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 ACVR2A 92 broad.mit.edu 37 2 148683679 148683679 + Silent SNP T T A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr2:148683679T>A ENST00000241416.7 + 10 1932 c.1296T>A c.(1294-1296)gtT>gtA p.V432V ACVR2A_ENST00000404590.1_Silent_p.V432V|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Silent_p.V324V NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 432 Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) AGGAAGTTGTTGTGCATAAAA 0.353000 12 184 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60483903 60483903 + Missense_Mutation SNP G G T TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr17:60483903G>T ENST00000450662.2 + 9 778 c.707G>T c.(706-708)gGc>gTc p.G236V EFCAB3_ENST00000305286.3_Missense_Mutation_p.G184V NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 184 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) TACACTATGGGCTATGGAAAA 0.408000 21 31 1.01871e-10 1.09707e-10 1 1 0 VMP1 81671 broad.mit.edu 37 17 57842439 57842439 + Silent SNP T T G TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr17:57842439T>G ENST00000262291.4 + 6 832 c.522T>G c.(520-522)acT>acG p.T174T VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000545362.1_Intron|VMP1_ENST00000537567.1_Silent_p.T40T|VMP1_ENST00000536180.1_Silent_p.T77T NM_030938.3 NP_112200.2 Q96GC9 VMP1_HUMAN vacuole membrane protein 1 174 autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 AAGAGGGCACTGAAGGAACCA 0.373000 8 86 0 0 1 0 0 YTHDF1 54915 broad.mit.edu 37 20 61834477 61834477 + Missense_Mutation SNP C C T TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr20:61834477C>T ENST00000370339.3 - 4 1156 c.815G>A c.(814-816)gGc>gAc p.G272D YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.G222D NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 272 Gln/Pro-rich. p.G90D(1)|p.G272D(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 ATCCCAGGTGCCAATGTCCAT 0.612000 55 97 0 0 1 0 0 FAM172A 83989 broad.mit.edu 37 5 92956791 92956791 + Missense_Mutation SNP T T G TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr5:92956791T>G ENST00000395965.3 - 11 1295 c.1153A>C c.(1153-1155)Att>Ctt p.I385L FAM172A_ENST00000505869.1_Missense_Mutation_p.I275L|FAM172A_ENST00000509739.1_Missense_Mutation_p.I238L|FAM172A_ENST00000509163.1_Missense_Mutation_p.I339L NM_032042.5 NP_114431.2 Q8WUF8 F172A_HUMAN family with sequence similarity 172, member A 385 endoplasmic reticulum|extracellular region endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 AATTTGAAAATAGACGGAAAG 0.577000 22 34 0 0 1 0 0 USP12 219333 broad.mit.edu 37 13 27664046 27664046 + Missense_Mutation SNP A A C TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr13:27664046A>C ENST00000282344.6 - 6 964 c.708T>G c.(706-708)tgT>tgG p.C236W NM_182488.3 NP_872294.2 O75317 UBP12_HUMAN ubiquitin specific peptidase 12 236 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) GTTTGCTGCGACACTCTTCAC 0.348000 15 34 0 0 1 0 0 ACVR2A 92 broad.mit.edu 37 2 148683678 148683678 + Missense_Mutation SNP T T G TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr2:148683678T>G ENST00000241416.7 + 10 1931 c.1295T>G c.(1294-1296)gTt>gGt p.V432G ACVR2A_ENST00000404590.1_Missense_Mutation_p.V432G|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Missense_Mutation_p.V324G NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 432 Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) CAGGAAGTTGTTGTGCATAAA 0.353000 13 183 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16959603 16959603 + RNA SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr1:16959603G>A ENST00000412962.1 - 0 74 CTGCAGTGACGCCTGCCTCAT 0.602000 4 30 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41143130 41143130 + Missense_Mutation SNP C C T TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr21:41143130C>T ENST00000380588.4 + 4 809 c.706C>T c.