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 CEP152 22995 broad.mit.edu 37 15 49059645 49059645 + Nonsense_Mutation SNP A A C TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr15:49059645A>C ENST00000380950.2 - 16 2221 c.2034T>G c.(2032-2034)taT>taG p.Y678* CEP152_ENST00000325747.5_Nonsense_Mutation_p.Y585*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Y678* NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 678 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GGTGCTGCTGATAAGTCCTTT 0.458000 21 33 0 0 1 0 0 SEPT2 4735 broad.mit.edu 37 2 242276830 242276830 + Silent SNP A A G TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr2:242276830A>G ENST00000391973.2 + 6 903 c.375A>G c.(373-375)caA>caG p.Q125Q SEPT2_ENST00000360051.3_Silent_p.Q125Q|SEPT2_ENST00000401990.1_Silent_p.Q135Q|SEPT2_ENST00000402092.2_Silent_p.Q125Q|SEPT2_ENST00000407971.1_Silent_p.Q85Q|SEPT2_ENST00000391971.2_Silent_p.Q125Q NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 125 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) TTGATGAGCAATTTGAGAGGT 0.398000 4 104 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940380 22940380 + Silent SNP T T C TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr19:22940380T>C ENST00000397104.3 - 5 2057 c.2058A>G c.(2056-2058)agA>agG p.R686R ZNF99_ENST00000596209.1_Silent_p.R777R zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTTATGTTTTCTAAGGGCTG 0.353000 3 23 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445820 10445820 + Silent SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr4:10445820G>A ENST00000326756.3 - 3 2571 c.2133C>T c.(2131-2133)aaC>aaT p.N711N NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 711 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.N711K(1) breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TGAGTGACACGTTGATTTCTT 0.443000 35 62 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5968953 5968953 + Missense_Mutation SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr11:5968953G>A ENST00000329564.6 + 1 384 c.377G>A c.(376-378)cGt>cAt p.R126H NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCTATGATCGTTATGTAGCC 0.458000 8 160 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682353 100682353 + Silent SNP C C A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr7:100682353C>A ENST00000306151.4 + 3 7720 c.7656C>A c.(7654-7656)atC>atA p.I2552I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2552 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) CTACTGAAATCAGTTCATCTG 0.502000 74 197 5.26073e-25 5.71818e-25 1 1 0 PDLIM5 10611 broad.mit.edu 37 4 95508146 95508146 + Silent SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr4:95508146G>A ENST00000380180.3 + 9 769 c.618G>A c.(616-618)aaG>aaA p.K206K PDLIM5_ENST00000508216.1_Silent_p.K206K|PDLIM5_ENST00000317968.4_Intron|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000450793.1_Silent_p.K206K|PDLIM5_ENST00000538141.1_Silent_p.K186K|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000380176.3_Intron|PDLIM5_ENST00000318007.5_Silent_p.K186K|PDLIM5_ENST00000437932.1_Intron NM_001011515.2 NP_001011515.1 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 0 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) ACAGGGAAAAGATACCCCTTC 0.363000 4 18 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8389278 8389278 + Missense_Mutation SNP C C T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr9:8389278C>T ENST00000381196.4 - 34 4883 c.4340G>A c.(4339-4341)cGg>cAg p.R1447Q PTPRD_ENST00000397606.3_Missense_Mutation_p.R1040Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1037Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1040Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1447Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1434Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1037Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1425Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1040Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1447Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1041Q NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1447 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGTGGCACTCCGTTGTTCCCA 0.403000 TSP Lung(15;0.13) 45 69 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 2 2 0 0 1 0 0 GNA15 2769 broad.mit.edu 37 19 3150224 3150224 + Silent SNP C C T rs143346089 byFrequency TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr19:3150224C>T ENST00000262958.3 + 3 684 c.426C>T c.(424-426)gcC>gcT p.A142A AC005264.2_ENST00000587587.1_RNA NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 142 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) GGAGGGATGCCGGCATCCGGG 0.642000 10 147 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 97 0 0 1 0 0 AGAP4 119016 broad.mit.edu 37 10 46322027 46322027 + Missense_Mutation SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr10:46322027G>A ENST00000448048.2 - 7 1453 c.1328C>T c.(1327-1329)gCc>gTc p.A443V NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 443 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1)|lung(1)|ovary(1) 3 CGACTGCAGGGCCATGGCCTT 0.577000 21 66 0 0 1 0 0 RP11-14N7.2 0 broad.mit.edu 37 1 148933357 148933357 + RNA SNP T T C TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr1:148933357T>C ENST00000539543.1 + 0 243 NR_027355.1 CAAGACCTCATCAACAATTAA 0.453000 6 30 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160482642 160482642 + Missense_Mutation SNP G G A rs8191843 TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr6:160482642G>A ENST00000356956.1 + 24 3518 c.3370G>A c.