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 CRNKL1 51340 broad.mit.edu 37 20 20033198 20033198 + Missense_Mutation SNP C C T rs145079188 byFrequency TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr20:20033198C>T ENST00000377340.2 - 2 303 c.272G>A c.(271-273)tGc>tAc p.C91Y C20orf26_ENST00000377306.1_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.C79Y|C20orf26_ENST00000245957.5_5'UTR NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 91 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 CTCCTTGCGGCAGCGCGTGGA 0.667000 4 42 0 0 1 0 0 KIF4A 24137 broad.mit.edu 37 X 69640090 69640090 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:69640090C>A ENST00000374403.3 + 31 3756 c.3674C>A c.(3673-3675)tCc>tAc p.S1225Y NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 1225 Globular.|Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 TCTGGCTGCTCCCCTATCGAA 0.498000 8 28 0.000157383 0.000180556 1 1 0 ATXN3L 92552 broad.mit.edu 37 X 13337312 13337312 + Missense_Mutation SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:13337312G>C ENST00000380622.2 - 1 1206 c.742C>G c.(742-744)Cgc>Ggc p.R248G GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 248 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity p.R248S(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 ATAGTACTGCGGAGATGTTCA 0.448000 95 233 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45819207 45819207 + Silent SNP C C T rs142650258 TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr21:45819207C>T ENST00000397928.1 + 14 2536 c.2091C>T c.(2089-2091)gaC>gaT p.D697D TRPM2_ENST00000300481.9_Silent_p.D677D|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.D697D|TRPM2_ENST00000397932.2_Silent_p.D697D NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 697 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.D697D(1) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ACCGGAAGGACGAAGAGAGAG 0.627000 14 78 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897108 175897108 + Silent SNP G G A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:175897108G>A ENST00000359240.3 + 5 1102 c.432G>A c.(430-432)acG>acA p.T144T ADAM29_ENST00000514159.1_Silent_p.T144T|ADAM29_ENST00000445694.1_Silent_p.T144T|ADAM29_ENST00000404450.4_Silent_p.T144T NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 144 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TTTCTACCACGTTTGAACATC 0.383000 9 74 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784690 140784690 + Missense_Mutation SNP T T A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr5:140784690T>A ENST00000573521.1 + 1 2171 c.2171T>A c.(2170-2172)cTg>cAg p.L724Q PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTCGCATCTGCTGCGGGCT 0.577000 35 104 0 0 1 0 0 POMT1 10585 broad.mit.edu 37 9 134387478 134387478 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr9:134387478C>T ENST00000423007.1 + 11 1479 c.1037C>T c.(1036-1038)cCc>cTc p.P346L POMT1_ENST00000341012.7_Missense_Mutation_p.P292L|POMT1_ENST00000402686.3_Missense_Mutation_p.P346L|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000404875.2_Missense_Mutation_p.P229L|POMT1_ENST00000419118.2_Missense_Mutation_p.P194L|POMT1_ENST00000372228.3_Missense_Mutation_p.P368L|POMT1_ENST00000354713.4_Missense_Mutation_p.P316L|POMT1_ENST00000541219.1_Missense_Mutation_p.P124L NM_001136113.1 NP_001129585.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 368 MIR 1. multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) ACCTGTTACCCCTTCAAAGAT 0.562000 11 10 0 0 1 0 0 VPS35 55737 broad.mit.edu 37 16 46696267 46696267 + Missense_Mutation SNP T T A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr16:46696267T>A ENST00000299138.7 - 15 2013 c.1955A>T c.(1954-1956)cAg>cTg p.Q652L NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 652 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AAGGGCACACTGAGTCCTCAG 0.493000 7 72 0 0 1 0 0 GPATCH2L 55668 broad.mit.edu 37 14 76643024 76643024 + Missense_Mutation SNP G G T rs143220234 TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr14:76643024G>T ENST00000261530.7 + 6 1109 c.1043G>T c.(1042-1044)cGg>cTg p.R348L GPATCH2L_ENST00000312858.5_Missense_Mutation_p.R348L NM_017926.2 NP_060396.2 G patch domain containing 2-like AGTGACCCTCGGCAGAAAGAG 0.453000 8 49 3.09899e-07 3.91561e-07 1 1 0 KCNH7 90134 broad.mit.edu 37 2 163256864 163256864 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr2:163256864C>A ENST00000332142.5 - 10 2341 c.2242G>T c.