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 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 4 14 0 0 0.001168 0 0 LDHD 197257 broad.mit.edu 37 16 75149130 75149130 + Missense_Mutation SNP C C T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr16:75149130C>T ENST00000300051.4 - 3 339 c.293G>A c.(292-294)gGc>gAc p.G98D LDHD_ENST00000450168.2_Missense_Mutation_p.G98D NM_153486.3 NP_705690.2 Q86WU2 LDHD_HUMAN lactate dehydrogenase D 98 FAD-binding PCMH-type. D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 16 AAGCCCGGTGCCGGTGCCGAA 0.672000 4 133 0 0 0.009096 0 0 OR5K4 403278 broad.mit.edu 37 3 98073605 98073605 + Missense_Mutation SNP G G A TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr3:98073605G>A ENST00000354924.2 + 1 908 c.908G>A c.(907-909)aGg>aAg p.R303K RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 AAAATTATGAGGAATTATAAC 0.249000 60 138 0 0 0.014410 0 0 FBXO38 81545 broad.mit.edu 37 5 147803622 147803622 + Silent SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr5:147803622T>C ENST00000340253.5 + 13 1848 c.1680T>C c.(1678-1680)aaT>aaC p.N560N FBXO38_ENST00000394370.3_Silent_p.N560N|FBXO38_ENST00000513826.1_Silent_p.N560N|FBXO38_ENST00000296701.6_Silent_p.N560N Q6PIJ6 FBX38_HUMAN F-box protein 38 560 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGTGGAAATAATACTCCAG 0.413000 6 59 0 0 0.001168 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 4 112 0 0 0.009096 0 0 CIC 23152 broad.mit.edu 37 19 42791394 42791394 + Splice_Site SNP T T G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr19:42791394T>G ENST00000572681.2 + 4 3247 c.e4+2 CIC_ENST00000160740.3_Splice_Site|CIC_ENST00000575354.2_Splice_Site Q96RK0 CIC_HUMAN capicua transcriptional repressor regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding 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) TGATGATGCGTGAGTTCCCTG 0.652000 """Mis, F, S""" oligodendroglioma 3 14 0 0 0.009096 0 0 GPR85 0 broad.mit.edu 37 7 112723671 112723671 + Missense_Mutation SNP A A G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr7:112723671A>G ENST00000501255.2 - 3 1729 c.1106T>C c.(1105-1107)gTt>gCt p.V369A GPR85_ENST00000424100.1_Missense_Mutation_p.V369A|GPR85_ENST00000297146.2_Missense_Mutation_p.V369A|GPR85_ENST00000449591.1_Missense_Mutation_p.V369A NM_001146265.1|NM_001146266.1|NM_018970.6 NP_001139737.1|NP_001139738.1|NP_061843.3 P60893 GPR85_HUMAN G protein-coupled receptor 85 369 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 CCCTCATATAACACAGTAAGG 0.423000 25 167 0 0 0.003330 0 0 MAGI2 9863 broad.mit.edu 37 7 77762326 77762326 + Missense_Mutation SNP G G A rs148526889 TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr7:77762326G>A ENST00000354212.4 - 18 3336 c.3083C>T c.(3082-3084)gCg>gTg p.A1028V MAGI2_ENST00000522391.1_Missense_Mutation_p.A1028V|MAGI2_ENST00000419488.1_Missense_Mutation_p.A1014V NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1028 Pro-rich. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ACTCTGCTGCGCCATGGGACT 0.622000 5 236 0 0 0.000602 0 0 WDR49 151790 broad.mit.edu 37 3 167246909 167246909 + Silent SNP A A G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr3:167246909A>G ENST00000308378.3 - 10 1586 c.1281T>C c.(1279-1281)tcT>tcC p.S427S WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.S491S|WDR49_ENST00000476376.1_Silent_p.S252S NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 427 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TCTTATCAGTAGACATAATAA 0.353000 11 44 0 0 0.008291 0 0 CECR2 27443 broad.mit.edu 37 22 18020229 18020229 + Missense_Mutation SNP C C T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr22:18020229C>T ENST00000262608.8 + 13 1561 c.1561C>T c.(1561-1563)Cgg>Tgg p.R521W CECR2_ENST00000400573.4_Missense_Mutation_p.R520W|CECR2_ENST00000400585.2_Missense_Mutation_p.R379W NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 562 Bromo. chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GGAGAAAAGACGGAGTCGGGC 0.527000 6 36 0 0 0.001168 0 0 FOSL2 2355 broad.mit.edu 37 2 28627127 28627127 + Missense_Mutation SNP C C T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr2:28627127C>T ENST00000264716.4 + 2 1119 c.256C>T c.