(706-708)Cgg>Tgg p.R236W IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 236 integral to membrane|tight junction p.R236W(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) CACTGTGATTCGGTGTCCCCA 0.468000 5 85 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188216844 188216844 + Missense_Mutation SNP G G T TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr2:188216844G>T ENST00000409998.1 - 14 1906 c.1125C>A c.(1123-1125)ttC>ttA p.F375L AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.F375L|CALCRL_ENST00000410068.1_Missense_Mutation_p.F375L|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 375 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GCCATACCTGGAAGTGCATAA 0.398000 37 32 1.22674e-20 1.34701e-20 1 1 0 RP11-93K22.13 0 broad.mit.edu 37 3 129811972 129811972 + RNA SNP G G C TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr3:129811972G>C ENST00000514010.1 - 0 157 ALG1L2_ENST00000507643.1_RNA TTGACGGACAGAACCTTCCTT 0.408000 3 85 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75183769 75183769 + Missense_Mutation SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr15:75183769G>A ENST00000352410.4 + 3 261 c.194G>A c.(193-195)cGc>cAc p.R65H MPI_ENST00000564003.1_Missense_Mutation_p.R15H|MPI_ENST00000563786.1_Missense_Mutation_p.R45H|MPI_ENST00000323744.6_Missense_Mutation_p.R65H|MPI_ENST00000562606.1_Missense_Mutation_p.R45H|MPI_ENST00000563422.1_Missense_Mutation_p.R65H|MPI_ENST00000535694.1_Missense_Mutation_p.R15H|MPI_ENST00000565576.1_Missense_Mutation_p.R65H|MPI_ENST00000566377.1_Missense_Mutation_p.R65H P34949 MPI_HUMAN mannose phosphate isomerase 65 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 CTTGACAACCGCATCTCACAG 0.552000 4 152 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67700007 67700007 + Silent SNP A A T TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr12:67700007A>T ENST00000545606.1 + 10 2996 c.2559A>T c.(2557-2559)ggA>ggT p.G853G NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 853 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) ACTTAAGTGGACAGTTGGAAC 0.398000 24 89 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77473215 77473215 + Missense_Mutation SNP A A T TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr15:77473215A>T ENST00000560626.2 - 4 1529 c.1054T>A c.(1054-1056)Tca>Aca p.S352T PEAK1_ENST00000312493.4_Missense_Mutation_p.S352T|PEAK1_ENST00000558305.1_Missense_Mutation_p.S352T Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 352 Ser-rich. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TCAGAACGTGATTCTTCTGTT 0.428000 39 37 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133980108 133980108 + Missense_Mutation SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr8:133980108G>A ENST00000220616.4 + 31 5796 c.5756G>A c.(5755-5757)tGc>tAc p.C1919Y TG_ENST00000519543.1_Missense_Mutation_p.C73Y|TG_ENST00000377869.1_Missense_Mutation_p.C1862Y|TG_ENST00000542445.1_Missense_Mutation_p.C289Y NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1919 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) TACTTCACCTGCACCCTCTAC 0.527000 4 27 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8174609 8174609 + Missense_Mutation SNP G G T TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr19:8174609G>T ENST00000600128.1 - 35 4776 c.4362C>A c.(4360-4362)aaC>aaA p.N1454K FBN3_ENST00000601739.1_Missense_Mutation_p.N1454K|FBN3_ENST00000270509.2_Missense_Mutation_p.N1454K Q75N90 FBN3_HUMAN fibrillin 3 1454 EGF-like 23; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CGTTGATGCAGTTTACTGGGT 0.622000 82 114 4.69036e-40 5.2532e-40 1 1 0 PNLIP 5406 broad.mit.edu 37 10 118320020 118320020 + Nonsense_Mutation SNP C C T TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr10:118320020C>T ENST00000369221.2 + 11 1181 c.1153C>T c.