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 TPRX1 284355 broad.mit.edu 37 19 48305251 48305251 + Silent SNP A A G TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr19:48305251A>G ENST00000535759.1 - 4 1307 c.1308T>C c.(1306-1308)gaT>gaC p.D436D TPRX1_ENST00000322175.3_Silent_p.D339D|TPRX1_ENST00000543508.1_Silent_p.D329D Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 339 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) AGTCGGAGGCATCGGGGCTCT 0.622000 25 11 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 43 0 0 1 0 0 BDKRB2 0 broad.mit.edu 37 14 96707058 96707058 + Silent SNP C C T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr14:96707058C>T ENST00000542454.2 + 3 3400 c.312C>T c.(310-312)cgC>cgT p.R104R BDKRB2_ENST00000306005.3_Silent_p.R131R|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.R104R|BDKRB2_ENST00000554311.1_Silent_p.R131R P30411 BKRB2_HUMAN bradykinin receptor B2 131 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CGCTCTGCCGCGTGGTGAATG 0.582000 72 121 0 0 1 0 0 OR4D9 390199 broad.mit.edu 37 11 59282749 59282749 + Missense_Mutation SNP C C T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr11:59282749C>T ENST00000329328.3 + 1 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122C(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 GGCGTTTGACCGCTATATAGC 0.527000 4 75 0 0 1 0 0 PHC1 1911 broad.mit.edu 37 12 9083061 9083061 + Missense_Mutation SNP G G A TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr12:9083061G>A ENST00000433083.2 + 6 653 c.508G>A c.(508-510)Gcc>Acc p.A170T PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000543824.1_Missense_Mutation_p.A215T|PHC1_ENST00000544916.1_Missense_Mutation_p.A215T P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 215 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 GAATCAACAGGCCTCAGCTCA 0.507000 4 11 0 0 1 0 0 TRIM27 5987 broad.mit.edu 37 6 28872363 28872363 + Nonsense_Mutation SNP G G T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr6:28872363G>T ENST00000377199.3 - 8 1382 c.1026C>A c.(1024-1026)taC>taA p.Y342* TRIM27_ENST00000377194.3_Nonsense_Mutation_p.Y342* NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 342 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 CCTGTTGGAGGTAACTGTACC 0.552000 T RET papillary thyroid 15 20 2.23348e-06 2.23348e-06 1 1 0 LRIG1 26018 broad.mit.edu 37 3 66433766 66433766 + Missense_Mutation SNP C C T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr3:66433766C>T ENST00000383703.3 - 16 2665 c.2062G>A c.(2062-2064)Gcc>Acc p.A688T SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.A711T Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 711 Ig-like C2-type 2. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CATTGGAGGGCCACTGTTTCT 0.597000 27 45 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 170003625 170003625 + Missense_Mutation SNP A A C TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr1:170003625A>C ENST00000367765.1 - 7 2011 c.510T>G c.(508-510)ttT>ttG p.F170L KIFAP3_ENST00000361580.2_Missense_Mutation_p.F210L|KIFAP3_ENST00000538366.1_Missense_Mutation_p.F132L|KIFAP3_ENST00000367767.1_Missense_Mutation_p.F166L NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 210 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TAAGTCCATGAAATTGAGAAA 0.299000 12 25 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063212 48063212 + Missense_Mutation SNP C C T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr15:48063212C>T ENST00000316364.5 + 19 2891 c.2452C>T c.(2452-2454)Cca>Tca p.P818S SEMA6D_ENST00000536845.2_Missense_Mutation_p.P818S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P775S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P762S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P799S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P743S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P756S NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 818 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity p.P756S(1)|p.P818S(1) biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) ACCTCATTCCCCATTAAGTCA 0.488000 22 68 0 0 1 0 0 POU5F2 134187 broad.mit.edu 37 5 93076551 93076551 + Missense_Mutation SNP A A G TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr5:93076551A>G ENST00000510627.4 - 1 792 c.719T>C c.(718-720)aTc>aCc p.I240T FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 240 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) AATGTGGCTGATTTGCTGGGG 0.552000 10 22 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49935464 49935464 + Missense_Mutation SNP G G A TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr12:49935464G>A ENST00000257981.6 + 3 622 c.362G>A c.(361-363)gGg>gAg p.G121E KCNH3_ENST00000550434.1_3'UTR NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 121 PAC. regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 AATGAGAAAGGGGAGGTGGCT 0.542000 61 129 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584709 138584709 + Missense_Mutation SNP G G A TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr6:138584709G>A ENST00000251691.4 + 12 2255 c.2089G>A c.