(256-258)Ccg>Tcg p.P86S FOSL2_ENST00000545753.1_Missense_Mutation_p.P47S|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Missense_Mutation_p.P61S NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 86 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) CAGCCCCCTGCCGGGCCTGGC 0.647000 4 138 0 0 0.000602 0 0 OR5H14 403273 broad.mit.edu 37 3 97868884 97868884 + Missense_Mutation SNP A A G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr3:97868884A>G ENST00000437310.1 + 1 715 c.655A>G c.(655-657)Ata>Gta p.I219V NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TATATCTTACATATTTGTCCT 0.318000 23 34 0 0 0.002780 0 0 IGHV4-28 0 broad.mit.edu 37 14 106780540 106780540 + RNA SNP C C T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr14:106780540C>T ENST00000390612.2 - 0 395 CGGCCGTGTCCACGGCGGTCA 0.597000 5 368 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179589234 179589234 + Silent SNP C C T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr2:179589234C>T ENST00000589042.1 - 72 21092 c.20868G>A c.(20866-20868)ccG>ccA p.P6956P TTN_ENST00000591111.1_Silent_p.P6639P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.P5712P|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6639 Ig-like 51. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACCGTCATCGGTCCTGCCT 0.478000 16 36 0 0 0.004990 0 0 PGLYRP1 8993 broad.mit.edu 37 19 46526067 46526067 + Silent SNP G G A TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr19:46526067G>A ENST00000008938.4 - 1 256 c.213C>T c.(211-213)gcC>gcT p.A71A NM_005091.2 NP_005082.1 O75594 PGRP1_HUMAN peptidoglycan recognition protein 1 71 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|ovary(2) 10 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) GCTGGCACGAGGCGGGGGTGT 0.652000 9 22 0 0 0.004482 0 0 ATP9A 10079 broad.mit.edu 37 20 50256040 50256040 + Missense_Mutation SNP C C T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr20:50256040C>T ENST00000338821.5 - 15 1774 c.1510G>A c.(1510-1512)Gcc>Acc p.A504T ATP9A_ENST00000402822.1_Missense_Mutation_p.A383T|ATP9A_ENST00000311637.5_Missense_Mutation_p.A368T NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 504 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TGTACCAGGGCCACCTAAACA 0.567000 OREG0026043 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 44 0 0 0.008291 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501369 90501369 + Missense_Mutation SNP C C T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr9:90501369C>T ENST00000325643.5 + 4 2033 c.1967C>T c.(1966-1968)cCt>cTt p.P656L NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CTGCTACAGCCTGATGGGGAA 0.622000 11 68 0 0 0.010729 0 0 IGSF9 57549 broad.mit.edu 37 1 159900616 159900616 + Missense_Mutation SNP A A G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr1:159900616A>G ENST00000368094.1 - 14 1876 c.1679T>C c.(1678-1680)tTg>tCg p.L560S IGSF9_ENST00000361509.3_Missense_Mutation_p.L544S|IGSF9_ENST00000493195.1_5'UTR NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 560 Fibronectin type-III 1. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGCACTGCCAAGGACACCCA 0.617000 10 38 0 0 0.006214 0 0 PCDHGA2 0 broad.mit.edu 37 5 140720793 140720793 + Missense_Mutation SNP C C G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr5:140720793C>G ENST00000394576.2 + 1 2255 c.2255C>G c.(2254-2256)aCc>aGc p.T752S PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCTGCAGACCTATTCCCAC 0.612000 20 131 0 0 0.009535 0 0 WASH3P 0 broad.mit.edu 37 15 102515335 102515335 + RNA SNP C C G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr15:102515335C>G ENST00000557932.1 + 0 1181 p.L386V(3) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 GGAGCGAAAGCTGGAGAAGAA 0.652000 3 46 0 0 0.009096 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd 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 32 45 0 0 0.012213 0 0 C17orf53 78995 broad.mit.edu 37 17 42231994 42231994 + Missense_Mutation SNP G G A TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr17:42231994G>A ENST00000319977.4 + 6 1760 c.1523G>A c.