(1153-1155)Cag>Tag p.Q385* NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 385 PLAT. lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AAACTCTAAGCAGTATGAAAT 0.383000 24 31 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58559097 58559097 + Missense_Mutation SNP T T A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr16:58559097T>A ENST00000317147.5 - 46 7102 c.6770A>T c.(6769-6771)gAc>gTc p.D2257V CNOT1_ENST00000569240.1_Missense_Mutation_p.D2252V|CNOT1_ENST00000245138.4_Missense_Mutation_p.D1108V NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2257 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGTGTCCAAGTCCACAGCCAA 0.463000 35 52 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55130850 55130850 + Translation_Start_Site SNP T T G TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr1:55130850T>G ENST00000409996.1 + 0 172 MROH7_ENST00000395690.2_Missense_Mutation_p.D414E|MROH7_ENST00000339553.5_Missense_Mutation_p.D414E|MROH7_ENST00000545244.1_De_novo_Start_OutOfFrame|MROH7_ENST00000414150.2_Missense_Mutation_p.D414E|MROH7_ENST00000421030.2_Missense_Mutation_p.D414E|MROH7_ENST00000454855.2_De_novo_Start_InFrame maestro heat-like repeat family member 7 GAGCCTTTGATGAAGTGACCT 0.542000 10 27 0 0 1 0 0 ZNF639 51193 broad.mit.edu 37 3 179051242 179051242 + Missense_Mutation SNP C C A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr3:179051242C>A ENST00000326361.3 + 7 935 c.490C>A c.(490-492)Caa>Aaa p.Q164K ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.Q164K|ZNF639_ENST00000484866.1_Missense_Mutation_p.Q164K NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 164 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TGAGAGTCTCCAAGACCAAAC 0.418000 3 54 0.115264 0.115264 1 1 0 SCN5A 6331 broad.mit.edu 37 3 38592256 38592256 + Silent SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr3:38592256G>A ENST00000413689.1 - 28 5800 c.5607C>T c.(5605-5607)gaC>gaT p.D1869D SCN5A_ENST00000423572.2_Silent_p.D1868D|SCN5A_ENST00000451551.2_Silent_p.D1815D|SCN5A_ENST00000333535.4_Silent_p.D1869D|SCN5A_ENST00000450102.2_Silent_p.D1815D|SCN5A_ENST00000449557.2_Silent_p.D1815D|SCN5A_ENST00000443581.1_Silent_p.D1868D|SCN5A_ENST00000425664.1_Silent_p.D1851D|SCN5A_ENST00000414099.2_Silent_p.D1851D|SCN5A_ENST00000455624.2_Silent_p.D1836D NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1869 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCTTCAGGGCGTCCATCTCCC 0.572000 4 86 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66480267 66480267 + Missense_Mutation SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr5:66480267G>A ENST00000256447.4 - 3 561 c.404C>T c.(403-405)aCg>aTg p.T135M NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 135 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) GGATATTCCCGTTTGGATTAA 0.403000 95 139 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 3 51 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3984159 3984159 + Nonsense_Mutation SNP C C A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr19:3984159C>A ENST00000309311.6 - 2 281 c.193G>T c.(193-195)Gag>Tag p.E65* EEF2_ENST00000600720.1_5'UTR NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 65 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) ATGCAACGCTCCTGCTCGTCC 0.657000 23 42 1.85244e-09 1.9573e-09 1 1 0 KIF22 3835 broad.mit.edu 37 16 29816582 29816582 + Splice_Site SNP A A T TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr16:29816582A>T ENST00000561482.1 + 14 2383 c.e14-1 KIF22_ENST00000160827.4_Splice_Site|KIF22_ENST00000400751.5_Splice_Site|KIF22_ENST00000569382.2_Splice_Site NM_001256270.1 NP_001243199.1 Q14807 KIF22_HUMAN kinesin family member 22 blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 CCTGTGTTGCAGGCAAACATC 0.622000 7 220 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682921 100682921 + Nonsense_Mutation SNP C C T rs148241944 TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr7:100682921C>T ENST00000306151.4 + 3 8288 c.8224C>T c.