(2089-2091)Gac>Aac p.D697N NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 697 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGAGGAGGTGGACACCGCTCT 0.507000 23 26 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791757 42791757 + Missense_Mutation SNP C C T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr19:42791757C>T ENST00000572681.2 + 6 3438 c.3370C>T c.(3370-3372)Cgg>Tgg p.R1124W CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W Q96RK0 CIC_HUMAN capicua transcriptional repressor 215 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R215W(4) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAAGCGGCACCGGGCCCTGGT 0.612000 """Mis, F, S""" oligodendroglioma 23 11 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 15 30 0 0 1 0 0 WDR76 79968 broad.mit.edu 37 15 44150878 44150878 + Missense_Mutation SNP T T G TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr15:44150878T>G ENST00000263795.6 + 11 1489 c.1419T>G c.(1417-1419)caT>caG p.H473Q WDR76_ENST00000381246.2_Missense_Mutation_p.H409Q|WDR76_ENST00000478130.1_3'UTR NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 473 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) GGGATACTCATATTTATGATG 0.383000 11 73 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61851533 61851533 + Missense_Mutation SNP G G A TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr16:61851533G>A ENST00000577390.1 - 7 2081 c.1127C>T c.(1126-1128)gCg>gTg p.A376V CDH8_ENST00000299345.6_Missense_Mutation_p.A376V|CDH8_ENST00000584337.1_Missense_Mutation_p.A376V|CDH8_ENST00000577730.1_Missense_Mutation_p.A376V NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 376 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTTGACTGTCGCCGTGTCTTT 0.483000 12 29 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45804412 45804412 + Silent SNP G G A TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr3:45804412G>A ENST00000358525.4 - 9 1571 c.1456C>T c.(1456-1458)Ctg>Ttg p.L486L SLC6A20_ENST00000456124.2_Silent_p.L486L|SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000353278.4_Silent_p.L449L NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 486 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CACCTCCTCAGCCCGTACACG 0.552000 22 81 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22324757 22324757 + Missense_Mutation SNP C C T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr22:22324757C>T ENST00000398793.2 - 6 840 c.406G>A c.(406-408)Gtc>Atc p.V136I TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Missense_Mutation_p.V136I NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 136 Toprim. DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) TTGTTCATGACGGGCAGAACA 0.607000 8 10 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15839063 15839063 + Missense_Mutation SNP C C T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr16:15839063C>T ENST00000338282.6 - 20 2549 c.2443G>A c.(2443-2445)Gcc>Acc p.A815T MYH11_ENST00000452625.2_Missense_Mutation_p.A822T|MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000576790.1_Missense_Mutation_p.A815T|MYH11_ENST00000300036.5_Missense_Mutation_p.A815T NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 815 IQ. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 ACCTTCATGGCGGTCAGCTGC 0.617000 T CBFB AML 4 51 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151962268 151962268 + Missense_Mutation SNP A A G TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr7:151962268A>G ENST00000355193.2 - 8 1257 c.1039T>C c.(1039-1041)Tgc>Cgc p.C347R KMT2C_ENST00000262189.6_Missense_Mutation_p.C347R lysine (K)-specific methyltransferase 2C p.C347G(1) GGGCTGTCGCACACTGCACAG 0.373000 7 178 0 0 1 0 0 CABP2 51475 broad.mit.edu 37 11 67287397 67287397 + Silent SNP C C T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr11:67287397C>T ENST00000294288.4 - 6 573 c.504G>A c.(502-504)ggG>ggA p.G168G CABP2_ENST00000353903.5_Silent_p.G111G NM_016366.2 NP_057450.2 Q9NPB3 CABP2_HUMAN calcium binding protein 2 168 EF-hand 3. signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 9 TGCGGCCGTCCCCATTGGTGT 0.687000 6 9 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811117 140811117 + Silent SNP C C T rs62344938 TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr4:140811117C>T ENST00000509479.2 - 2 2329 c.1473G>A c.(1471-1473)caG>caA p.Q491Q MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 491 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgttgct 0.547000 3 30 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070687 141070687 + RNA SNP C C T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr9:141070687C>T ENST00000503395.1 + 0 1462 ACAACTGGGCCAAGGGACGCT 0.577000 3 3 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16945358 16945358 + RNA SNP G G C rs945905 by1000genomes TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr1:16945358G>C ENST00000412962.1 - 0 2161 AGTAGGAGAAGAGAGAGGAAG 0.567000 3 11 0 0 1 0 0 EFEMP1 2202 broad.mit.edu 37 2 56108807 56108807 + Missense_Mutation SNP G G A TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr2:56108807G>A ENST00000394555.2 - 5 1015 c.580C>T c.