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 ANKRD19P 138649 broad.mit.edu 37 9 95646900 95646900 + RNA SNP A A T TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr9:95646900A>T ENST00000446878.1 + 0 434 ANKRD19P_ENST00000473204.1_RNA TGCTTTCACAACTGCAGAGGT 0.612000 7 130 0 0 1 0 0 OR52D1 390066 broad.mit.edu 37 11 5510364 5510364 + Missense_Mutation SNP T T A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr11:5510364T>A ENST00000322641.5 + 1 450 c.428T>A c.(427-429)gTc>gAc p.V143D HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACCATGCTGTCATAGGCAGA 0.483000 6 113 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606782 21606782 + Missense_Mutation SNP A A G TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr19:21606782A>G ENST00000392288.2 + 4 1430 c.1321A>G c.(1321-1323)Acc>Gcc p.T441A CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.T313A NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T313A(1) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATGTGGCAAAACCTTTAGTGT 0.338000 3 36 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103400017 103400017 + Silent SNP T T G TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr1:103400017T>G ENST00000358392.2 - 46 3941 c.3624A>C c.(3622-3624)ccA>ccC p.P1208P COL11A1_ENST00000353414.4_Silent_p.P1157P|COL11A1_ENST00000512756.1_Silent_p.P1080P|COL11A1_ENST00000370096.3_Silent_p.P1196P NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1196 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GAAGACCTATTGGACCAGGAG 0.468000 5 19 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38175553 38175553 + Nonsense_Mutation SNP G G T TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr8:38175553G>T ENST00000316985.3 - 10 2376 c.1859C>A c.(1858-1860)tCg>tAg p.S620* WHSC1L1_ENST00000527502.1_Intron|WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000317025.8_Intron|WHSC1L1_ENST00000525081.1_5'UTR NM_017778.2 NP_060248.2 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 620 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CCGGTCCGCCGACCCTGTGGA 0.557000 T NUP98 AML 21 23 1.87028e-06 2.00882e-06 1 1 0 CCDC40 55036 broad.mit.edu 37 17 78058656 78058656 + Missense_Mutation SNP G G A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr17:78058656G>A ENST00000397545.4 + 13 2131 c.2104G>A c.(2104-2106)Gtg>Atg p.V702M CCDC40_ENST00000374877.3_Missense_Mutation_p.V702M NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 702 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GGACCAGGACGTGAAGAAAGT 0.562000 8 22 0 0 1 0 0 WARS2 10352 broad.mit.edu 37 1 119575971 119575971 + Nonsense_Mutation SNP T T A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr1:119575971T>A ENST00000235521.4 - 6 672 c.646A>T c.(646-648)Aag>Tag p.K216* WARS2_ENST00000537870.1_Nonsense_Mutation_p.K122*|WARS2_ENST00000369426.5_3'UTR NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 216 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) GATTTTACCTTCTTCATGGAT 0.438000 17 94 0 0 1 0 0 TRAF2 7186 broad.mit.edu 37 9 139804402 139804402 + Missense_Mutation SNP T T G TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr9:139804402T>G ENST00000359662.3 + 6 760 c.715T>G c.(715-717)Tta>Gta p.L239V TRAF2_ENST00000247668.2_Missense_Mutation_p.L187V|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.L187V Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 187 Missing (in Ref. 2; BAB70792). activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) CAAGTTCCCCTTAACTTGTGA 0.627000 13 14 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 4 45 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208212983 208212983 + Missense_Mutation SNP T T C TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr1:208212983T>C ENST00000367033.3 - 24 5240 c.4483A>G c.(4483-4485)Atc>Gtc p.I1495V NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1495 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) TTGTACTCGATCTGCTGCCGG 0.582000 10 49 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504190 70504190 + Missense_Mutation SNP G G A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr1:70504190G>A ENST00000310961.5 + 22 3002 c.2584G>A c.(2584-2586)Gct>Act p.A862T LRRC7_ENST00000415775.2_Missense_Mutation_p.A141T|LRRC7_ENST00000035383.5_Missense_Mutation_p.A857T Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 857 centrosome|focal adhesion|nucleolus protein binding p.A857T(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGACAGGACCGCTTTTCCTTC 0.468000 10 39 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202619377 202619377 + Missense_Mutation SNP T T C TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr2:202619377T>C ENST00000264276.6 - 6 1861 c.1489A>G c.