(3370-3372)Gtt>Att p.V1124I NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1124 V -> I (in dbSNP:rs8191843). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity p.V1124I(1) breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CTATTTGAGCGTTTGCAATCC 0.478000 13 148 0 0 1 0 0 ZNF568 374900 broad.mit.edu 37 19 37440962 37440962 + Missense_Mutation SNP G G C TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr19:37440962G>C ENST00000415168.1 + 5 1091 c.715G>C c.(715-717)Gag>Cag p.E239Q ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E303Q NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCATACTGGGGAGAAACCTTA 0.378000 4 40 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123780522 123780522 + Missense_Mutation SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr12:123780522G>A ENST00000420886.2 - 31 4114 c.4115C>T c.(4114-4116)gCg>gTg p.A1372V SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1372 ATP binding|DNA binding|hydrolase activity p.A1371V(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTGTTGGACCGCAAGCTGTTG 0.433000 5 221 0 0 1 0 0 IGHV4-4 0 broad.mit.edu 37 14 106478128 106478128 + RNA SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr14:106478128G>A ENST00000390596.2 - 0 393 AGTAATACACGGCCGTGTCCG 0.607000 6 338 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22382484 22382484 + Nonsense_Mutation SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr11:22382484G>A ENST00000263160.3 + 5 1052 c.615G>A c.(613-615)tgG>tgA p.W205* NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 205 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 GGAGCAAATGGGCCCCACCTC 0.478000 3 33 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110452985 110452985 + Missense_Mutation SNP A A C TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr8:110452985A>C ENST00000378402.5 + 33 4107 c.4003A>C c.(4003-4005)Atg>Ctg p.M1335L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1335 IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGTGACCAGCATGTTTCCACA 0.368000 HNSCC(38;0.096) 14 111 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368750 40368750 + Missense_Mutation SNP G G A rs141203655 by1000genomes TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr19:40368750G>A ENST00000221347.6 - 28 12605 c.12598C>T c.(12598-12600)Cgg>Tgg p.R4200W NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4200 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACGTCTACCCGCCAGTTCCAG 0.602000 8 497 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304770 102304770 + RNA SNP C C T rs62026988 by1000genomes TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr15:102304770C>T ENST00000561463.1 + 0 12816 GGCACAGCGGCGTGACGAGAC 0.592000 4 20 0 0 1 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113223466 113223466 + Splice_Site SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr13:113223466G>A ENST00000261965.3 - 2 370 c.184_splice c.e2+1 p.L62_splice TUBGCP3_ENST00000375669.3_Splice_Site_p.L62_splice NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 62 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) AAATACGTACGCTCTTTCTTG 0.413000 9 31 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152652957 152652957 + Missense_Mutation SNP C C T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr6:152652957C>T ENST00000367255.5 - 78 13464 c.12863G>A c.(12862-12864)aGa>aAa p.R4288K SYNE1_ENST00000423061.1_Missense_Mutation_p.R4217K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4153K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R4217K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4288K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4288 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGCATACTTTCTCTCCTGCAA 0.373000 HNSCC(10;0.0054) 19 50 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21820850 21820850 + Silent SNP G G T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr14:21820850G>T ENST00000216297.2 - 26 3464 c.3126C>A c.(3124-3126)ccC>ccA p.P1042P NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 1042 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TCTTTTTCTTGGGGGGTGCAG 0.483000 4 172 0.00909568 0.00909568 1 1 0 MYO7A 4647 broad.mit.edu 37 11 76873971 76873971 + Missense_Mutation SNP A A T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr11:76873971A>T ENST00000409709.3 + 14 1899 c.1627A>T c.(1627-1629)Aac>Tac p.N543Y MYO7A_ENST00000409893.1_Missense_Mutation_p.N543Y|MYO7A_ENST00000409619.2_Missense_Mutation_p.N532Y|MYO7A_ENST00000458637.2_Missense_Mutation_p.N543Y NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 543 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCCCCCCAAGAACAACCATGA 0.572000 8 153 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92731791 92731791 + Missense_Mutation SNP G G T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr7:92731791G>T ENST00000379958.2 - 3 3889 c.3620C>A c.(3619-3621)aCa>aAa p.T1207K NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1207 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AATTTGGATTGTGTAAAGCCC 0.348000 6 125 2.0095e-06 2.13776e-06 1 1 0 TACSTD2 4070 broad.mit.edu 37 1 59042487 59042487 + Missense_Mutation SNP G G T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr1:59042487G>T ENST00000371225.2 - 1 679 c.342C>A c.