(580-582)Cgg>Tgg p.R194W EFEMP1_ENST00000394554.1_Missense_Mutation_p.R194W|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R194W|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R136W NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 194 EGF-like 2; calcium-binding (Potential). negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AAGGATCCCCGTAAATTGATG 0.512000 32 52 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 57 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844900 18844900 + RNA SNP C C T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr22:18844900C>T ENST00000412938.1 + 0 3150 ACAGCTTCAGCGTGCCTGCGA 0.577000 4 56 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228529181 228529181 + Missense_Mutation SNP G G A TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr1:228529181G>A ENST00000570156.2 + 85 20845 c.20771G>A c.(20770-20772)cGc>cAc p.R6924H OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5967H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601H NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5967 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGGATGACCGCGCCTTCGAG 0.632000 9 9 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185987381 185987381 + Silent SNP A A G TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr1:185987381A>G ENST00000271588.4 + 34 5596 c.5367A>G c.(5365-5367)aaA>aaG p.K1789K HMCN1_ENST00000367492.2_Silent_p.K1789K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1789 Ig-like C2-type 15. 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 ATGGACGCAAACTGGTTATTG 0.418000 45 98 0 0 1 0 0 DTNB 1838 broad.mit.edu 37 2 25655840 25655840 + Missense_Mutation SNP G G A TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr2:25655840G>A ENST00000406818.3 - 14 1621 c.1372C>T c.(1372-1374)Cgc>Tgc p.R458C DTNB_ENST00000545439.1_Missense_Mutation_p.R254C|DTNB_ENST00000496972.2_Missense_Mutation_p.R401C|DTNB_ENST00000407661.3_Missense_Mutation_p.R458C|DTNB_ENST00000407038.3_Missense_Mutation_p.R428C|DTNB_ENST00000407186.1_Missense_Mutation_p.R428C|DTNB_ENST00000404103.3_Missense_Mutation_p.R458C|DTNB_ENST00000405222.1_Missense_Mutation_p.R428C|DTNB_ENST00000288642.8_Missense_Mutation_p.R458C NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 458 cytoplasm calcium ion binding|zinc ion binding p.R458C(1) endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTTCCAGGCGGAGACGCTGA 0.597000 8 6 0 0 1 0 0 MAP3K8 1326 broad.mit.edu 37 10 30739244 30739244 + Missense_Mutation SNP G G A TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr10:30739244G>A ENST00000263056.1 + 5 1258 c.562G>A c.(562-564)Gag>Aag p.E188K MAP3K8_ENST00000542547.1_Missense_Mutation_p.E188K|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E188K NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 188 Protein kinase. cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) CTTCCGGCACGAGAACATCGC 0.483000 28 81 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11049595 11049595 + RNA SNP A A G TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr21:11049595A>G ENST00000470054.1 - 0 513 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) GGGCTGTCGCACACTGCACAG 0.378000 15 205 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166165901 166165901 + Silent SNP G G A TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr2:166165901G>A ENST00000375437.2 + 6 935 c.645G>A c.(643-645)gcG>gcA p.A215A SCN2A_ENST00000375427.2_Intron|SCN2A_ENST00000283256.6_Silent_p.A215A|SCN2A_ENST00000357398.3_Intron NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 215 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.A215A(2) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ATGTCTCAGCGTTGAGAACAT 0.438000 12 34 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78428460 78428464 + Frame_Shift_Del DEL TCTTT TCTTT - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr1:78428460_78428464delTCTTT ENST00000370767.1 - 14 1422_1426 c.1335_1339delAAAGA c.(1333-1341)gattfs p.EKI445fs FUBP1_ENST00000370768.2_Frame_Shift_Del_p.EKI445fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.EKI466fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 445 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 CTCACACCAATCTTTTCTTCTATGA 0.332 """F, N""" oligodendroglioma 24 20 --- --- --- --- VEPH1 79674 broad.mit.edu 37 3 157081226 157081227 + Frame_Shift_Ins INS - - T TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr3:157081226_157081227insT ENST00000362010.2 - 9 1968_1969 c.1661_1662insA c.(1660-1662)actfs p.T554fs VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs|RP11-550I24.2_ENST00000487238.1_RNA NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 554 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTTTGCTGAGGTTTTTTTTTAA 0.396 7 265 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178928078 178928080 + In_Frame_Del DEL AGA AGA - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr3:178928078_178928080delAGA ENST00000263967.3 + 8 1513_1515 c.1356_1358delAGA c.