(1522-1524)aGc>aAc p.S508N C17orf53_ENST00000245382.6_Missense_Mutation_p.S432N|C17orf53_ENST00000585683.1_Missense_Mutation_p.S507N NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 508 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) CTGACTCGGAGCACAATGGAC 0.552000 12 102 0 0 0.001855 0 0 MATK 4145 broad.mit.edu 37 19 3783831 3783831 + Missense_Mutation SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr19:3783831T>C ENST00000310132.6 - 6 961 c.563A>G c.(562-564)aAc>aGc p.N188S MATK_ENST00000585778.1_Missense_Mutation_p.N188S|MATK_ENST00000395045.2_Missense_Mutation_p.N189S|MATK_ENST00000395040.2_Missense_Mutation_p.N147S NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 188 SH2. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GTCCATGAGGTTGCAGAAGAA 0.637000 6 47 0 0 0.001984 0 0 PTPN4 5775 broad.mit.edu 37 2 120718482 120718482 + Missense_Mutation SNP G G A TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr2:120718482G>A ENST00000263708.2 + 23 3004 c.2233G>A c.(2233-2235)Ggc>Agc p.G745S PTPN4_ENST00000544261.1_Missense_Mutation_p.G378S NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 745 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity p.G745S(1) endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TTGGGAACAAGGCTCCTCTAT 0.393000 55 83 0 0 0.014410 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162379 90162379 + RNA SNP A A G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr16:90162379A>G ENST00000567960.1 + 0 1115 TUBB8P7_ENST00000564451.1_RNA TGGGAATAATACGGCCATCCA 0.522000 5 187 0 0 0.000602 0 0 CXCR2 3579 broad.mit.edu 37 2 218999633 218999633 + Missense_Mutation SNP G G A rs75759064 by1000genomes TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr2:218999633G>A ENST00000318507.2 + 3 536 c.109G>A c.(109-111)Gcc>Acc p.A37T NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 37 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 ACTAGATGCCGCCCCATGTGA 0.448000 7 212 0 0 0.001984 0 0 IGF2R 3482 broad.mit.edu 37 6 160497010 160497010 + Silent SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr6:160497010T>C ENST00000356956.1 + 36 5446 c.5298T>C c.(5296-5298)tgT>tgC p.C1766C NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1766 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CGTTTCACTGTAAGAGAGGTG 0.468000 21 159 0 0 0.010504 0 0 CUL4B 8450 broad.mit.edu 37 X 119691896 119691896 + Splice_Site SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chrX:119691896T>C ENST00000371322.5 - 2 618 c.e2-2 CUL4B_ENST00000404115.3_Splice_Site|CUL4B_ENST00000336592.6_Splice_Site NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TAGGCTTATCTAGATGATATG 0.313000 11 14 0 0 0.013537 0 0 COBL 23242 broad.mit.edu 37 7 51096959 51096959 + Missense_Mutation SNP G G A TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr7:51096959G>A ENST00000395542.2 - 12 2264 c.2080C>T c.(2080-2082)Cgt>Tgt p.R694C COBL_ENST00000265136.7_Missense_Mutation_p.R612C O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 612 p.R612C(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) AAGGCCACACGGATTCCTTTT 0.527000 20 100 0 0 0.010504 0 0 SPATA9 83890 broad.mit.edu 37 5 94994605 94994605 + Missense_Mutation SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr5:94994605T>C ENST00000274432.8 - 5 628 c.487A>G c.(487-489)Aat>Gat p.N163D RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR NM_031952.3 NP_114158.2 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 163 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) AGCACAGCATTAACACAGACT 0.348000 21 85 0 0 0.014323 0 0 DBT 1629 broad.mit.edu 37 1 100696303 100696303 + Missense_Mutation SNP G G A TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr1:100696303G>A ENST00000370132.3 - 4 432 c.419C>T c.(418-420)aCg>aTg p.T140M DBT_ENST00000370131.3_Missense_Mutation_p.T140M NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 140 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TAAAGCTTCCGTTTCTATGTC 0.328000 14 21 0 0 0.002450 0 0 ZBED4 9889 broad.mit.edu 37 22 50280050 50280050 + Missense_Mutation SNP G G A rs55681922 TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr22:50280050G>A ENST00000216268.4 + 2 3217 c.2740G>A c.