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 NBPF14 25832 broad.mit.edu 37 1 148012531 148012531 + Silent SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:148012531C>T ENST00000369219.1 - 12 1444 c.1428G>A c.(1426-1428)aaG>aaA p.K476K Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 476 NBPF 5. cytoplasm p.K476K(2)|p.K476N(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGCCAACATGCTTTTCCTCCA 0.443000 4 8 0 0 2.56e-06 0 0 DOCK11 139818 broad.mit.edu 37 X 117752567 117752567 + Missense_Mutation SNP T T C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrX:117752567T>C ENST00000276204.6 + 31 3421 c.3347T>C c.(3346-3348)gTt>gCt p.V1116A DOCK11_ENST00000276202.7_Missense_Mutation_p.V1116A Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1116 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CACTTCTTGGTTGGTCTACTT 0.318000 28 52 0 0 3.70037e-05 0 0 RSRC2 65117 broad.mit.edu 37 12 123001841 123001841 + Missense_Mutation SNP G G A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:123001841G>A ENST00000331738.7 - 5 680 c.535C>T c.(535-537)Cgt>Tgt p.R179C RSRC2_ENST00000354654.2_Missense_Mutation_p.R131C NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 179 Ser-rich. breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) GAGCGGGAACGAGACCTGATC 0.483000 39 27 0 0 2.05139e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29628261 29628261 + Missense_Mutation SNP T T C rs111331725 by1000genomes TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr20:29628261T>C ENST00000278882.3 + 6 643 c.263T>C c.(262-264)tTt>tCt p.F88S FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S|FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATAGCTGCTTTATTAGATGC 0.363000 5 83 0 0 1.23904e-05 0 0 LEMD3 23592 broad.mit.edu 37 12 65564456 65564456 + Silent SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:65564456C>T ENST00000308330.2 + 1 1106 c.1080C>T c.(1078-1080)aaC>aaT p.N360N LEMD3_ENST00000541171.1_Intron NM_001167614.1|NM_014319.4 NP_001161086.1|NP_055134.2 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 360 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) ACCGTGTTAACGCTAAGAAAC 0.552000 7 31 0 0 5.18039e-06 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44021765 44021765 + Missense_Mutation SNP A A G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:44021765A>G ENST00000260605.8 + 6 590 c.490A>G c.(490-492)Atg>Gtg p.M164V DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.M38V|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.M164V|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.M164V|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000489222.2_3'UTR NM_001193464.1|NM_016008.3 NP_001180393.1|NP_057092.2 Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 164 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGGAATAATATGCCGAAGGA 0.363000 106 302 0 0 2.47226e-05 0 0 CECR1 51816 broad.mit.edu 37 22 17688079 17688079 + Missense_Mutation SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr22:17688079C>T ENST00000399839.1 - 3 694 c.424G>A c.(424-426)Ggg>Agg p.G142R CECR1_ENST00000262607.3_Missense_Mutation_p.G142R|CECR1_ENST00000449907.2_Missense_Mutation_p.G100R|CECR1_ENST00000399837.2_Missense_Mutation_p.G142R Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 142 PRB domain. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) TGCATGATCCCCCTTGGGGTG 0.532000 45 15 0 0 2.47226e-05 0 0 AIRE 326 broad.mit.edu 37 21 45706946 45706946 + Silent SNP G G A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr21:45706946G>A ENST00000291582.5 + 3 520 c.393G>A c.(391-393)aaG>aaA p.K131K NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 131 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) TCCCCACCAAGAGGAAGGCCT 0.697000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 5 17 0 0 3.59834e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 6 86 0 0 1.12685e-05 0 0 TFR2 7036 broad.mit.edu 37 7 100226876 100226876 + Splice_Site SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:100226876C>T ENST00000462107.1 - 11 1677 c.1390_splice c.e11+1 p.G464_splice TFR2_ENST00000223051.3_Splice_Site_p.G464_splice|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000544242.1_Splice_Site_p.G5_splice Q9UP52 TFR2_HUMAN transferrin receptor 2 464 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CTGACCTTACCGTTGCTCACC 0.657000 10 76 0 0 5.50884e-06 0 0 FAM211A 388341 broad.mit.edu 37 17 16347246 16347246 + Missense_Mutation SNP G G A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr17:16347246G>A ENST00000409083.3 - 3 737 c.575C>T c.