(340-342)ttC>ttA p.F114L NM_002353.2 NP_002344.2 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 114 Thyroglobulin type-1. cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity all_cancers(7;6.54e-05) GGCGCGCCTTGAAGCGGCCCT 0.701000 10 4 0.00621372 0.00647262 1 1 0 ATP8B2 57198 broad.mit.edu 37 1 154305093 154305093 + Splice_Site SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr1:154305093G>A ENST00000368489.3 + 9 608 c.e9-1 ATP8B2_ENST00000368487.3_Splice_Site|ATP8B2_ENST00000341822.2_Splice_Site|ATP8B2_ENST00000426445.1_Splice_Site NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGTCCTTCCAGCGAGACCAAC 0.507000 3 7 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861503 55861503 + Silent SNP C C T rs141691557 TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr11:55861503C>T ENST00000302124.2 + 1 751 c.720C>T c.(718-720)tgC>tgT p.C240C OR8I2_ENST00000560768.1_3'UTR Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) TCTCCACCTGCGCATCCCACC 0.493000 45 47 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213303168 213303168 + Missense_Mutation SNP C C A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr1:213303168C>A ENST00000366960.3 + 6 921 c.771C>A c.(769-771)gaC>gaA p.D257E RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D76E|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D245E|RPS6KC1_ENST00000490299.1_3'UTR NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 257 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AAGAAGAAGACGACTATGAAG 0.383000 4 59 0.00909568 0.00909568 1 1 0 CCDC108 255101 broad.mit.edu 37 2 219892592 219892592 + Missense_Mutation SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr2:219892592G>A ENST00000341552.5 - 13 2074 c.1991C>T c.(1990-1992)cCa>cTa p.P664L CCDC108_ENST00000441968.1_Missense_Mutation_p.P664L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P664L|CCDC108_ENST00000410037.1_Missense_Mutation_p.P599L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P653L NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 664 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCAGGCCCTGGGCAGGCACC 0.617000 16 24 0 0 1 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166466 180166466 + Missense_Mutation SNP A A T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr5:180166466A>T ENST00000307832.2 - 1 633 c.593T>A c.(592-594)aTg>aAg p.M198K NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCACAAACATCTTGGCCTC 0.517000 4 80 0 0 1 0 0 DNAJC7 7266 broad.mit.edu 37 17 40149135 40149135 + Missense_Mutation SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr17:40149135G>A ENST00000457167.4 - 3 525 c.289C>T c.(289-291)Cgg>Tgg p.R97W DNAJC7_ENST00000316603.7_Missense_Mutation_p.R41W|DNAJC7_ENST00000426588.3_Missense_Mutation_p.R41W NM_003315.3 NP_003306.3 Q99615 DNJC7_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 7 97 chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) ATACATACCCGGACAAAACTG 0.483000 3 35 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579363 55579363 + Missense_Mutation SNP C C T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr11:55579363C>T ENST00000333973.2 + 1 510 c.421C>T c.(421-423)Cgt>Tgt p.R141C NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TTGGAAGGTGCGTGTGGAGCT 0.498000 6 120 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86590761 86590761 + Missense_Mutation SNP C C T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr1:86590761C>T ENST00000370571.2 - 3 1624 c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 420 cell adhesion collagen extracellular matrix structural constituent p.E420*(1) NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCCATGAGTTCGTTAGTGTGT 0.358000 4 58 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25479281 25479281 + RNA SNP T T C TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr15:25479281T>C ENST00000453082.2 + 0 1822 NR_003343.1 GCTCAGCCCATGGTGTGCTGA 0.607000 3 39 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752563 247752563 + Missense_Mutation SNP A A T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr1:247752563A>T ENST00000320065.1 + 1 902 c.902A>T c.(901-903)aAa>aTa p.K301I RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAGGAGGTGAAAGGGGCATTA 0.368000 6 101 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889170 23889170 + Silent SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr15:23889170G>A ENST00000532292.1 - 1 2005 c.1911C>T c.(1909-1911)caC>caT p.H637H NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TGGTGGGGCCGTGGGCACTGT 0.587000 4 29 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296556 39296556 + Missense_Mutation SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr17:39296556G>A ENST00000345847.4 - 1 183 c.184C>T c.(184-186)Cgt>Tgt p.R62C NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 62 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 cagctgggacggcagcAGGTG 0.667000 4 64 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28785730 28785730 + Frame_Shift_Del DEL A A - TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr1:28785730delA ENST00000373839.3 + 3 412 c.151delA c.(151-153)aafs p.K53fs PHACTR4_ENST00000373836.3_Frame_Shift_Del_p.K63fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 53 actin binding|protein phosphatase inhibitor activity p.S64fs*12(3) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) GAAATGGAGGAAAAAAAAAAG 0.393 9 63 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 2 4 --- --- --- ---