(8224-8226)Cga>Tga p.R2742* NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2742 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCGAATCTCAAC 0.502000 6 448 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150770053 150770053 + Splice_Site SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chrX:150770053G>A ENST00000370357.4 + 2 273 c.28_splice c.e2+1 p.D10_splice NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 10 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AAAGAGAAGAGGTATGCATTC 0.428000 3 52 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73834139 73834139 + Missense_Mutation SNP G G C rs147709320 TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr11:73834139G>C ENST00000334126.7 - 8 1485 c.1259C>G c.(1258-1260)tCt>tGt p.S420C C2CD3_ENST00000313663.7_Missense_Mutation_p.S420C Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 420 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) ATCTGGAGGAGAGCCTAGCCC 0.418000 17 31 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158627401 158627401 + Nonsense_Mutation SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr1:158627401G>A ENST00000368148.3 - 19 2851 c.2671C>T c.(2671-2673)Cga>Tga p.R891* SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R891* NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 891 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R891*(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCATTTTGTCGCCTAGCAGCT 0.463000 56 77 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296415 20296415 + Missense_Mutation SNP G G C TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr14:20296415G>C ENST00000315947.1 + 1 808 c.808G>C c.(808-810)Gtg>Ctg p.V270L OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGCTGACAAGGTGGTTTCTCT 0.443000 4 254 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124802839 124802839 + Silent SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr3:124802839G>A ENST00000423114.2 - 14 2126 c.2127C>T c.(2125-2127)gaC>gaT p.D709D SLC12A8_ENST00000314584.7_Silent_p.D341D|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Silent_p.D481D|SLC12A8_ENST00000393469.4_Silent_p.D680D|SLC12A8_ENST00000469902.1_Silent_p.D680D A0AV02 S12A8_HUMAN solute carrier family 12, member 8 680 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 TCATCTCCATGTCAACCTTAG 0.582000 7 9 0 0 1 0 0 HOPX 84525 broad.mit.edu 37 4 57522053 57522053 + Silent SNP G G C TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr4:57522053G>C ENST00000554144.1 - 3 702 c.168C>G c.(166-168)gcC>gcG p.A56A HOPX_ENST00000556376.2_Silent_p.A38A|HOPX_ENST00000553379.2_Silent_p.A38A|HOPX_ENST00000317745.7_Silent_p.A38A|HOPX_ENST00000337881.7_Silent_p.A38A|HOPX_ENST00000381255.3_Silent_p.A38A|HOPX_ENST00000381260.3_Silent_p.A38A|HOPX_ENST00000508121.1_Silent_p.A56A|HOPX_ENST00000420433.1_Silent_p.A56A|HOPX_ENST00000503639.3_Silent_p.A38A|HOPX_ENST00000555760.2_Silent_p.A38A|HOPX_ENST00000556614.2_Silent_p.A38A NM_001145460.1 NP_001138932.1 Q9BPY8 HOP_HUMAN HOP homeobox 38 negative regulation of cell differentiation|trophectodermal cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(5)|skin(1) 8 Glioma(25;0.08)|all_neural(26;0.101) GGCCTGCCTCGGCCGCGATGA 0.687000 5 14 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 3 52 0 0 1 0 0 ANXA10 11199 broad.mit.edu 37 4 169060678 169060678 + Missense_Mutation SNP T T G TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr4:169060678T>G ENST00000359299.3 + 3 328 c.142T>G c.(142-144)Tgc>Ggc p.C48G NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 48 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) GACTCAGCGCTGCAATGCACA 0.413000 23 20 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73477945 73477945 + Missense_Mutation SNP C C T TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr9:73477945C>T ENST00000377110.2 - 3 584 c.341G>A c.