576 broad.mit.edu 37 1 21040007 21040007 + Silent SNP C C G TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr1:21040007C>G ENST00000247986.2 - 3 730 c.420G>C c.(418-420)ctG>ctC p.L140L KIF17_ENST00000400463.3_Silent_p.L140L|KIF17_ENST00000375044.1_Silent_p.L40L Q9P2E2 KIF17_HUMAN kinesin family member 17 140 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TGTAGATCTCCAGGTAGGAGG 0.582 3 43 --- --- --- --- NDC1 55706 broad.mit.edu 37 1 54284690 54284690 + Silent SNP T T C TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr1:54284690T>C ENST00000371429.3 - 6 1255 c.657A>G c.(655-657)gaA>gaG p.E219E NDC1_ENST00000234725.8_Silent_p.E104E|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000540001.1_Silent_p.E219E|NDC1_ENST00000537333.1_5'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin GGAACAGTGATTCCACACAAC 0.318 3 34 --- --- --- --- USP33 23032 broad.mit.edu 37 1 78194272 78194272 + Silent SNP G G A TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr1:78194272G>A ENST00000370793.1 - 11 1282 c.936C>T c.(934-936)agC>agT p.S312S USP33_ENST00000370794.3_Silent_p.S281S|USP33_ENST00000357428.1_Silent_p.S312S|USP33_ENST00000370792.3_Silent_p.S312S NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 312 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 CATCCGACTGGCTCTTGTCTT 0.378 9 86 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103427811 103427811 + Missense_Mutation SNP C C A TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr1:103427811C>A ENST00000358392.2 - 40 3388 c.3071G>T c.(3070-3072)gGt>gTt p.G1024V COL11A1_ENST00000353414.4_Missense_Mutation_p.G973V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G896V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1012V NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1012 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.G1012V(1)|p.G1024V(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCTTGAGGACCTGGATCACC 0.388 5 81 --- --- --- --- AMPD1 270 broad.mit.edu 37 1 115223006 115223006 + Missense_Mutation SNP A A G TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr1:115223006A>G ENST00000369538.3 - 5 775 c.728T>C c.(727-729)gTa>gCa p.V243A AMPD1_ENST00000520113.2_Missense_Mutation_p.V247A|AMPD1_ENST00000353928.6_Missense_Mutation_p.V214A NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 214 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GACGTAAACTACACCGTCCTT 0.443 30 101 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 185953341 185953341 + Missense_Mutation SNP G G A rs145551718 TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr1:185953341G>A ENST00000271588.4 + 19 3060 c.2831G>A c.(2830-2832)aGc>aAc p.S944N HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.S944N NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 944 Ig-like C2-type 6. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGTGATGGGAGCCTCCATATT 0.388 3 58 --- --- --- --- AVPR1B 553 broad.mit.edu 37 1 206224447 206224447 + Missense_Mutation SNP T T C TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr1:206224447T>C ENST00000367126.4 + 1 472 c.7T>C c.(7-9)Tct>Cct p.S3P NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 3 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) GCTCATGGATTCTGGGCCTCT 0.607 20 445 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10914947 10914947 + Missense_Mutation SNP C C A TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr2:10914947C>A ENST00000381661.3 + 9 781 c.672C>A c.(670-672)ttC>ttA p.F224L ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.F224L NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 224 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) GGGGCCTTTTCACTGTGACTC 0.517 4 194 --- --- --- --- IWS1 55677 broad.mit.edu 37 2 128262415 128262415 + Missense_Mutation SNP A A G TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr2:128262415A>G ENST00000295321.4 - 3 1323 c.1064T>C c.(1063-1065)aTg>aCg p.M355T AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.M362T NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 355 Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TTTTCTGTCCATATGGCTGTC 0.423 24 142 --- --- --- --- BSN 8927 broad.mit.edu 37 3 49697949 49697949 + Missense_Mutation SNP C C T TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr3:49697949C>T ENST00000296452.4 + 6 8785 c.8671C>T c.