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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 221 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142268455 142268455 + Missense_Mutation SNP G G C TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr3:142268455G>C ENST00000350721.4 - 15 3158 c.3037C>G c.(3037-3039)Ctc>Gtc p.L1013V ATR_ENST00000383101.3_Missense_Mutation_p.L949V NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1013 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GTTCGAATGAGAGCAGAAGCT 0.343000 Other conserved DNA damage response genes 27 50 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 141 0 0 1 0 0 NUFIP2 57532 broad.mit.edu 37 17 27620945 27620945 + Missense_Mutation SNP G G T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr17:27620945G>T ENST00000225388.4 - 1 191 c.133C>A c.(133-135)Cac>Aac p.H45N NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 45 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtggtggttgtggctg 0.587000 6 220 0.0215528 0.0221353 1 1 0 CCKBR 887 broad.mit.edu 37 11 6292023 6292023 + Silent SNP C C T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr11:6292023C>T ENST00000525462.1 + 4 804 c.801C>T c.(799-801)ggC>ggT p.G267G CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Silent_p.G183G|CCKBR_ENST00000334619.2_Silent_p.G267G P32239 GASR_HUMAN cholecystokinin B receptor 218 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GAAACCAAGGCGGGCTGCCAG 0.632000 5 73 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 5 431 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 74124146 74124146 + Silent SNP G G A TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr4:74124146G>A ENST00000358602.4 - 1 356 c.240C>T c.(238-240)tgC>tgT p.C80C ANKRD17_ENST00000330838.6_Silent_p.C80C NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 80 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGGGGGGTCGGCAAGTCCGGT 0.692000 3 42 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969464 140969464 + Missense_Mutation SNP T T A TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chrX:140969464T>A ENST00000298296.1 + 4 791 c.791T>A c.(790-792)cTg>cAg p.L264Q MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 264 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GAGGGGAGTCTGAGTGATGAG 0.478000 5 199 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35989984 35989984 + Splice_Site SNP A A T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chrX:35989984A>T ENST00000297866.5 + 13 2223 c.e13-1 NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GATTTTTTACAGGTTCTCAAA 0.323000 13 1 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 134 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 96 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16959603 16959603 + RNA SNP G G A TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr1:16959603G>A ENST00000412962.1 - 0 74 CTGCAGTGACGCCTGCCTCAT 0.602000 12 94 0 0 1 0 0 GALNT12 79695 broad.mit.edu 37 9 101589093 101589093 + Missense_Mutation SNP C C A TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr9:101589093C>A ENST00000375011.3 + 3 601 c.601C>A c.(601-603)Cgc>Agc p.R201S NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 201 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) GCGCCTGATCCGCGCCAACAA 0.627000 3 40 1 1 1 1 0 NDFIP2 54602 broad.mit.edu 37 13 80107511 80107511 + Missense_Mutation SNP A A T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr13:80107511A>T ENST00000218652.7 + 3 593 c.541A>T c.(541-543)Acc>Tcc p.T181S NM_001161407.1|NM_019080.2 NP_001154879.1|NP_061953.2 Q9NV92 NFIP2_HUMAN Nedd4 family interacting protein 2 181 negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm signal transducer activity|WW domain binding NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1) 14 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0196) TAGCGTTGCTACCTCTCTTCC 0.383000 35 58 0 0 1 0 0 KCTD7 154881 broad.mit.edu 37 7 66262494 66262494 + Splice_Site SNP G G A TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr7:66262494G>A ENST00000380828.2 + 8 1002 c.e8+1 RABGEF1_ENST00000439720.2_Splice_Site|RABGEF1_ENST00000484547.2_Splice_Site|RABGEF1_ENST00000284957.5_Splice_Site|RABGEF1_ENST00000437078.2_Splice_Site|KCTD7_ENST00000510829.2_Splice_Site|KCTD7_ENST00000451741.2_Splice_Site|RABGEF1_ENST00000450873.2_Splice_Site Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 AGAGAATCAGGTAGTTGCTTA 0.363000 4 85 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53670431 53670431 + Missense_Mutation SNP G G T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr12:53670431G>T ENST00000257934.4 + 8 1819 c.1728G>T c.