(2242-2244)Ggg>Tgg p.G748W NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 748 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.G748W(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTACTTGCCCCCCGAAAGGCT 0.483000 10 91 0.000442599 0.000495605 1 1 0 IL7R 3575 broad.mit.edu 37 5 35875632 35875632 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr5:35875632G>T ENST00000303115.3 + 7 948 c.819G>T c.(817-819)tgG>tgT p.W273C IL7R_ENST00000343305.4_Missense_Mutation_p.G242V|IL7R_ENST00000506850.1_Missense_Mutation_p.G242V NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 273 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CTATCGTATGGCCCAGTCTCC 0.433000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 6 41 0.00116845 0.0012929 1 1 0 NSDHL 50814 broad.mit.edu 37 X 152031163 152031163 + Silent SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:152031163C>A ENST00000370274.3 + 5 632 c.438C>A c.(436-438)gcC>gcA p.A146A NSDHL_ENST00000440023.1_Silent_p.A146A NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 146 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) CCAGCAGTGCCAGTGTCATCT 0.403000 24 70 6.44725e-10 9.34602e-10 1 1 0 LYAR 55646 broad.mit.edu 37 4 4269734 4269734 + Missense_Mutation SNP T T C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:4269734T>C ENST00000343470.4 - 10 1262 c.1022A>G c.(1021-1023)tAc>tGc p.Y341C LYAR_ENST00000452476.1_Missense_Mutation_p.Y341C NM_017816.2 NP_060286.1 Q9NX58 LYAR_HUMAN Ly1 antibody reactive 341 Lys-rich. nucleolus metal ion binding|protein binding p.Y341C(1) endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGTCACTGTGTAGTACTGAGC 0.353000 4 26 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23549650 23549650 + Silent SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr14:23549650C>T ENST00000262710.1 - 6 1395 c.1068G>A c.(1066-1068)caG>caA p.Q356Q ACIN1_ENST00000605057.1_Silent_p.Q298Q|ACIN1_ENST00000555053.1_Silent_p.Q356Q|ACIN1_ENST00000457657.1_Silent_p.Q316Q NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 356 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding p.Q356Q(1) breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CCTTCTCCTGCTGCTGTCTGG 0.453000 12 63 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119665232 119665232 + Missense_Mutation SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:119665232G>C ENST00000379735.5 - 15 2180 c.1909C>G c.(1909-1911)Ctc>Gtc p.L637V SEC24D_ENST00000511481.1_Missense_Mutation_p.L267V|SEC24D_ENST00000280551.6_Missense_Mutation_p.L636V|SEC24D_ENST00000429811.2_Missense_Mutation_p.L192V|SEC24D_ENST00000419654.2_Missense_Mutation_p.L192V|SEC24D_ENST00000505134.1_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 636 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CTAGGAAAGAGGAAGAGTGTC 0.488000 7 25 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164777778 164777778 + Missense_Mutation SNP A A G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr3:164777778A>G ENST00000264382.3 - 10 1120 c.1058T>C c.(1057-1059)cTt>cCt p.L353P NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 353 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTGGAATCCAAGATTCCAATA 0.348000 HNSCC(35;0.089) 44 100 0 0 1 0 0 SLC18A1 6570 broad.mit.edu 37 8 20022587 20022587 + Missense_Mutation SNP A A G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr8:20022587A>G ENST00000440926.1 - 10 1360 c.890T>C c.(889-891)cTc>cCc p.L297P SLC18A1_ENST00000265808.7_Missense_Mutation_p.L297P|SLC18A1_ENST00000519026.1_Missense_Mutation_p.L297P|SLC18A1_ENST00000276373.5_Missense_Mutation_p.L297P|SLC18A1_ENST00000381608.4_Missense_Mutation_p.L297P|SLC18A1_ENST00000437980.1_Missense_Mutation_p.L297P NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 297 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) AGGGTCTTTGAGAAGCATAAA 0.502000 17 54 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 80971341 80971341 + Missense_Mutation SNP C C G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr14:80971341C>G ENST00000555265.1 - 24 3470 c.3095G>C c.(3094-3096)gGt>gCt p.G1032A CEP128_ENST00000281129.3_Missense_Mutation_p.G1032A|CEP128_ENST00000553717.1_5'UTR Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 1032 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 AGTGTGGGAACCTTCCAGAAA 0.433000 4 38 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71201736 71201736 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:71201736C>T ENST00000273936.4 + 1 1039 c.980C>T c.