(1354-1359)tta>tt p.LE452del NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 452 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CTCATGGATTAGAAGATTTGCTG 0.350 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 43 92 --- --- --- --- PPEF2 5470 broad.mit.edu 37 4 76809380 76809382 + In_Frame_Del DEL CTC CTC - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr4:76809380_76809382delCTC ENST00000286719.7 - 6 873_875 c.517_519delGAG c.(517-519)del p.E173del NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 173 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ACACTGTGATCTCCTCACTGTAA 0.507 15 108 --- --- --- --- MPDZ 8777 broad.mit.edu 37 9 13216804 13216804 + Frame_Shift_Del DEL C C - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr9:13216804delC ENST00000319217.7 - 10 1506 c.1259delG c.(1258-1260)gafs p.G420fs MPDZ_ENST00000546205.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000381022.2_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000541718.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000536827.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000447879.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000381015.4_Frame_Shift_Del_p.G420fs NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 420 PDZ 3. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TTGGATTCTTCCATCATGCTC 0.313 14 23 --- --- --- --- DNAI1 27019 broad.mit.edu 37 9 34514457 34514458 + Frame_Shift_Del DEL TG TG - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr9:34514457_34514458delTG ENST00000242317.4 + 17 1806_1807 c.1635_1636delTG c.(1633-1638)actgfs p.TV545fs NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 545 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) CAGTGGACACTGTGTCCTGGAA 0.559 Kartagener syndrome 43 80 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139413070 139413072 + In_Frame_Del DEL AGA AGA - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr9:139413070_139413072delAGA ENST00000277541.6 - 6 1145_1147 c.1070_1072delTCT c.(1069-1074)tac>t p.FY357del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 357 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.F357delF(4) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CACTCGCAGTAGAAGGAGGCCAC 0.655 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 20 15 --- --- --- --- CREBZF 58487 broad.mit.edu 37 11 85375242 85375244 + In_Frame_Del DEL CTT CTT - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr11:85375242_85375244delCTT ENST00000527447.1 - 1 902_904 c.676_678delAAG c.(676-678)del p.K226del CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 226 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K226delK(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) TCACGTACTCCTTCTTCTTCAGT 0.665 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 136 --- --- --- --- USP5 0 broad.mit.edu 37 12 6970648 6970650 + In_Frame_Del DEL GAG GAG - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr12:6970648_6970650delGAG ENST00000229268.8 + 13 1592_1594 c.1540_1542delGAG c.(1540-1542)del p.E515del USP5_ENST00000389231.5_In_Frame_Del_p.E515del|USP5_ENST00000541969.1_3'UTR NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 515 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 GCAAGCCGAAGAGGAGAAGATGG 0.596 23 62 --- --- --- --- DERA 51071 broad.mit.edu 37 12 16185574 16185574 + Frame_Shift_Del DEL A A - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr12:16185574delA ENST00000428559.2 + 7 948 c.736delA c.(736-738)aafs p.K246fs DERA_ENST00000526530.1_Frame_Shift_Del_p.K158fs|DERA_ENST00000532964.1_Frame_Shift_Del_p.K203fs|DERA_ENST00000532573.1_3'UTR NM_015954.2 NP_057038.2 Q9Y315 DEOC_HUMAN deoxyribose-phosphate aldolase (putative) 246 deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process cytoplasm deoxyribose-phosphate aldolase activity|protein binding endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 Hepatocellular(102;0.121) TTTCTTCTGGAAAACTGGAAA 0.348 2 4 --- --- --- --- NACA 4666 broad.mit.edu 37 12 57110851 57110853 + In_Frame_Del DEL GAA GAA - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr12:57110851_57110853delGAA ENST00000454682.1 - 3 4742_4744 c.4461_4463delTTC c.(4459-4464)tcc>tc p.SS1487del NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TTTGGGAGAGGAAGAAGTGGCAA 0.631 T BCL6 NHL 13 35 --- --- --- --- LCP1 3936 broad.mit.edu 37 13 46721233 46721235 + In_Frame_Del DEL CTT CTT - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr13:46721233_46721235delCTT ENST00000398576.2 - 13 1370_1372 c.982_984delAAG c.(982-984)del p.K328del LCP1_ENST00000323076.2_In_Frame_Del_p.K328del P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 328 Actin-binding 1.|CH 2. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GGATGTCATCCTTCTCCTGCAAT 0.522 T BCL6 NHL 12 19 --- --- --- --- FHOD1 29109 broad.mit.edu 37 16 67265220 67265222 + In_Frame_Del DEL CTT CTT - TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f192a681-2d96-4f8c-8fd1-c4889fadf0c5 00b17af9-fd37-4d43-a8ec-1cdd5246ba25 g.chr16:67265220_67265222delCTT ENST00000258201.4 - 17 2783_2785 c.2536_2538delAAG c.(2536-2538)del p.K846del FHOD1_ENST00000567687.1_In_Frame_Del_p.K425del NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 846 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) CCTCTGACACCTTCTCCAGGTAG 0.586 19 28 --- --- --- ---