(574-576)cCg>cTg p.P192L C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.R231C NM_207387.3 NP_997270.2 Q8NAA5 CQ076_HUMAN family with sequence similarity 211, member A 330 lung(1) 1 GTGGTGAGGCGGGGCAGGGTG 0.632000 6 24 0 0 3.59834e-05 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453583 84453583 + Missense_Mutation SNP T T C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr13:84453583T>C ENST00000377084.2 - 1 2945 c.2060A>G c.(2059-2061)tAt>tGt p.Y687C NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 687 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GCCACAGTCATACACTCTGTG 0.587000 7 18 0 0 2.0095e-06 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50455562 50455562 + Missense_Mutation SNP C C T rs140702198 byFrequency TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr19:50455562C>T ENST00000447370.2 - 9 1831 c.1741G>A c.(1741-1743)Gtc>Atc p.V581I SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I|CTC-326K19.6_ENST00000451973.1_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 581 cell adhesion integral to membrane sugar binding p.V569I(1)|p.V581I(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) TACCTGAAGACGACAAGGCAG 0.622000 20 25 0 0 3.10358e-05 0 0 AQP12A 375318 broad.mit.edu 37 2 241631380 241631380 + Missense_Mutation SNP T T A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:241631380T>A ENST00000429564.1 + 1 113 c.50T>A c.(49-51)cTc>cAc p.L17H AQP12A_ENST00000337801.4_Missense_Mutation_p.L17H Q8IXF9 AQ12A_HUMAN aquaporin 12A 17 integral to membrane transporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(7) 14 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) ACCTTCGCCCTCTGTGAGGCG 0.687000 6 33 0 0 2.0095e-06 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214123 11214123 + Missense_Mutation SNP G G C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:11214123G>C ENST00000533467.1 - 1 770 c.771C>G c.(769-771)aaC>aaG p.N257K TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 257 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) AGACAGGTTTGTTTTCCAGAC 0.408000 33 183 0 0 1.17478e-05 0 0 PTBP2 58155 broad.mit.edu 37 1 97278427 97278427 + Missense_Mutation SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:97278427C>T ENST00000236228.6 + 12 1413 c.1331C>T c.(1330-1332)tCc>tTc p.S444F PTBP2_ENST00000370197.1_Missense_Mutation_p.S449F|PTBP2_ENST00000394184.3_Missense_Mutation_p.S460F|PTBP2_ENST00000370198.1_Missense_Mutation_p.S449F|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000426398.2_Missense_Mutation_p.S444F|PTBP2_ENST00000482253.1_3'UTR NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 444 nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) AAACCTGGATCCAAAAATTTT 0.373000 9 26 0 0 2.17888e-05 0 0 TPTE 7179 broad.mit.edu 37 21 11012916 11012916 + Splice_Site SNP C C A rs4041777 TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr21:11012916C>A ENST00000415664.2 - 8 1004 c.e8+1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAAATTTTACCTAGCTTTTT 0.299000 29 44 1.77063e-15 3.25429e-13 1.32003e-05 1 0 CHRM3 1131 broad.mit.edu 37 1 240071307 240071307 + Missense_Mutation SNP G G C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:240071307G>C ENST00000255380.4 + 5 1335 c.556G>C c.(556-558)Ggt>Cgt p.G186R NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 186 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) AAAGAGAGCCGGTGTGATGAT 0.502000 5 134 0 0 5.18039e-06 0 0 KCNC2 3747 broad.mit.edu 37 12 75444669 75444669 + Silent SNP T T A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:75444669T>A ENST00000549446.1 - 3 1796 c.1116A>T c.