(979-981)gCa>gTa p.A327V NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 327 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GTTGTCCCTGCATCAATAGCT 0.408000 14 70 0 0 1 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107170052 107170052 + RNA SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr14:107170052G>T ENST00000390633.2 - 0 290 TGCGTAGTTTGCTGTACCAAA 0.562000 31 126 2.4375e-19 4.25993e-19 1 1 0 HTRA4 203100 broad.mit.edu 37 8 38839176 38839176 + Missense_Mutation SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr8:38839176G>C ENST00000302495.4 + 6 1104 c.1004G>C c.(1003-1005)gGt>gCt p.G335A NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 335 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) TGCCAGGATGGTGATGTGATT 0.453000 17 44 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89417110 89417110 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr15:89417110G>T ENST00000439576.2 + 17 7745 c.7371G>T c.(7369-7371)agG>agT p.R2457S ACAN_ENST00000559004.1_Missense_Mutation_p.R2419S|ACAN_ENST00000561243.1_Missense_Mutation_p.R2457S|ACAN_ENST00000352105.7_Intron NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2457 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGCATGCCAGGACCTTCGGGC 0.592000 9 33 0.0477658 0.0493492 1 1 0 LONRF3 79836 broad.mit.edu 37 X 118147029 118147029 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:118147029G>T ENST00000365713.2 + 8 1879 c.1716G>T c.(1714-1716)gaG>gaT p.E572D LONRF3_ENST00000422289.2_Missense_Mutation_p.E357D|LONRF3_ENST00000304778.7_Missense_Mutation_p.E572D|LONRF3_ENST00000371628.3_Missense_Mutation_p.E613D|LONRF3_ENST00000472173.1_3'UTR Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 613 Lon. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 GCATCCTAGAGATCAGAAATG 0.507000 44 167 6.5261e-18 1.10944e-17 1 1 0 NDN 4692 broad.mit.edu 37 15 23932097 23932097 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr15:23932097G>T ENST00000331837.4 - 1 353 c.268C>A c.(268-270)Ccg>Acg p.P90T NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 90 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGCGGTGCCGGGCCCGGCTGG 0.711000 Prader-Willi syndrome 16 28 2.31682e-05 2.72482e-05 1 1 0 CMTM4 146223 broad.mit.edu 37 16 66651243 66651243 + Silent SNP G G A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr16:66651243G>A ENST00000330687.4 - 5 823 c.642C>T c.(640-642)aaC>aaT p.N214N NM_178818.2|NM_181521.2 NP_848933.1|NP_852662.1 Q8IZR5 CKLF4_HUMAN CKLF-like MARVEL transmembrane domain containing 4 214 chemotaxis extracellular space|integral to membrane cytokine activity cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214) TTACTGTTACGTTTGTGGAGT 0.363000 14 23 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149505384 149505384 + RNA SNP G G T rs150092603 by1000genomes TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr7:149505384G>T ENST00000378016.2 + 0 8942 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACCTCGGAGCGCTGCCCAGGT 0.602000 16 57 2.23348e-06 2.76597e-06 1 1 0 GLI1 2735 broad.mit.edu 37 12 57858477 57858477 + Missense_Mutation SNP G G A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr12:57858477G>A ENST00000228682.2 + 4 306 c.215G>A c.(214-216)cGg>cAg p.R72Q GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_5'UTR NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 72 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) TCTTCTCCCCGGAGTGCAGTC 0.587000 6 40 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10600417 10600417 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr19:10600417C>A ENST00000171111.5 - 4 1985 c.1438G>T c.(1438-1440)Ggg>Tgg p.G480W KEAP1_ENST00000393623.2_Missense_Mutation_p.G480W NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.G480W(2) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGGTTTGTCCCGTCAAAGCCC 0.582000 11 29 4.68919e-08 6.13202e-08 1 1 0 CNTRL 11064 broad.mit.edu 37 9 123924403 123924403 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr9:123924403G>T ENST00000373855.1 + 34 5537 c.5277G>T c.(5275-5277)caG>caT p.Q1759H CNTRL_ENST00000238341.5_Missense_Mutation_p.Q1759H|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q1207H|CNTRL_ENST00000373845.2_3'UTR Q7Z7A1 CNTRL_HUMAN centriolin 1759 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GGCAGAAGCAGCTCCTTGAGA 0.433000 20 37 2.94398e-08 3.93232e-08 1 1 0 SCN5A 6331 broad.mit.edu 37 3 38592059 38592059 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr3:38592059C>A ENST00000413689.1 - 28 5997 c.5804G>T c.