(340-342)cGc>cAc p.R114H TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.R116H|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000377111.2_Missense_Mutation_p.R114H|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000423814.3_Missense_Mutation_p.R116H|TRPM3_ENST00000377105.1_5'UTR NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 114 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TCGGGAGAGGCGACTTTCATT 0.498000 39 55 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128724236 128724236 + Missense_Mutation SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chrX:128724236G>A ENST00000371113.4 + 24 2860 c.2695G>A c.(2695-2697)Gaa>Aaa p.E899K OCRL_ENST00000357121.5_Missense_Mutation_p.E891K NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 899 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 GCTTGGGAGCGAAGAAGACTA 0.478000 13 138 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 44 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81971363 81971363 + Splice_Site SNP A A G TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr16:81971363A>G ENST00000359376.3 + 28 3267 c.3052_splice c.e28-1 p.D1018_splice NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 1018 PI-PLC Y-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TCCTTCCCAGATAAGTACATG 0.517000 21 48 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7578701 7578701 + Missense_Mutation SNP C C T TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr6:7578701C>T ENST00000379802.3 + 22 3331 c.2990C>T c.(2989-2991)gCa>gTa p.A997V DSP_ENST00000418664.2_Missense_Mutation_p.A997V NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 997 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCCAAGGCTGCAGATGTTCAT 0.333000 10 103 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 482774 482774 + Silent SNP G G A rs143761751 TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr5:482774G>A ENST00000264938.3 - 7 1254 c.1245C>T c.(1243-1245)cgC>cgT p.R415R SLC9A3_ENST00000514375.1_Silent_p.R415R NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 415 cell surface|integral to membrane sodium:hydrogen antiporter activity p.R415R(2) NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CCACGGCCCCGCGCAGGCCCC 0.612000 9 16 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 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 77 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46515257 46515257 + Splice_Site SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr11:46515257G>A ENST00000458649.2 - 11 2840 c.2420_splice c.e11-1 p.R808_splice AMBRA1_ENST00000426438.1_Splice_Site_p.R779_splice|AMBRA1_ENST00000528950.1_Splice_Site_p.R779_splice|AMBRA1_ENST00000534300.1_Splice_Site_p.R748_splice|AMBRA1_ENST00000533727.1_Splice_Site_p.R689_splice|AMBRA1_ENST00000298834.3_Splice_Site_p.R748_splice|AMBRA1_ENST00000314845.3_Splice_Site_p.R718_splice|AMBRA1_ENST00000529963.1_5'UTR Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 808 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) AGCAAGAAACGCCTACAAGAA 0.468000 9 8 0 0 1 0 0 HIST1H4D 8360 broad.mit.edu 37 6 26189197 26189197 + Silent SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr6:26189197G>A ENST00000340756.2 - 1 107 c.108C>T c.(106-108)cgC>cgT p.R36R NM_003539.3 NP_003530.1 P62805 H4_HUMAN histone cluster 1, H4d 36 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1) 8 all_hematologic(11;0.196) GAGCCAGGCGGCGGATAGCGG 0.567000 40 45 0 0 1 0 0 GRIA4 0 broad.mit.edu 37 11 105845043 105845043 + Missense_Mutation SNP A A G TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr11:105845043A>G ENST00000393127.2 + 16 2862 c.2416A>G c.(2416-2418)Acg>Gcg p.T806A GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.T806A|GRIA4_ENST00000530497.1_Missense_Mutation_p.T806A|GRIA4_ENST00000282499.5_Missense_Mutation_p.T806A NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 806 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CTAGGACAAGACGAGTGCCTT 0.443000 4 160 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105344279 105344279 + Missense_Mutation SNP G G A TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr14:105344279G>A ENST00000453495.1 + 4 481 c.253G>A c.