(2740-2742)Gtc>Atc p.V914I NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 914 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CGAGATGTCCGTCGAGTGTAA 0.582000 13 62 0 0 0.002450 0 0 NPY1R 0 broad.mit.edu 37 4 164246627 164246627 + Missense_Mutation SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr4:164246627T>C ENST00000296533.2 - 3 1514 c.983A>G c.(982-984)cAg>cGg p.Q328R NPY1R_ENST00000509586.1_Missense_Mutation_p.Q85R NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 328 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAAGTCTCTCTGGAAGTTTTT 0.428000 25 95 0 0 0.003330 0 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 6 86 0 0 0.003080 0 0 MYO3B 140469 broad.mit.edu 37 2 171264279 171264279 + Missense_Mutation SNP G G A TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr2:171264279G>A ENST00000334231.6 + 22 2602 c.2602G>A c.(2602-2604)Gat>Aat p.D868N MYO3B_ENST00000409044.3_Missense_Mutation_p.D859N|MYO3B_ENST00000408978.4_Missense_Mutation_p.D859N|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 859 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TCTCCCTGCCGATGTGGTTGT 0.463000 6 184 0 0 0.001984 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85518209 85518209 + Missense_Mutation SNP A A G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr12:85518209A>G ENST00000393217.2 + 17 3980 c.3919A>G c.(3919-3921)Att>Gtt p.I1307V NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1307 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GGCAAGCAGTATTCCCACCAT 0.373000 7 320 0 0 0.004482 0 0 EHHADH 1962 broad.mit.edu 37 3 184910182 184910182 + Silent SNP G G A TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr3:184910182G>A ENST00000231887.3 - 7 2079 c.2004C>T c.(2002-2004)tcC>tcT p.S668S EHHADH_ENST00000456310.1_Silent_p.S572S NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 668 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) ACCCAACTGTGGAAGCATAGA 0.473000 4 71 0 0 0.009096 0 0 LATS2 26524 broad.mit.edu 37 13 21549263 21549263 + Missense_Mutation SNP C C T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr13:21549263C>T ENST00000382592.4 - 8 3418 c.3013G>A c.(3013-3015)Gta>Ata p.V1005I LATS2_ENST00000542899.1_Missense_Mutation_p.V1005I NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 1005 AGC-kinase C-terminal. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TCTTCATCTACGGGGTCGAAA 0.557000 32 154 0 0 0.013726 0 0 ATG2A 23130 broad.mit.edu 37 11 64674138 64674138 + Splice_Site SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr11:64674138T>C ENST00000421419.2 - 20 3096 c.2983_splice c.e20+1 p.R994_splice ATG2A_ENST00000377264.3_Splice_Site_p.R994_splice Q2TAZ0 ATG2A_HUMAN autophagy related 2A 994 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GCCTCACACCTCGGTGGTAGA 0.617000 13 112 0 0 0.001855 0 0 URB2 9816 broad.mit.edu 37 1 229773892 229773892 + Missense_Mutation SNP G G A TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr1:229773892G>A ENST00000258243.2 + 4 3668 c.3532G>A c.(3532-3534)Gcc>Acc p.A1178T NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1178 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TTTTCAGGCAGCCTTGCAGTT 0.498000 27 89 0 0 0.005443 0 0 KIAA0947 23379 broad.mit.edu 37 5 5466481 5466481 + Nonsense_Mutation SNP C C G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr5:5466481C>G ENST00000296564.7 + 14 6149 c.5927C>G c.(5926-5928)tCa>tGa p.S1976* NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1976 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 TCTATTCTCTCAGAACTAAAA 0.388000 7 58 0 0 0.001984 0 0 SP110 3431 broad.mit.edu 37 2 231036817 231036817 + Missense_Mutation SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr2:231036817T>C ENST00000258381.6 - 16 1857 c.1780A>G c.(1780-1782)Acc>Gcc p.T594A SP110_ENST00000358662.4_Missense_Mutation_p.T594A|AC009950.2_ENST00000594622.1_RNA NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 594 Bromo. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) CTCTCCAGGGTCTTAGATACA 0.522000 5 159 0 0 0.000602 0 0 KRT5 3852 broad.mit.edu 37 12 52913647 52913647 + Missense_Mutation SNP A A G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr12:52913647A>G ENST00000252242.4 - 1 824 c.434T>C c.(433-435)gTc>gCc p.V145A NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 145 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) ACTCTGGTTGACAGTGACCTC 0.602000 20 99 0 0 0.008871 0 0 CDK18 5129 broad.mit.edu 37 1 205492349 205492349 + Silent SNP C C T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr1:205492349C>T ENST00000360066.2 + 2 355 c.54C>T c.(52-54)ccC>ccT p.P18P CDK18_ENST00000506784.1_Silent_p.P18P|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Silent_p.P18P NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 16 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 TGTCAGTGCCCCGCACTGAGA 0.552000 40 62 0 0 0.007835 0 0 CTNNA3 29119 broad.mit.edu 37 10 69366623 69366623 + Missense_Mutation SNP C C T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr10:69366623C>T ENST00000433211.1 - 3 458 c.284G>A c.(283-285)cGc>cAc p.R95H CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 95 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 ACTTTCTTTGCGAACTTCCTC 0.423000 24 102 0 0 0.003330 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626399 1626399 + Missense_Mutation SNP T T A TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr8:1626399T>A ENST00000421627.2 + 9 2202 c.2068T>A c.(2068-2070)Tct>Act p.S690T NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 769 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TTTTAAACGTTCTAACAGCGT 0.552000 13 82 0 0 0.003163 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 3 88 0 0 0.004672 0 0 PTPN13 0 broad.mit.edu 37 4 87643480 87643480 + Silent SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr4:87643480T>C ENST00000436978.1 + 10 1981 c.1501T>C c.(1501-1503)Ttg>Ctg p.L501L PTPN13_ENST00000511467.1_Silent_p.L501L|PTPN13_ENST00000411767.2_Silent_p.L501L|PTPN13_ENST00000427191.2_Silent_p.L501L|PTPN13_ENST00000316707.6_Silent_p.L501L NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 501 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) ACAGTCTCGGTTGAGCCTATA 0.443000 20 126 0 0 0.010504 0 0 ZNF799 90576 broad.mit.edu 37 19 12501372 12501372 + Missense_Mutation SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr19:12501372T>C ENST00000419318.1 - 4 2493 c.1744A>G c.(1744-1746)Act>Gct p.T582A CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.T614A Q96GE5 ZN799_HUMAN zinc finger protein 799 614 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 CCAGTGTGAGTTTTTTTCCAG 0.408000 4 184 0 0 0.009096 0 0 SHC4 399694 broad.mit.edu 37 15 49148220 49148220 + Missense_Mutation SNP A A C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr15:49148220A>C ENST00000332408.4 - 8 1600 c.1172T>G c.(1171-1173)aTg>aGg p.M391R SHC4_ENST00000537958.1_Missense_Mutation_p.M105R|SHC4_ENST00000396535.3_Missense_Mutation_p.M148R NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 391 CH1. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) TTTGATCCGCATATCTGAAAC 0.428000 19 138 0 0 0.007413 0 0 ULK4 54986 broad.mit.edu 37 3 41795900 41795900 + Silent SNP A A G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr3:41795900A>G ENST00000301831.4 - 22 2736 c.2274T>C c.(2272-2274)taT>taC p.Y758Y NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 758 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) AAATCAAAATATATAGAAGAA 0.383000 21 114 0 0 0.012319 0 0 SCN2B 6327 broad.mit.edu 37 11 118037639 118037639 + Missense_Mutation SNP G G A rs140034265 TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr11:118037639G>A ENST00000278947.5 - 4 852 c.611C>T c.(610-612)aCg>aTg p.T204M NM_004588.4 NP_004579.1 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta subunit 204 synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 7 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) TTCACCGTCCGTCTTGCCCTC 0.602000 52 70 0 0 0.014410 0 0 ZPBP 11055 broad.mit.edu 37 7 50023024 50023024 + Missense_Mutation SNP C C T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr7:50023024C>T ENST00000046087.2 - 7 944 c.875G>A c.