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 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 32 108 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74039961 74039961 + Silent SNP T T C TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr17:74039961T>C ENST00000307877.2 - 13 1634 c.1473A>G c.(1471-1473)aaA>aaG p.K491K SRP68_ENST00000539137.1_Silent_p.K453K|SRP68_ENST00000355113.5_Silent_p.K390K|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000602720.1_Silent_p.K152K NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 491 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 CATTTGCATATTTCAGGACTC 0.488000 12 28 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62730072 62730072 + Missense_Mutation SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr20:62730072G>A ENST00000349451.3 + 6 1445 c.1033G>A c.(1033-1035)Gtg>Atg p.V345M OPRL1_ENST00000355631.4_Missense_Mutation_p.V345M|OPRL1_ENST00000336866.2_Missense_Mutation_p.V345M NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 345 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GGACGTGCAGGTGTCTGACCG 0.637000 23 55 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378013 55378013 + Missense_Mutation SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr19:55378013G>A ENST00000326321.3 + 9 1228 c.1195G>A c.(1195-1197)Gca>Aca p.A399T KIR3DL2_ENST00000270442.5_Missense_Mutation_p.A382T|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.A399T NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 399 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GGTGACGTACGCACAGTTGGA 0.502000 12 246 0 0 1 0 0 C17orf76-AS1 0 broad.mit.edu 37 17 16342533 16342533 + RNA SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr17:16342533G>A ENST00000475953.1 + 0 175 C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA NR_027667.1 GCGCCCGCGTGGCTTTCGCGG 0.682000 5 99 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179306124 179306124 + Missense_Mutation SNP C C T TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr5:179306124C>T ENST00000356834.3 - 9 1527 c.1490G>A c.(1489-1491)cGc>cAc p.R497H TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R497H NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 497 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTGGCTGTGCGGTACATGCA 0.617000 3 30 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190876274 190876274 + Missense_Mutation SNP C C G TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr4:190876274C>G ENST00000226798.4 + 5 622 c.400C>G c.(400-402)Cca>Gca p.P134A FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 134 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TGCAATTGGACCAAGAGAACA 0.358000 3 39 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195701304 195701304 + RNA SNP C C T TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr3:195701304C>T ENST00000427841.1 - 0 1520 NR_003264.2 AGGGCACATGCCTGACCAGAC 0.572000 4 51 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92844905 92844905 + Missense_Mutation SNP C C T TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr7:92844905C>T ENST00000394468.2 - 3 601 c.524G>A c.(523-525)gGc>gAc p.G175D HEPACAM2_ENST00000341723.4_Missense_Mutation_p.G163D|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.G163D|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.G198D NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 175 Ig-like C2-type 1. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TAGCCGAGTGCCCCCTTCCAC 0.517000 3 47 0 0 1 0 0 ATL2 64225 broad.mit.edu 37 2 38525479 38525479 + Missense_Mutation SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr2:38525479G>A ENST00000378954.4 - 12 1440 c.1439C>T c.(1438-1440)gCg>gTg p.A480V ATL2_ENST00000406122.1_Missense_Mutation_p.A309V|ATL2_ENST00000419554.2_Missense_Mutation_p.A480V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V|ATL2_ENST00000452935.2_Missense_Mutation_p.A462V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V|ATL2_ENST00000332337.4_Missense_Mutation_p.A462V|ATL2_ENST00000402054.1_Missense_Mutation_p.A309V NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 480 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 AAACATGACCGCAAACAGTGT 0.408000 3 49 0 0 1 0 0 CELA1 1990 broad.mit.edu 37 12 51736471 51736471 + Missense_Mutation SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr12:51736471G>A ENST00000293636.1 - 4 254 c.214C>T c.(214-216)Cgc>Tgc p.R72C NM_001971.5 NP_001962.3 Q9UNI1 CELA1_HUMAN chymotrypsin-like elastase family, member 1 72 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 GCCACCACGCGGAAAGTCTTC 0.498000 3 51 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224547 77224547 + Missense_Mutation SNP C C G rs148072662 TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chrX:77224547C>G ENST00000458128.1 - 1 588 c.589G>C c.(589-591)Gtg>Ctg p.V197L ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 197 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 AGACCCTCCACATGCTTGGCA 0.507000 4 81 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 32 108 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 6 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74039961 74039961 + Silent SNP T T C TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr17:74039961T>C ENST00000307877.2 - 13 1634 c.1473A>G c.(1471-1473)aaA>aaG p.K491K SRP68_ENST00000355113.5_Silent_p.K390K|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000602720.1_Silent_p.K152K|SRP68_ENST00000539137.1_Silent_p.K453K NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 491 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 CATTTGCATATTTCAGGACTC 0.488000 12 28 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62730072 62730072 + Missense_Mutation SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr20:62730072G>A ENST00000349451.3 + 6 1445 c.1033G>A c.(1033-1035)Gtg>Atg p.V345M OPRL1_ENST00000355631.4_Missense_Mutation_p.V345M|OPRL1_ENST00000336866.2_Missense_Mutation_p.V345M NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 345 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GGACGTGCAGGTGTCTGACCG 0.637000 23 55 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 53 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058322 11058322 + RNA SNP C C T TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr21:11058322C>T ENST00000470054.1 - 0 325 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) AAATGCACATCGCTGAAAGGG 0.383000 9 97 0 0 1 0 0 C17orf76-AS1 0 broad.mit.edu 37 17 16342533 16342533 + RNA SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr17:16342533G>A ENST00000475953.1 + 0 175 C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA NR_027667.1 GCGCCCGCGTGGCTTTCGCGG 0.682000 5 99 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179306124 179306124 + Missense_Mutation SNP C C T TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr5:179306124C>T ENST00000356834.3 - 9 1527 c.1490G>A c.