(8671-8673)Cgc>Tgc p.R2891C NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2891 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CAGCCTGGTCCGCAAGGTGAA 0.657 6 178 --- --- --- --- PLK4 10733 broad.mit.edu 37 4 128818021 128818021 + Silent SNP G G T TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr4:128818021G>T ENST00000270861.5 + 15 3043 c.2769G>T c.(2767-2769)gtG>gtT p.V923V PLK4_ENST00000507249.1_Silent_p.V862V|PLK4_ENST00000513090.1_Silent_p.V891V|PLK4_ENST00000515069.1_Silent_p.V845V|PLK4_ENST00000514379.1_Silent_p.V882V NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 923 POLO box. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 AGGCAGGAGTGTCTTCTATCA 0.403 5 94 --- --- --- --- SH3TC2 79628 broad.mit.edu 37 5 148418008 148418008 + Missense_Mutation SNP T T C TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr5:148418008T>C ENST00000515425.1 - 8 952 c.851A>G c.(850-852)aAg>aGg p.K284R SH3TC2_ENST00000394358.2_Missense_Mutation_p.K169R|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K277R|SH3TC2_ENST00000538184.1_5'UTR NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 284 SH3. binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTTCATCCTTTTCTCCTGG 0.483 3 198 --- --- --- --- MCM3 4172 broad.mit.edu 37 6 52137119 52137119 + Missense_Mutation SNP T T G TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr6:52137119T>G ENST00000596288.1 - 12 1969 c.1942A>C c.(1942-1944)Atg>Ctg p.M648L MCM3_ENST00000229854.7_Missense_Mutation_p.M603L|MCM3_ENST00000419835.2_Missense_Mutation_p.M557L NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 603 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) TCTGAGCTCATGCTATCCTGG 0.567 5 79 --- --- --- --- LMBRD1 55788 broad.mit.edu 37 6 70447838 70447838 + Missense_Mutation SNP T T C TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr6:70447838T>C ENST00000370577.3 - 7 861 c.632A>G c.(631-633)tAc>tGc p.Y211C LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y138C NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 211 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 ACTTACTGTGTAAGTTATAGC 0.284 3 27 --- --- --- --- SEMA3D 223117 broad.mit.edu 37 7 84671533 84671533 + Missense_Mutation SNP G G C TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr7:84671533G>C ENST00000284136.6 - 8 973 c.930C>G c.(928-930)tgC>tgG p.C310W NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 310 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CAGGAATTGAGCAAATCAGTC 0.378 10 293 --- --- --- --- SOHLH1 402381 broad.mit.edu 37 9 138588485 138588485 + Missense_Mutation SNP C C A TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr9:138588485C>A ENST00000298466.5 - 5 694 c.634G>T c.(634-636)Gtg>Ttg p.V212L SOHLH1_ENST00000425225.1_Missense_Mutation_p.V212L NM_001012415.2 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 212 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CCACCCCGCACCTGGCACAGC 0.672 11 28 --- --- --- --- CCKBR 887 broad.mit.edu 37 11 6281223 6281223 + Missense_Mutation SNP G G C TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr11:6281223G>C ENST00000525462.1 + 1 68 c.65G>C c.(64-66)tGc>tCc p.C22S CCKBR_ENST00000532715.1_Missense_Mutation_p.C22S|CCKBR_ENST00000334619.2_Missense_Mutation_p.C22S|CCKBR_ENST00000525014.1_Missense_Mutation_p.C22S|CCKBR_ENST00000531712.1_Missense_Mutation_p.C22S P32239 GASR_HUMAN cholecystokinin B receptor 22 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GCTTCCCTGTGCCGCCCGGGG 0.716 3 10 --- --- --- --- OR8H2 390151 broad.mit.edu 37 11 55873014 55873014 + Missense_Mutation SNP T T A TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr11:55873014T>A ENST00000313503.1 + 1 496 c.496T>A c.(496-498)Ttg>Atg p.L166M NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) CATGAGCAGATTGCATTTCTA 0.428 HNSCC(53;0.14) 8 215 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794777 55794777 + Silent SNP T T C TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr12:55794777T>C ENST00000379665.2 + 1 564 c.465T>C c.