(5803-5805)gGc>gTc p.G1935V SCN5A_ENST00000455624.2_Missense_Mutation_p.G1902V|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1881V|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1934V|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1934V|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1917V|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1917V|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1935V|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1881V|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1881V NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1935 G -> S (in BRS1). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TTCGGAGAGGCCGCTGCCCGC 0.627000 17 52 4.7546e-09 6.58601e-09 1 1 0 MUC17 140453 broad.mit.edu 37 7 100682271 100682271 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr7:100682271C>T ENST00000306151.4 + 3 7638 c.7574C>T c.(7573-7575)aCg>aTg p.T2525M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2525 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTCAGCACCACGCCAGTGGCC 0.478000 185 491 0 0 1 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799710 159799710 + Nonsense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:159799710C>A ENST00000289707.5 + 2 244 c.95C>A c.(94-96)tCg>tAg p.S32* SLAMF8_ENST00000368104.4_Intron NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 32 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) GTCGGGGGCTCGGTGCTGCTG 0.602000 43 165 2.59497e-14 4.11237e-14 1 1 0 PCNXL2 80003 broad.mit.edu 37 1 233134126 233134126 + Nonsense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:233134126C>A ENST00000258229.8 - 32 5896 c.5662G>T c.(5662-5664)Gga>Tga p.G1888* PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.G540* NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1888 integral to membrane p.G1888R(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GCCCCTCCTCCGTCCACGTCT 0.617000 11 58 1.08611e-07 1.41043e-07 1 1 0 PCDHB15 56121 broad.mit.edu 37 5 140627174 140627174 + Silent SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr5:140627174G>T ENST00000231173.3 + 1 2028 c.2028G>T c.(2026-2028)gcG>gcT p.A676A NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 676 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCAGAGGCGGCCCCGGCCC 0.662000 36 141 4.11147e-13 6.46089e-13 1 1 0 GRIA2 2891 broad.mit.edu 37 4 158257547 158257547 + Missense_Mutation SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:158257547G>C ENST00000296526.7 + 11 1817 c.1492G>C c.(1492-1494)Gct>Cct p.A498P GRIA2_ENST00000264426.9_Missense_Mutation_p.A498P|GRIA2_ENST00000393815.2_Missense_Mutation_p.A451P|GRIA2_ENST00000507898.1_Missense_Mutation_p.A451P|GRIA2_ENST00000449365.1_Missense_Mutation_p.A451P NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 498 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TATTGCAATTGCTCCATTAAC 0.403000 15 127 0 0 1 0 0 TRIM49 57093 broad.mit.edu 37 11 89531628 89531628 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr11:89531628C>A ENST00000329758.1 - 8 1357 c.1029G>T c.(1027-1029)tgG>tgT p.W343C TRIM49_ENST00000532501.2_Missense_Mutation_p.W266C NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 343 B30.2/SPRY. intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CATGGACCTCCCAGTAATATT 0.448000 19 57 1.10923e-09 1.59559e-09 1 1 0 NOP9 161424 broad.mit.edu 37 14 24771457 24771457 + Nonsense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr14:24771457C>T ENST00000267425.3 + 5 1063 c.970C>T c.(970-972)Cga>Tga p.R324* NOP9_ENST00000396802.3_Nonsense_Mutation_p.R324* NM_174913.1 NP_777573.1 NOP9 nucleolar protein GCTATTTCTCCGAGATCAGAC 0.517000 41 178 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 313794 313794 + Silent SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr12:313794C>T ENST00000428720.1 - 4 1028 c.285G>A c.(283-285)gcG>gcA p.A95A SLC6A12_ENST00000359674.4_Silent_p.A95A|RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000397296.2_Silent_p.A95A|SLC6A12_ENST00000536824.1_Silent_p.A95A|SLC6A12_ENST00000424061.2_Silent_p.A95A NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 95 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.A95A(1) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) ATTGGCCCAACGCCACCTCCA 0.587000 7 37 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53616745 53616745 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:53616745C>A ENST00000342160.3 - 35 4680 c.4223G>T c.