(1489-1491)cGc>cAc p.R497H TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R497H NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 497 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTGGCTGTGCGGTACATGCA 0.617000 3 30 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378013 55378013 + Missense_Mutation SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr19:55378013G>A ENST00000326321.3 + 9 1228 c.1195G>A c.(1195-1197)Gca>Aca p.A399T KIR3DL2_ENST00000270442.5_Missense_Mutation_p.A382T|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.A399T NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 399 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GGTGACGTACGCACAGTTGGA 0.502000 12 246 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190876274 190876274 + Missense_Mutation SNP C C G TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr4:190876274C>G ENST00000226798.4 + 5 622 c.400C>G c.(400-402)Cca>Gca p.P134A FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 134 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TGCAATTGGACCAAGAGAACA 0.358000 3 39 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 3 40 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 15 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92844905 92844905 + Missense_Mutation SNP C C T TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr7:92844905C>T ENST00000394468.2 - 3 601 c.524G>A c.(523-525)gGc>gAc p.G175D HEPACAM2_ENST00000453812.2_Missense_Mutation_p.G198D|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.G163D|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.G163D NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 175 Ig-like C2-type 1. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TAGCCGAGTGCCCCCTTCCAC 0.517000 3 47 0 0 1 0 0 ATL2 64225 broad.mit.edu 37 2 38525479 38525479 + Missense_Mutation SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr2:38525479G>A ENST00000378954.4 - 12 1440 c.1439C>T c.(1438-1440)gCg>gTg p.A480V ATL2_ENST00000406122.1_Missense_Mutation_p.A309V|ATL2_ENST00000402054.1_Missense_Mutation_p.A309V|ATL2_ENST00000332337.4_Missense_Mutation_p.A462V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V|ATL2_ENST00000419554.2_Missense_Mutation_p.A480V|ATL2_ENST00000452935.2_Missense_Mutation_p.A462V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 480 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 AAACATGACCGCAAACAGTGT 0.408000 3 49 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 3 52 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224547 77224547 + Missense_Mutation SNP C C G rs148072662 TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chrX:77224547C>G ENST00000458128.1 - 1 588 c.589G>C c.(589-591)Gtg>Ctg p.V197L ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 197 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 AGACCCTCCACATGCTTGGCA 0.507000 4 81 0 0 1 0 0 CELA1 1990 broad.mit.edu 37 12 51736471 51736471 + Missense_Mutation SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr12:51736471G>A ENST00000293636.1 - 4 254 c.214C>T c.(214-216)Cgc>Tgc p.R72C NM_001971.5 NP_001962.3 Q9UNI1 CELA1_HUMAN chymotrypsin-like elastase family, member 1 72 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 GCCACCACGCGGAAAGTCTTC 0.498000 3 51 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134031904 134031907 + Frame_Shift_Del DEL TTGT TTGT - TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr8:134031904_134031907delTTGT ENST00000220616.4 + 39 6880_6883 c.6840_6843delTTGT c.(6838-6843)gafs p.DC2280fs TG_ENST00000519543.1_Frame_Shift_Del_p.DC413fs|TG_ENST00000377869.1_Frame_Shift_Del_p.DC2223fs|TG_ENST00000542445.1_Frame_Shift_Del_p.DC650fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2280 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCAGTGAAGATTGTTTGTATCTCA 0.505 10 69 --- --- --- --- PPP6R2 9701 broad.mit.edu 37 22 50876653 50876655 + In_Frame_Del DEL TGA TGA - TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr22:50876653_50876655delTGA ENST00000359139.3 + 17 2203_2205 c.1809_1811delTGA c.(1807-1812)ttt>tt p.FD603del PPP6R2_ENST00000395741.3_In_Frame_Del_p.FD604del|PPP6R2_ENST00000395744.3_In_Frame_Del_p.FD603del|PPP6R2_ENST00000216061.5_In_Frame_Del_p.FD630del NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 630 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 TCCAGCCCTTTGATGATGATGAG 0.616 55 93 --- --- --- --- TG 7038 broad.mit.edu 37 8 134031904 134031907 + Frame_Shift_Del DEL TTGT TTGT - TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr8:134031904_134031907delTTGT ENST00000220616.4 + 39 6880_6883 c.6840_6843delTTGT c.(6838-6843)gafs p.DC2280fs TG_ENST00000542445.1_Frame_Shift_Del_p.DC650fs|TG_ENST00000377869.1_Frame_Shift_Del_p.DC2223fs|TG_ENST00000519543.1_Frame_Shift_Del_p.DC413fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2280 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCAGTGAAGATTGTTTGTATCTCA 0.505 10 69 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320135 90320146 + In_Frame_Del DEL GGGCAGGGGCAG GGGCAGGGGCAG - rs56192595 by1000genomes TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr15:90320135_90320146delGGGCAGGGGCAG ENST00000341735.3 + 1 547_558 c.547_558delGGGCAGGGGCAG c.(547-558)del p.GQGQ199del MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 199 13 X 2 AA tandem repeats of G-Q. Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) gcaggggcaagggcaggggcaggggcaggggc 0.783 3 5 --- --- --- --- PPP6R2 9701 broad.mit.edu 37 22 50876653 50876655 + In_Frame_Del DEL TGA TGA - TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr22:50876653_50876655delTGA ENST00000359139.3 + 17 2203_2205 c.1809_1811delTGA c.(1807-1812)ttt>tt p.FD603del PPP6R2_ENST00000395741.3_In_Frame_Del_p.FD604del|PPP6R2_ENST00000395744.3_In_Frame_Del_p.FD603del|PPP6R2_ENST00000216061.5_In_Frame_Del_p.FD630del NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 630 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 TCCAGCCCTTTGATGATGATGAG 0.616 55 93 --- --- --- ---