(1726-1728)tgG>tgT p.W576C ESPL1_ENST00000552462.1_Missense_Mutation_p.W576C NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 576 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 TCAGTGGCTGGGACCCGGAGA 0.632000 17 29 4.75885e-15 5.47989e-15 1 1 0 IFNL3 282617 broad.mit.edu 37 19 39735525 39735525 + Missense_Mutation SNP C C T rs629976 by1000genomes TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr19:39735525C>T ENST00000413851.2 - 1 121 c.83G>A c.(82-84)cGc>cAc p.R28H NM_172139.2 NP_742151.2 interferon, lambda 3 GAGAGCCCCGCGGAGCCTGGC 0.612000 6 158 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 6 58 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 51 0 0 1 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45716591 45716591 + Silent SNP G G A TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr19:45716591G>A ENST00000413988.1 - 10 1006 c.966C>T c.(964-966)ctC>ctT p.L322L EXOC3L2_ENST00000252482.3_Silent_p.L322L|AC006126.3_ENST00000591569.1_Intron NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 322 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) CACGGATGTCGAGGAGGGCTG 0.672000 44 89 0 0 1 0 0 SP4 6671 broad.mit.edu 37 7 21469309 21469309 + Missense_Mutation SNP G G C TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr7:21469309G>C ENST00000222584.3 + 3 744 c.526G>C c.(526-528)Ggt>Cgt p.G176R NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 176 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 GACAGTGGAAGGTCAACAAAT 0.388000 6 110 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117922266 117922266 + Missense_Mutation SNP G G A TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr12:117922266G>A ENST00000425217.1 - 16 2372 c.2318C>T c.(2317-2319)aCg>aTg p.T773M KSR2_ENST00000339824.5_Missense_Mutation_p.T802M|KSR2_ENST00000302438.5_3'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 802 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity p.T834M(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCAAAGTCCGTGATGACCAC 0.542000 7 60 0 0 1 0 0 CTD-2620I22.1 0 broad.mit.edu 37 19 53472914 53472914 + RNA SNP A A G TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr19:53472914A>G ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TTTGATTTTCAATTAAAAACC 0.338000 6 60 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109689490 109689490 + Silent SNP A A C TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr9:109689490A>C ENST00000277225.5 + 3 3586 c.3297A>C c.(3295-3297)ccA>ccC p.P1099P ZNF462_ENST00000457913.1_Silent_p.P1099P Q96JM2 ZN462_HUMAN zinc finger protein 462 1099 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P1099P(1) NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TGGGTTCCCCACCCCCCCCAC 0.532000 3 42 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36381032 36381032 + Silent SNP C C T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr1:36381032C>T ENST00000373204.4 + 15 2130 c.1917C>T c.(1915-1917)gaC>gaT p.D639D AGO1_ENST00000373206.1_Silent_p.D564D NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 TCATTGAAGACTTGTCCTACA 0.547000 20 142 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26784809 26784809 + Missense_Mutation SNP T T A TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr12:26784809T>A ENST00000381340.3 - 22 3340 c.2924A>T c.(2923-2925)gAg>gTg p.E975V RP11-666F17.1_ENST00000414098.2_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 975 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CTGCAAAATCTCAATGATCTT 0.473000 6 150 0 0 1 0 0 FADS1 3992 broad.mit.edu 37 11 61570928 61570928 + Silent SNP G G A TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr11:61570928G>A ENST00000350997.7 - 9 1387 c.1155C>T c.(1153-1155)ttC>ttT p.F385F FADS1_ENST00000542506.1_Silent_p.F244F|FADS1_ENST00000433932.1_Silent_p.F244F|FADS1_ENST00000460649.1_Silent_p.F30F|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000536991.1_Silent_p.F76F NM_013402.4 NP_037534.3 O60427 FADS1_HUMAN fatty acid desaturase 1 328 cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport endoplasmic reticulum membrane|integral to membrane|microsome C-5 sterol desaturase activity|heme binding|protein binding central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGCTTTCCAGGAACCTGTTAG 0.478000 10 316 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3427403 3427403 + Missense_Mutation SNP T T C TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr1:3427403T>C ENST00000356575.4 - 10 1404 c.1178A>G c.(1177-1179)tAc>tGc p.Y393C MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 393 EGF-like 7. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCCGCACTCGTACCCGCCAGG 0.687000 58 79 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296361 39296361 + Missense_Mutation SNP A A G rs146882220 by1000genomes TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr17:39296361A>G ENST00000345847.4 - 1 378 c.379T>C c.