(463-465)ttT>ttC p.F155F NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TCATTATTTTTCCCCCCGTGA 0.438 4 151 --- --- --- --- PRMT5 10419 broad.mit.edu 37 14 23395506 23395506 + Splice_Site SNP C C G TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr14:23395506C>G ENST00000324366.8 - 7 837 c.e7-1 PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Splice_Site|PRMT5_ENST00000553897.1_Splice_Site|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000553641.1_Splice_Site|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000216350.8_Splice_Site|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397441.2_Splice_Site NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) ATTTCAAGAGCTACATGAGGC 0.473 3 57 --- --- --- --- MOAP1 64112 broad.mit.edu 37 14 93649914 93649914 + Missense_Mutation SNP T T C TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr14:93649914T>C ENST00000556883.1 - 2 1158 c.674A>G c.(673-675)aAt>aGt p.N225S MOAP1_ENST00000298894.4_Missense_Mutation_p.N225S Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 225 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) aattaaaggattgtttatctt 0.453 29 95 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93485179 93485179 + Missense_Mutation SNP A A G TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr15:93485179A>G ENST00000394196.4 + 8 1888 c.820A>G c.(820-822)Aaa>Gaa p.K274E CHD2_ENST00000557381.1_Missense_Mutation_p.K274E|CHD2_ENST00000536619.1_Missense_Mutation_p.K287E|CHD2_ENST00000420239.2_Missense_Mutation_p.K274E NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 274 Chromo 1. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) ACTGGGAAAGAAAGGAGGTAT 0.328 3 97 --- --- --- --- PARD6A 50855 broad.mit.edu 37 16 67694962 67694962 + Silent SNP T T C TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr16:67694962T>C ENST00000458121.2 + 1 112 c.21T>C c.(19-21)acT>acC p.T7T PARD6A_ENST00000602551.1_Silent_p.T7T|PARD6A_ENST00000219255.3_Silent_p.T7T NM_001037281.1|NM_016948.2 NP_001032358.1|NP_058644.1 Q9NPB6 PAR6A_HUMAN par-6 family cell polarity regulator alpha 7 Interaction with PRKCI and PRKCZ. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CGCAGAGGACTCCGGCGCGCA 0.751 4 49 --- --- --- --- PDPR 55066 broad.mit.edu 37 16 70154579 70154579 + Missense_Mutation SNP T T G TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr16:70154579T>G ENST00000288050.4 + 3 1141 c.184T>G c.(184-186)Tcc>Gcc p.S62A PDPR_ENST00000398122.3_Intron|PDPR_ENST00000568530.1_Missense_Mutation_p.S62A NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 62 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) CTATCACCTCTCCAAAATGGG 0.557 4 96 --- --- --- --- FZR1 51343 broad.mit.edu 37 19 3527681 3527681 + Missense_Mutation SNP C C G TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr19:3527681C>G ENST00000441788.2 + 7 759 c.523C>G c.(523-525)Ccc>Gcc p.P175A FZR1_ENST00000395095.3_Missense_Mutation_p.P175A|FZR1_ENST00000313639.8_Intron NM_016263.3 NP_057347.2 Q9UM11 FZR_HUMAN fizzy/cell division cycle 20 related 1 (Drosophila) 175 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCAAGATCCCCTTCAAGGT 0.642 4 55 --- --- --- --- EMR2 30817 broad.mit.edu 37 19 14877064 14877064 + Missense_Mutation SNP T T A TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr19:14877064T>A ENST00000315576.3 - 7 1068 c.617A>T c.(616-618)aAc>aTc p.N206I EMR2_ENST00000353005.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.N206I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.N206I|EMR2_ENST00000596991.2_Missense_Mutation_p.N206I|EMR2_ENST00000392967.2_Missense_Mutation_p.N206I|EMR2_ENST00000392964.3_Intron NM_013447.3 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 206 EGF-like 4; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GACGGTATTGTTTGGGCCATT 0.592 12 185 --- --- --- --- ITGB2 3689 broad.mit.edu 37 21 46320321 46320321 + Missense_Mutation SNP C C A TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr21:46320321C>A ENST00000397850.2 - 8 1263 c.811G>T c.