(874-876)gGt>gAt p.G292D ZPBP_ENST00000419417.1_Missense_Mutation_p.G291D|ZPBP_ENST00000491129.1_5'UTR NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 292 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) TTGGAGAGTACCTTCAATATA 0.353000 3 47 0 0 0.004672 0 0 TLE3 7090 broad.mit.edu 37 15 70366872 70366872 + Splice_Site SNP C C T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr15:70366872C>T ENST00000558939.1 - 6 1749 c.372_splice c.e6+1 p.G124_splice TLE3_ENST00000442299.2_Splice_Site_p.G124_splice|TLE3_ENST00000557997.1_Splice_Site_p.G124_splice|TLE3_ENST00000558379.1_Splice_Site_p.G124_splice|TLE3_ENST00000560939.1_Splice_Site_p.G130_splice|TLE3_ENST00000317509.8_Splice_Site_p.G124_splice|TLE3_ENST00000451782.2_Splice_Site_p.G124_splice|TLE3_ENST00000558201.1_Splice_Site_p.G130_splice|TLE3_ENST00000539550.1_Silent_p.G58G|TLE3_ENST00000557907.1_Splice_Site_p.G124_splice|TLE3_ENST00000559929.1_Silent_p.G124G|TLE3_ENST00000560589.1_Splice_Site_p.G68_splice|TLE3_ENST00000440567.3_Splice_Site_p.G117_splice|TLE3_ENST00000559048.1_Splice_Site_p.G130_splice|TLE3_ENST00000559191.1_Intron Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 124 Gln-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GTCCACGTACCCCGATGATGG 0.557000 4 28 0 0 0.000602 0 0 UGT1A7 0 broad.mit.edu 37 2 234591431 234591431 + Missense_Mutation SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr2:234591431T>C ENST00000373426.3 + 1 848 c.848T>C c.(847-849)gTg>gCg p.V283A UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) GGAAAGCCAGTGCCTATGGTA 0.368000 32 191 0 0 0.013726 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103056994 103056994 + Silent SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr11:103056994T>C ENST00000375735.2 + 42 6801 c.6657T>C c.(6655-6657)tcT>tcC p.S2219S DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.S2219S NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2219 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CACGAGAATCTCCTCCAGACT 0.378000 8 34 0 0 0.006214 0 0 SLC4A2 6522 broad.mit.edu 37 7 150767364 150767364 + Missense_Mutation SNP G G T TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr7:150767364G>T ENST00000485713.1 + 10 2420 c.1380G>T c.(1378-1380)gaG>gaT p.E460D SLC4A2_ENST00000392826.2_Missense_Mutation_p.E451D|SLC4A2_ENST00000413384.2_Missense_Mutation_p.E460D|SLC4A2_ENST00000461735.1_Missense_Mutation_p.E446D|SLC4A2_ENST00000310317.5_Missense_Mutation_p.E378D NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 460 LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 6; CAA27556). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGGGGCTGAGAGTGACCCCC 0.652000 10 83 9.70103e-10 1.3176e-09 0.008291 1 0 AC074391.1 0 broad.mit.edu 37 2 65738847 65738847 + RNA DEL T T - rs111377658 TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr2:65738847delT ENST00000377977.3 + 0 862 ttttTTGAAATTTTTTTTTTT 0.294 2 4 --- --- --- --- PTPRZ1 5803 broad.mit.edu 37 7 121659248 121659249 + Frame_Shift_Ins INS - - A TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr7:121659248_121659249insA ENST00000393386.2 + 13 5325_5326 c.4914_4915insA c.(4912-4917)gttaccfs p.T1639fs PTPRZ1_ENST00000449182.1_Frame_Shift_Ins_p.T779fs NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1639 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 AGAAGGCAGTTATACCCCTTGT 0.426 44 64 --- --- --- --- RP11-798G7.5 0 broad.mit.edu 37 17 43591984 43591985 + RNA INS - - G TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr17:43591984_43591985insG ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTGGGTCATGCGGAGCGAGTTT 0.411 7 90 --- --- --- --- RP5-1043L13.1 0 broad.mit.edu 37 20 58889651 58889662 + RNA DEL CATTCTCCCATT CATTCTCCCATT - rs117834183 by1000genomes TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44e94c3e-4910-440b-b21e-c0fcb9d9de16 b1a2bea4-c820-4301-ad17-0605363483bd g.chr20:58889651_58889662delCATTCTCCCATT ENST00000432910.1 + 0 332 NR_046099.1 tccatccatccattctcccattcatccatcct 0.538 4 4 --- --- --- ---