(379-381)Tcc>Ccc p.S127P NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 123 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 CAGCACTGGGACCTGCAGCAC 0.652000 9 72 0 0 1 0 0 ZNF624 57547 broad.mit.edu 37 17 16525630 16525630 + Missense_Mutation SNP A A T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr17:16525630A>T ENST00000311331.7 - 6 2661 c.2570T>A c.(2569-2571)aTa>aAa p.I857K NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 857 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TCTTTGATGTATTCTTTGATG 0.328000 89 114 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643066 1643066 + Silent SNP A A G TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr11:1643066A>G ENST00000399682.1 - 1 302 c.258T>C c.(256-258)ggT>ggC p.G86G NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 86 9 X 4 AA repeats of C-C-X-P. keratin filament p.G86G(1) NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCCTTGGAACCCCCACAAG 0.667000 7 186 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 824957 824957 + Missense_Mutation SNP C C T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr16:824957C>T ENST00000293892.3 - 7 1614 c.1615G>A c.(1615-1617)Gcg>Acg p.A539T MSLNL_ENST00000442466.1_Missense_Mutation_p.A188T Q96KJ4 MSLNL_HUMAN mesothelin-like 188 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 ATGCTGGACGCGTCCATGTCA 0.716000 18 91 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 4 89 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40668280 40668280 + Missense_Mutation SNP T T C TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr21:40668280T>C ENST00000342449.3 - 6 437 c.359A>G c.(358-360)cAc>cGc p.H120R BRWD1_ENST00000380800.3_Missense_Mutation_p.H120R|BRWD1_ENST00000333229.2_Missense_Mutation_p.H120R NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CCAAACTGTGTGCCTGCAGTC 0.368000 83 88 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A rs139541363 by1000genomes TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr2:129026419G>A ENST00000259241.6 - 2 566 c.553C>T c.(553-555)Cga>Tga p.R185* NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 185 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity p.R185*(2) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ACGGGGTCTCGTAGCAGGGTG 0.627000 4 87 0 0 1 0 0 USP41 373856 broad.mit.edu 37 22 20724427 20724427 + Missense_Mutation SNP T T C TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr22:20724427T>C ENST00000454608.2 - 7 462 c.463A>G c.(463-465)Atc>Gtc p.I155V USP41_ENST00000486536.2_5'UTR ubiquitin specific peptidase 41 endometrium(1)|kidney(1)|lung(2)|skin(1) 5 ACATCAGCGATCTGGTCCTTA 0.468000 4 199 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34242285 34242285 + Silent SNP G G C TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr20:34242285G>C ENST00000374114.3 - 3 1223 c.960C>G c.(958-960)gtC>gtG p.V320V CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Silent_p.V320V|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Silent_p.V320V|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 320 RRM 1. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) AAAAATCTCTGACATCATTTT 0.438000 4 153 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274424 39274424 + Missense_Mutation SNP G G C TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr17:39274424G>C ENST00000391413.2 - 1 182 c.144C>G c.(142-144)agC>agG p.S48R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 48 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.S48R(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCCTGCAGCAGCTGGACACAC 0.672000 8 145 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32482250 32482250 + Silent SNP C C T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr22:32482250C>T ENST00000266088.4 + 10 1315 c.1065C>T c.(1063-1065)tgC>tgT p.C355C SLC5A1_ENST00000543737.1_Silent_p.C228C NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 355 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 AGAAATATTGCGGTACCAAGG 0.468000 4 263 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 6 114 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69434071 69434071 + Missense_Mutation SNP G G A TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr8:69434071G>A ENST00000337103.4 + 5 2062 c.470G>A c.(469-471)cGt>cAt p.R157H C8orf34_ENST00000518698.1_Missense_Mutation_p.R268H|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.R182H|C8orf34_ENST00000539993.1_Missense_Mutation_p.R182H Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 182 signal transduction cAMP-dependent protein kinase regulator activity p.R157H(1)|p.R182H(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CTGAGGCCCCGTGTGATTGGA 0.413000 28 44 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46658226 46658226 + Missense_Mutation SNP C C T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr22:46658226C>T ENST00000253255.5 - 1 993 c.994G>A c.