(1114-1116)ggA>ggT p.G372G KCNC2_ENST00000540018.1_Silent_p.G372G|KCNC2_ENST00000393288.2_Silent_p.G372G|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Silent_p.G372G|KCNC2_ENST00000548513.1_Silent_p.G372G|KCNC2_ENST00000550433.1_Silent_p.G372G|KCNC2_ENST00000350228.2_Silent_p.G372G|KCNC2_ENST00000298972.1_Silent_p.G372G NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 372 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 GAAGAGTATGTCCAAGCACCC 0.443000 5 22 0 0 1.23904e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 74 11 0 0 2.47226e-05 0 0 TUBA3D 113457 broad.mit.edu 37 2 132238267 132238267 + Missense_Mutation SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:132238267C>T ENST00000321253.6 + 4 1108 c.1001C>T c.(1000-1002)aCc>aTc p.T334I NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 334 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) GCCATCGCCACCATCAAGACC 0.562000 10 38 0 0 3.86212e-05 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254167 30254167 + Silent SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrX:30254167C>T ENST00000361644.2 + 5 863 c.126C>T c.(124-126)tcC>tcT p.S42S MAGEB3_ENST00000378986.1_Silent_p.S42S NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 42 NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 CCTTTTCATCCCCTCTTATTT 0.498000 11 8 0 0 6.40141e-05 0 0 ZNF248 57209 broad.mit.edu 37 10 38120724 38120724 + Missense_Mutation SNP T T C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr10:38120724T>C ENST00000395867.3 - 6 2109 c.1559A>G c.(1558-1560)tAt>tGt p.Y520C ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.Y520C|ZNF248_ENST00000494133.1_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 520 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 ATTACACTTATATGGTTTCTC 0.408000 19 18 0 0 8.00594e-06 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502272 140502272 + Missense_Mutation SNP T T A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr5:140502272T>A ENST00000194152.1 + 1 692 c.692T>A c.(691-693)aTc>aAc p.I231N NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 231 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAATCCTGATCATGGACATC 0.537000 12 53 0 0 1.49906e-05 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857274 101857274 + Missense_Mutation SNP G G A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrX:101857274G>A ENST00000604957.1 + 1 2827 c.205G>A c.(205-207)Gag>Aag p.E69K RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.E69K|ARMCX5_ENST00000537008.1_Missense_Mutation_p.E69K|ARMCX5_ENST00000246174.2_Missense_Mutation_p.E69K|ARMCX5_ENST00000536530.1_Missense_Mutation_p.E69K|ARMCX5_ENST00000372742.1_Missense_Mutation_p.E69K|RP4-769N13.7_ENST00000602441.1_RNA NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 69 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 GACCTACAGGGAGGCTATGGC 0.507000 13 47 0 0 9.31168e-06 0 0 LOC101928517 101928517 broad.mit.edu 37 19 51671531 51671531 + RNA SNP C C T rs139300887 by1000genomes TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr19:51671531C>T ENST00000600074.1 - 0 493 SIGLEC17P_ENST00000598286.1_RNA GATCATCCCACGGCCTCAGGA 0.627000 5 13 0 0 1.23904e-05 0 0 KCTD7 154881 broad.mit.edu 37 7 66104168 66104168 + Silent SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:66104168C>T ENST00000275532.3 + 4 1003 c.819C>T c.(817-819)aaC>aaT p.N273N KCTD7_ENST00000443322.1_Silent_p.N273N NM_001167961.2|NM_153033.4 NP_001161433.1|NP_694578.1 Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 273 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 ACCTCGTGAACCACTACTACT 0.577000 12 32 0 0 5.50884e-06 0 0 FOCAD 54914 broad.mit.edu 37 9 20820362 20820362 + Missense_Mutation SNP G G A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr9:20820362G>A ENST00000380249.1 + 15 1964 c.1600G>A c.(1600-1602)Gga>Aga p.G534R FOCAD_ENST00000605086.1_5'UTR|FOCAD_ENST00000338382.6_Missense_Mutation_p.G534R NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 534 integral to membrane binding ACAACTACTTGGAACCACACC 0.378000 33 16 0 0 4.2857e-05 0 0 FOCAD 54914 broad.mit.edu 37 9 20820363 20820363 + Missense_Mutation SNP G G A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr9:20820363G>A ENST00000380249.1 + 15 1965 c.1601G>A c.