(1489-1491)Aga>Gga p.R497G NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 497 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 GCAGCCTTTCTTAAGAGCCTG 0.498000 11 50 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103400018 103400018 + Missense_Mutation SNP G G T TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr1:103400018G>T ENST00000358392.2 - 46 3940 c.3623C>A c.(3622-3624)cCa>cAa p.P1208Q COL11A1_ENST00000353414.4_Missense_Mutation_p.P1157Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1080Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1196Q NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1196 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AAGACCTATTGGACCAGGAGG 0.468000 5 21 1.23904e-05 1.28329e-05 1 1 0 CD163 9332 broad.mit.edu 37 12 7651662 7651662 + Missense_Mutation SNP A A T TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr12:7651662A>T ENST00000359156.4 - 4 782 c.580T>A c.(580-582)Tct>Act p.S194T CD163_ENST00000432237.2_Missense_Mutation_p.S194T|CD163_ENST00000396620.3_Missense_Mutation_p.S194T|CD163_ENST00000541972.1_Missense_Mutation_p.S182T NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 194 SRCR 2. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CAAATGACAGATGCATGATCT 0.423000 8 160 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140753701 140753701 + Silent SNP C C A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr5:140753701C>A ENST00000517434.1 + 1 51 c.51C>A c.(49-51)ctC>ctA p.L17L PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTGCTCCTCACGCTCCTGG 0.597000 3 17 0.004672 0.004672 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 61 0 0 1 0 0 VHL 7428 broad.mit.edu 37 3 10188286 10188286 + Missense_Mutation SNP C C G TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr3:10188286C>G ENST00000256474.2 + 2 1269 c.429C>G c.(427-429)gaC>gaG p.D143E VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 143 Involved in binding to CCT complex. D -> E (in VHLD; type II). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.G144fs*14(4)|p.D143E(2)|p.D143fs*16(2)|p.V142fs*30(1)|p.Q145fs*30(1)|p.D143fs*29(1)|p.N141fs*30(1)|p.S139fs*12(1)|p.G144fs*19(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) TCAATGTTGACGGACAGCCTA 0.423000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 59 59 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17111301 17111301 + Missense_Mutation SNP G G A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr11:17111301G>A ENST00000265970.7 - 32 5044 c.5045C>T c.(5044-5046)gCg>gTg p.A1682V PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A1302V NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1682 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) GTATGTTGCCGCAGTCAGCTG 0.428000 3 64 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43155495 43155496 + RNA INS - - G TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr8:43155495_43155496insG ENST00000522175.2 + 0 590 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TTCCAAGGGAAGAGCAGTGTGT 0.386 4 3 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72030395 72030395 + Frame_Shift_Del DEL G G - TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr12:72030395delG ENST00000378743.3 - 9 2333 c.1975delC c.(1975-1977)tgfs p.L659fs NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 659 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GAATTGTTCAGAACTGGAGGT 0.383 22 56 --- --- --- --- MBD3L5 284428 broad.mit.edu 37 19 7032331 7032332 + Frame_Shift_Ins INS - - A TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr19:7032331_7032332insA ENST00000329753.5 + 2 87_88 c.53_54insA c.(52-54)caafs p.Q18fs NM_001136507.1 NP_001129979.1 A6NJ08 MB3L5_HUMAN methyl-CpG binding domain protein 3-like 5 18 AAGGGGAAGCTCAAAAGAAACA 0.485 2 4 --- --- --- --- MAP3K10 4294 broad.mit.edu 37 19 40719906 40719917 + In_Frame_Del DEL CCCTCCCCACCA CCCTCCCCACCA - TCGA-QR-A70N-01A-12D-A35D-08 TCGA-QR-A70N-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffd4f038-8b57-4f33-b442-576ad662a41e 7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60 g.chr19:40719906_40719917delCCCTCCCCACCA ENST00000253055.3 + 9 2608_2619 c.2320_2331delCCCTCCCCACCA c.(2320-2331)del p.PSPP778del NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 778 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 ACCGGccgcgccctccccaccaccctccccgc 0.717 7 5 --- --- --- ---