(994-996)Gtc>Atc p.V332I NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 332 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GAACTCCTGACGATCCAGACA 0.547000 7 372 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45028102 45028102 + RNA SNP C C T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr19:45028102C>T ENST00000454753.1 - 0 667 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) TGAGTCCTCCCGCTGGACAAT 0.527000 3 6 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95121253 95121253 + Missense_Mutation SNP T T C TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr10:95121253T>C ENST00000371501.4 - 28 3052 c.2930A>G c.(2929-2931)gAt>gGt p.D977G MYOF_ENST00000359263.4_Missense_Mutation_p.D977G|MYOF_ENST00000371502.4_Missense_Mutation_p.D977G|MYOF_ENST00000358334.5_Missense_Mutation_p.D964G Q9NZM1 MYOF_HUMAN myoferlin 977 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CCATGCATCATCTTCCCATTC 0.458000 73 107 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32021216 32021216 + Missense_Mutation SNP C C A TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr6:32021216C>A ENST00000375244.3 - 25 8941 c.8740G>T c.(8740-8742)Ggc>Tgc p.G2914C TNXB_ENST00000375247.2_Missense_Mutation_p.G2912C P22105 TENX_HUMAN tenascin XB 2961 Fibronectin type-III 21. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCGTGGAAGCCGTACAGGTTC 0.657000 4 97 0.00909568 0.00946948 1 1 0 LAMA4 3910 broad.mit.edu 37 6 112479970 112479970 + Missense_Mutation SNP G G T TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr6:112479970G>T ENST00000230538.7 - 14 2178 c.1781C>A c.(1780-1782)gCa>gAa p.A594E RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.A587E|LAMA4_ENST00000522006.1_Missense_Mutation_p.A587E|LAMA4_ENST00000389463.4_Missense_Mutation_p.A587E NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 594 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AAGGTCCTGTGCATGGTCAAT 0.343000 45 74 1.57945e-13 1.79162e-13 1 1 0 RP5-896L10.1 0 broad.mit.edu 37 1 99474094 99474094 + RNA DEL A A - rs57656522 TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr1:99474094delA ENST00000425113.1 + 0 370 NR_033940.1 AACAGCAACTAAAAAAAAAAA 0.353 4 9 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 8 45 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 3 3 --- --- --- --- RBM6 10180 broad.mit.edu 37 3 50004962 50004962 + Frame_Shift_Del DEL T T - TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr3:50004962delT ENST00000266022.4 + 3 363 c.104delT c.(103-105)ctfs p.L35fs RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron NM_005777.2 NP_005768.1 P78332 RBM6_HUMAN RNA binding motif protein 6 35 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) CCTCCTCCCCTTAAGAGTCAT 0.483 72 107 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560458 147560466 + In_Frame_Del DEL GGCGGCGGC GGCGGCGGC - rs67907220 TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr4:147560458_147560466delGGCGGCGGC ENST00000281321.3 + 1 414_422 c.166_174delGGCGGCGGC c.(166-174)del p.GGG65del AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 65 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CGCTggtggtggcggcggcggcggcggcg 0.761 7 7 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523273 32523274 + RNA DEL GA GA - TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr6:32523273_32523274delGA ENST00000411500.1 - 0 458 NR_001298.1 ATTCCACTGTGAGAGGGCTCAT 0.396 7 28 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 9 247 --- --- --- --- SVIL 6840 broad.mit.edu 37 10 29773738 29773738 + Frame_Shift_Del DEL C C - TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr10:29773738delC ENST00000375398.2 - 29 5251 c.4802delG c.(4801-4803)atfs p.S1601fs SVIL_ENST00000375400.3_Frame_Shift_Del_p.S1175fs|SVIL_ENST00000535393.1_Frame_Shift_Del_p.S515fs|SVIL_ENST00000355867.4_Frame_Shift_Del_p.S1601fs|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Frame_Shift_Del_p.S393fs O95425 SVIL_HUMAN supervillin 1601 Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GTAAACTTCACTACCAAAATC 0.403 37 62 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 10 86 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-BJ-A28S-01A-11D-A19J-08 TCGA-BJ-A28S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 574a6f3e-f543-4d69-a672-75a0a0d13b7e 5f1f775a-9dd6-4a48-b6b4-9441cc7e3006 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 9 221 --- --- --- ---