(253-255)Gat>Aat p.D85N CEP170B_ENST00000414716.3_Missense_Mutation_p.D85N|CEP170B_ENST00000418279.1_Missense_Mutation_p.D15N|CEP170B_ENST00000556508.1_Missense_Mutation_p.D15N centrosomal protein 170B GAAGCTCAACGATGTCATCCG 0.612000 8 7 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 4 215 0.00909568 0.00926106 1 1 0 SIGLEC10 89790 broad.mit.edu 37 19 51920435 51920435 + Missense_Mutation SNP C C T TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr19:51920435C>T ENST00000353836.5 - 2 543 c.322G>A c.(322-324)Gcg>Acg p.A108T SIGLEC10_ENST00000356298.5_Missense_Mutation_p.A108T|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.A108T|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.A108T|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.A108T|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.A108T NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 108 Ig-like V-type. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) TGCATCTGCGCGTCTCTGATC 0.517000 25 47 0 0 1 0 0 SCARB2 950 broad.mit.edu 37 4 77084530 77084530 + Missense_Mutation SNP G G C TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr4:77084530G>C ENST00000264896.2 - 11 1595 c.1246C>G c.(1246-1248)Cac>Gac p.H416D SCARB2_ENST00000452464.2_Missense_Mutation_p.H273D NM_005506.3 NP_005497.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 416 cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22 Lung(101;0.196) TTATCAATGTGAACACTCTGG 0.383000 24 50 0 0 1 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452511 43452512 + Frame_Shift_Ins INS - - CC TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr2:43452511_43452512insCC ENST00000282388.3 - 2 724_725 c.431_432insGG c.(430-432)gggfs p.G144fs THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 144 Poly-Gly. cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GGGAGCCGCCGCCCCCCTTCTG 0.639 11 7 --- --- --- --- PPP2CA 5515 broad.mit.edu 37 5 133536761 133536761 + Frame_Shift_Del DEL A A - TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr5:133536761delA ENST00000481195.1 - 4 771 c.491delT c.(490-492)tcfs p.F164fs NM_002715.2 NP_002706.1 protein phosphatase 2, catalytic subunit, alpha isozyme endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGTAGACAGAAGATCTGAAA 0.423 50 73 --- --- --- --- DST 667 broad.mit.edu 37 6 56600056 56600056 + Frame_Shift_Del DEL A A - TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr6:56600056delA ENST00000370754.5 - 5 656 c.657delT c.(655-657)ttfs p.F219fs DST_ENST00000421834.2_Frame_Shift_Del_p.F41fs|DST_ENST00000370788.2_Frame_Shift_Del_p.F41fs|DST_ENST00000361203.3_Frame_Shift_Del_p.F41fs|DST_ENST00000312431.6_Frame_Shift_Del_p.F41fs|DST_ENST00000370769.4_Frame_Shift_Del_p.F41fs Q03001 DYST_HUMAN dystonin 41 Actin-binding.|CH 2. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCCATTTTGTAAATGTTTTCT 0.299 2 4 --- --- --- --- AMBRA1 55626 broad.mit.edu 37 11 46564154 46564155 + Frame_Shift_Ins INS - - C TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr11:46564154_46564155insC ENST00000458649.2 - 7 1830_1831 c.1412_1413insG c.(1411-1413)gttfs p.V471fs AMBRA1_ENST00000528950.1_Frame_Shift_Ins_p.V471fs|AMBRA1_ENST00000314845.3_Frame_Shift_Ins_p.V381fs|AMBRA1_ENST00000426438.1_Frame_Shift_Ins_p.V471fs|AMBRA1_ENST00000534300.1_Frame_Shift_Ins_p.V471fs|AMBRA1_ENST00000533727.1_Frame_Shift_Ins_p.V381fs|AMBRA1_ENST00000298834.3_Frame_Shift_Ins_p.V471fs Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 471 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) ATGCCGGAAAACCCCTCCCTTC 0.559 49 71 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-KK-A7AZ-01A-12D-A32B-08 TCGA-KK-A7AZ-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f1c7f2a-40c5-45f3-8d16-a57db576d7a8 264de6e7-6977-404f-94eb-1bfbedd5a1e7 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 3 4 --- --- --- ---