(1600-1602)gGa>gAa p.G534E FOCAD_ENST00000605086.1_5'UTR|FOCAD_ENST00000338382.6_Missense_Mutation_p.G534E NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 534 integral to membrane binding CAACTACTTGGAACCACACCA 0.373000 34 16 0 0 6.26518e-05 0 0 TFAP2D 83741 broad.mit.edu 37 6 50712873 50712873 + Missense_Mutation SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr6:50712873C>T ENST00000008391.3 + 6 1165 c.937C>T c.(937-939)Cca>Tca p.P313S TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 313 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AACAGAGTTTCCAGCCAAAGC 0.453000 18 19 0 0 8.00594e-06 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49362784 49362784 + Missense_Mutation SNP G G A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr19:49362784G>A ENST00000263265.6 - 7 1189 c.634C>T c.(634-636)Ccc>Tcc p.P212S PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P212S NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 212 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GTGGGGCTGGGAGTGAGCAGC 0.632000 8 20 0 0 2.17888e-05 0 0 NRCAM 4897 broad.mit.edu 37 7 107823349 107823349 + Missense_Mutation SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:107823349C>T ENST00000379028.3 - 23 2790 c.2320G>A c.(2320-2322)Gaa>Aaa p.E774K NRCAM_ENST00000379022.4_Missense_Mutation_p.E774K|NRCAM_ENST00000379024.4_Missense_Mutation_p.E755K|NRCAM_ENST00000351718.4_Missense_Mutation_p.E758K|NRCAM_ENST00000413765.2_Missense_Mutation_p.E755K|NRCAM_ENST00000425651.2_Missense_Mutation_p.E774K Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 774 Fibronectin type-III 2. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CCATTAGATTCGAAACCATTC 0.413000 6 47 0 0 2.0095e-06 0 0 ST18 9705 broad.mit.edu 37 8 53084780 53084780 + Missense_Mutation SNP T T C TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr8:53084780T>C ENST00000276480.7 - 10 1324 c.641A>G c.(640-642)aAa>aGa p.K214R NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 214 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCTAGGTGGTTTGGTTTCTTC 0.408000 6 42 0 0 3.59834e-05 0 0 GPM6A 2823 broad.mit.edu 37 4 176561960 176561960 + Missense_Mutation SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr4:176561960C>T ENST00000280187.7 - 6 607 c.562G>A c.(562-564)Gaa>Aaa p.E188K GPM6A_ENST00000393658.2_Missense_Mutation_p.E188K|GPM6A_ENST00000506894.1_Missense_Mutation_p.E177K|GPM6A_ENST00000515090.1_Missense_Mutation_p.E181K|GPM6A_ENST00000506219.1_5'UTR NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 188 cell surface|integral to membrane p.E188K(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) ATTTTCTTTTCCTCTCCAATT 0.338000 10 21 0 0 6.40141e-05 0 0 GRIA3 2892 broad.mit.edu 37 X 122551412 122551412 + Missense_Mutation SNP G G A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrX:122551412G>A ENST00000264357.5 + 11 1952 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K GRIA3_ENST00000371256.5_Missense_Mutation_p.E554K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E538K|GRIA3_ENST00000371251.1_Missense_Mutation_p.E554K|GRIA3_ENST00000542149.1_Missense_Mutation_p.E554K NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 554 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CCTGGCTTATGAAATCTGGAT 0.428000 88 135 0 0 2.47226e-05 0 0 DTX1 1840 broad.mit.edu 37 12 113515257 113515257 + Silent SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr12:113515257C>T ENST00000257600.3 + 2 791 c.288C>T c.(286-288)ttC>ttT p.F96F NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 96 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GGCGCAACTTCTACGACCCGT 0.672000 6 23 0 0 3.59834e-05 0 0 TFIP11 24144 broad.mit.edu 37 22 26894937 26894937 + Missense_Mutation SNP C C G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr22:26894937C>G ENST00000407690.1 - 10 1617 c.1334G>C c.