(811-813)Ggc>Tgc p.G271C ITGB2_ENST00000397854.3_Missense_Mutation_p.G214C|ITGB2_ENST00000397857.1_Missense_Mutation_p.G271C|ITGB2_ENST00000302347.5_Missense_Mutation_p.G271C|ITGB2_ENST00000355153.4_Missense_Mutation_p.G271C|ITGB2_ENST00000397852.1_Missense_Mutation_p.G271C P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 271 VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) TTCCCGTCGCCCGCGAAATGG 0.622 15 52 --- --- --- --- APOBEC3B 9582 broad.mit.edu 37 22 39385568 39385568 + Missense_Mutation SNP G G A TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr22:39385568G>A ENST00000402182.3 + 5 731 c.676G>A c.(676-678)Ggc>Agc p.G226S APOBEC3B_ENST00000333467.3_Missense_Mutation_p.G226S|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G226S Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 226 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) CCTGGACAATGGCACCTGGGT 0.562 13 28 --- --- --- --- GLRA2 2742 broad.mit.edu 37 X 14627241 14627241 + Missense_Mutation SNP G G A TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chrX:14627241G>A ENST00000218075.4 + 7 1374 c.844G>A c.(844-846)Gca>Aca p.A282T GLRA2_ENST00000355020.4_Missense_Mutation_p.A282T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A193T NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 282 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) AAATATGGATGCAGCCCCTGC 0.478 4 75 --- --- --- --- GRIA3 2892 broad.mit.edu 37 X 122616696 122616696 + Missense_Mutation SNP A A C TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chrX:122616696A>C ENST00000264357.5 + 15 2778 c.2486A>C c.(2485-2487)tAt>tCt p.Y829S GRIA3_ENST00000371251.1_Missense_Mutation_p.Y829S|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y829S NM_000828.4 NP_000819 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 829 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) GGCGTTTTCTATATACTTGTC 0.468 9 54 --- --- --- --- STK26 51765 broad.mit.edu 37 X 131188793 131188793 + Silent SNP A A G TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chrX:131188793A>G ENST00000394334.2 + 3 430 c.177A>G c.(175-177)gaA>gaG p.E59E MST4_ENST00000354719.6_Silent_p.E59E|MST4_ENST00000496850.1_Silent_p.E59E|MST4_ENST00000481105.1_Silent_p.E59E|MST4_ENST00000394335.2_Intron NM_016542.3 NP_057626.2 Q9P289 MST4_HUMAN 59 Protein kinase. cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) ACCTTGAGGAAGCCGAAGATG 0.373 23 20 --- --- --- --- SRPK3 26576 broad.mit.edu 37 X 153046771 153046771 + Nonsense_Mutation SNP G G T TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chrX:153046771G>T ENST00000489426.1 + 8 2727 c.361G>T c.(361-363)Gaa>Taa p.E121* SRPK3_ENST00000370104.1_Nonsense_Mutation_p.E54*|SRPK3_ENST00000393786.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370101.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370100.1_Nonsense_Mutation_p.E12*|SRPK3_ENST00000370108.3_Nonsense_Mutation_p.E54* Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 54 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CGACGACGAGGAACAGGAAGA 0.667 3 15 --- --- --- --- CDKN1B 1027 broad.mit.edu 37 12 12871144 12871145 + Frame_Shift_Ins INS - - CT TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr12:12871144_12871145insCT ENST00000228872.4 + 1 1087_1088 c.371_372insCT c.(370-375)aactctfs p.NS124fs CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.NS124fs NM_004064.3 NP_004055.1 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 124 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) GCTCCGGCTAACTCTGAGGACA 0.653 16 42 --- --- --- --- TP53BP1 7158 broad.mit.edu 37 15 43748185 43748186 + Frame_Shift_Ins INS - - T TCGA-EJ-7786-01A-11D-2114-08 TCGA-EJ-7786-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 090a3fe0-0591-40bd-80fc-485baf11cc56 8d1ae986-87cd-496a-956f-5dfe60cea2e7 g.chr15:43748185_43748186insT ENST00000263801.3 - 12 2857_2858 c.2605_2606insA c.(2605-2607)atgfs p.M869fs TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.M874fs NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 869 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TGCATTAGCCATTTTTGAGTCT 0.470 Other conserved DNA damage response genes 7 189 --- --- --- ---