(1333-1335)tGc>tCc p.C445S TFIP11_ENST00000405938.1_Missense_Mutation_p.C445S|TFIP11_ENST00000407148.1_Missense_Mutation_p.C445S|TFIP11_ENST00000407431.1_Missense_Mutation_p.C445S NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 445 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 GCCATAAGTGCAGTCCTGAGG 0.557000 16 60 0 0 3.45872e-05 0 0 HERC4 26091 broad.mit.edu 37 10 69785421 69785421 + Missense_Mutation SNP A A G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr10:69785421A>G ENST00000395198.3 - 8 1037 c.790T>C c.(790-792)Ttt>Ctt p.F264L HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Missense_Mutation_p.F264L|HERC4_ENST00000373700.4_Missense_Mutation_p.F264L|HERC4_ENST00000277817.6_Missense_Mutation_p.F154L NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 264 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 CCAAAAGTAAACACTCCACCT 0.358000 26 23 0 0 2.90539e-05 0 0 CKAP2L 150468 broad.mit.edu 37 2 113514717 113514717 + Missense_Mutation SNP T T G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:113514717T>G ENST00000302450.6 - 4 309 c.231A>C c.(229-231)aaA>aaC p.K77N CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR NM_152515.3 NP_689728.3 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 77 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TGGGCTGGAGTTTAATGCTGA 0.413000 27 99 0 0 1.7367e-05 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803493 142803493 + RNA SNP T T C rs80149641 by1000genomes TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:142803493T>C ENST00000423385.1 - 0 1472 TGTACATTTATTATTGATTTA 0.323000 12 112 0 0 6.40141e-05 0 0 RRP15 51018 broad.mit.edu 37 1 218458675 218458675 + Missense_Mutation SNP C C G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:218458675C>G ENST00000366932.3 + 1 47 c.17C>G c.(16-18)cCg>cGg p.P6R NM_016052.3 NP_057136.2 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog (S. cerevisiae) 6 mitochondrion|nucleolus protein binding ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) GCCGCCGCTCCGGACTCACGT 0.547000 21 19 0 0 3.10358e-05 0 0 HSPG2 3339 broad.mit.edu 37 1 22178171 22178171 + Silent SNP G G A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:22178171G>A ENST00000374695.3 - 55 7105 c.7026C>T c.(7024-7026)ccC>ccT p.P2342P HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2342 Ig-like C2-type 9. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CGATGCGGATGGGCTGGGTGC 0.642000 8 34 0 0 3.86212e-05 0 0 C17orf80 55028 broad.mit.edu 37 17 71231869 71231869 + Missense_Mutation SNP T T G rs148616003 TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr17:71231869T>G ENST00000359042.2 + 3 442 c.248T>G c.(247-249)gTg>gGg p.V83G C17orf80_ENST00000255557.4_Missense_Mutation_p.V83G|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.V83G|C17orf80_ENST00000577615.1_Missense_Mutation_p.V83G|C17orf80_ENST00000426147.2_Missense_Mutation_p.V83G|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000535032.2_Missense_Mutation_p.V83G NM_017941.4 NP_060411.2 Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 83 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) AAGTTGGTGGTGGACAAACCA 0.398000 11 32 0 0 6.40141e-05 0 0 UPF2 26019 broad.mit.edu 37 10 11994238 11994238 + Missense_Mutation SNP C C A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr10:11994238C>A ENST00000356352.2 - 14 3334 c.2861G>T c.(2860-2862)tGg>tTg p.W954L UPF2_ENST00000357604.5_Missense_Mutation_p.W954L|UPF2_ENST00000397053.2_Missense_Mutation_p.W954L Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 954 MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TTTCTTCCACCAAACATAACG 0.294000 9 216 1.58986e-06 0.000286794 3.86212e-05 1 0 ROR2 4920 broad.mit.edu 37 9 94486904 94486904 + Silent SNP G G A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr9:94486904G>A ENST00000375708.3 - 9 2070 c.1872C>T c.(1870-1872)taC>taT p.Y624Y ROR2_ENST00000375715.1_Silent_p.Y484Y|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 624 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCAGCTTGTCGTACACTAGCA 0.577000 13 59 0 0 9.31168e-06 0 0 GNRHR2 114814 broad.mit.edu 37 1 145513702 145513703 + RNA DEL CC CC - TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr1:145513702_145513703delCC ENST00000312753.5 - 0 888 CCTCCATCCTCCCTAGCAtttc 0.411 2 4 --- --- --- --- PXDN 7837 broad.mit.edu 37 2 1637997 1637998 + Frame_Shift_Ins INS - - TT TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr2:1637997_1637998insTT ENST00000252804.4 - 23 4468_4469 c.4418_4419insAA c.(4417-4419)aagfs p.K1473fs NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1473 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCTCCGCCCTCTTCTGTAAGCA 0.639 2 4 --- --- --- --- ETV7 51513 broad.mit.edu 37 6 36341294 36341294 + Frame_Shift_Del DEL C C - rs3213530 byFrequency TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr6:36341294delC ENST00000373738.1 - 3 1049 c.204delG c.(202-204)ggfs p.G68fs ETV7_ENST00000340181.4_Frame_Shift_Del_p.G123fs|ETV7_ENST00000538992.1_5'UTR|ETV7_ENST00000373737.4_Frame_Shift_Del_p.G123fs|ETV7_ENST00000339796.5_Frame_Shift_Del_p.G123fs NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 123 PNT. organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 CAAAAAAGGGCCCACACACCA 0.627 2 4 --- --- --- --- EIF3B 8662 broad.mit.edu 37 7 2419064 2419064 + Frame_Shift_Del DEL G G - TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:2419064delG ENST00000360876.4 + 18 2433 c.2377delG c.(2377-2379)acfs p.D793fs EIF3B_ENST00000397011.2_Frame_Shift_Del_p.D793fs NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 793 D -> E (in dbSNP:rs1063257). regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CAACGTGGACGACTGGGAAGA 0.602 2 4 --- --- --- --- NSUN5P1 155400 broad.mit.edu 37 7 75045497 75045497 + RNA DEL G G - TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr7:75045497delG ENST00000393633.2 + 0 4280 large_intestine(1)|lung(1) 2 GGGTCGTGGAGGGGGGGGATG 0.657 2 4 --- --- --- --- CD44 960 broad.mit.edu 37 11 35160867 35160867 + Frame_Shift_Del DEL G G - TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr11:35160867delG ENST00000263398.6 + 1 451 c.17delG c.(16-18)tgfs p.W6fs CD44_ENST00000449691.2_Frame_Shift_Del_p.W6fs|CD44_ENST00000437706.2_Frame_Shift_Del_p.W6fs|CD44_ENST00000433354.2_Frame_Shift_Del_p.W6fs|CD44_ENST00000428726.2_Frame_Shift_Del_p.W6fs|CD44_ENST00000526669.2_Frame_Shift_Del_p.W6fs|CD44_ENST00000352818.4_Frame_Shift_Del_p.W6fs|CD44_ENST00000526025.1_Frame_Shift_Del_p.W6fs|CD44_ENST00000278386.6_Frame_Shift_Del_p.W6fs|CD44_ENST00000434472.2_Frame_Shift_Del_p.W6fs|CD44_ENST00000360158.4_Frame_Shift_Del_p.W6fs|CD44_ENST00000433892.2_Frame_Shift_Del_p.W6fs|CD44_ENST00000415148.2_Frame_Shift_Del_p.W6fs NM_001001391.1|NM_001202555.1|NM_001202556.1 NP_001001391.1|NP_001189484.1|NP_001189485.1 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 6 cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) AAGTTTTGGTGGCACGCAGCC 0.716 2 4 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 7 45 --- --- --- --- CDH19 28513 broad.mit.edu 37 18 64197127 64197128 + Frame_Shift_Ins INS - - G TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr18:64197127_64197128insG ENST00000262150.2 - 9 1704_1705 c.1412_1413insC c.(1411-1413)tcafs p.S471fs CDH19_ENST00000540086.1_Frame_Shift_Ins_p.S471fs NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 471 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) CATAGTATTGAGAGAACTCAGG 0.317 25 92 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chr19:9361741delT ENST00000456448.1 + 1 136 c.22delT c.(22-24)ttfs p.F11fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCCAATTCTCTTTTTTTTTTT 0.388 3 5 --- --- --- --- LDOC1 23641 broad.mit.edu 37 X 140271057 140271063 + Frame_Shift_Del DEL CGGGCAG CGGGCAG - TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dba28b3d-826a-429e-849f-740d9a8344cb 1b6a33a9-bfd6-4890-afd4-63723ccee5ff g.chrX:140271057_140271063delCGGGCAG ENST00000370526.2 - 1 247_253 c.144_150delCTGCCCG c.(142-150)agfs p.SCP48fs LDOC1_ENST00000460721.1_Intron NM_012317.2 NP_036449.1 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 48 negative regulation of cell proliferation nucleus protein binding p.P50L(1) endometrium(6)|large_intestine(1)|lung(6)|ovary(1) 14 Acute lymphoblastic leukemia(192;7.65e-05) GGAAGGGCACCGGGCAGCTCGGCGGAC 0.638 8 12 --- --- --- ---