(4222-4224)cGg>cTg p.R1408L HUWE1_ENST00000262854.6_Missense_Mutation_p.R1408L|HUWE1_ENST00000218328.8_Missense_Mutation_p.R1408L Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1408 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity p.R1271L(1) NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CCGAGCTTTCCGTTCCTCTTC 0.493000 13 26 2.27111e-07 2.90889e-07 1 1 0 IGLV2-23 28813 broad.mit.edu 37 22 23040631 23040631 + RNA SNP G G A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr22:23040631G>A ENST00000390306.2 + 0 241 GACTCAGCCTGCCTCCGTGTC 0.587000 60 234 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402466 248402466 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:248402466C>A ENST00000306687.1 + 1 236 c.236C>A c.(235-237)cCc>cAc p.P79H NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACCACTCTACCCAAGATGATC 0.473000 33 147 2.08457e-15 3.41942e-15 1 1 0 TUBA3E 112714 broad.mit.edu 37 2 130951747 130951747 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr2:130951747G>T ENST00000312988.7 - 4 768 c.668C>A c.(667-669)aCg>aAg p.T223K NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 223 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) GTTGGTGTACGTGGGACGTTC 0.542000 17 177 3.52763e-06 4.31155e-06 1 1 0 SARS2 54938 broad.mit.edu 37 19 39421116 39421116 + Silent SNP G G A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr19:39421116G>A ENST00000221431.6 - 1 420 c.261C>T c.(259-261)ccC>ccT p.P87P SARS2_ENST00000600042.1_Silent_p.P87P|SARS2_ENST00000430193.3_Silent_p.P87P|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron NM_017827.3 NP_060297.1 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2, mitochondrial 87 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TCACGATCGCGGGCAGGTCCG 0.672000 OREG0025455|OREG0032101 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 11 58 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34322723 34322723 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr18:34322723C>A ENST00000257209.4 + 19 3380 c.3258C>A c.(3256-3258)gaC>gaA p.D1086E FHOD3_ENST00000591635.1_Missense_Mutation_p.D282E|FHOD3_ENST00000445677.1_Missense_Mutation_p.D1048E|FHOD3_ENST00000359247.4_Missense_Mutation_p.D1069E|FHOD3_ENST00000590592.1_Missense_Mutation_p.D1261E|FHOD3_ENST00000592128.1_Missense_Mutation_p.D65E NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1069 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTCCTGGACCTGAAGGAAG 0.358000 38 224 6.53348e-20 1.1526e-19 1 1 0 ULK1 8408 broad.mit.edu 37 12 132400636 132400636 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr12:132400636G>T ENST00000321867.4 + 19 2161 c.1810G>T c.(1810-1812)Ggc>Tgc p.G604C NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 604 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GAACCTGCGGGGCTCACCCAA 0.697000 10 32 1.76689e-08 2.39427e-08 1 1 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305766 39305766 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr17:39305766C>A ENST00000343246.4 - 1 288 c.254G>T c.(253-255)tGc>tTc p.C85F NM_033188.3 NP_149445.3 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 90 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ggtcctgcagcaggtggtctg 0.667000 8 55 5.18039e-06 6.24989e-06 1 1 0 CNTN6 27255 broad.mit.edu 37 3 1371543 1371543 + Nonsense_Mutation SNP G G T rs144743086 by1000genomes TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr3:1371543G>T ENST00000446702.2 + 11 1915 c.1288G>T c.(1288-1290)Gga>Tga p.G430* CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G358*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G430* Q9UQ52 CNTN6_HUMAN contactin 6 430 Ig-like C2-type 5. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane p.G430R(1) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TATTGTTATCGGATGCAAACC 0.358000 5 40 1.23904e-05 1.48526e-05 1 1 0 EID1 23741 broad.mit.edu 37 15 49170594 49170594 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr15:49170594G>T ENST00000530028.2 + 1 512 c.221G>T c.(220-222)aGc>aTc p.S74I SHC4_ENST00000332408.4_Intron|EID1_ENST00000560490.1_Missense_Mutation_p.S52I|EID1_ENST00000558295.1_Intron NM_014335.2 NP_055150.1 Q9Y6B2 EID1_HUMAN EP300 interacting inhibitor of differentiation 1 74 Interaction with NR0B2 (By similarity). cell cycle|cell differentiation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus histone acetyltransferase binding|histone acetyltransferase regulator activity|transcription corepressor activity liver(1)|prostate(1) 2 all_lung(180;0.00455) all cancers(107;2.73e-08)|GBM - Glioblastoma multiforme(94;9.58e-07) GGGAAACGGAGCCTTGCTAAC 0.682000 9 29 0.00448238 0.00481727 1 1 0 FNDC3A 22862 broad.mit.edu 37 13 49771056 49771056 + Missense_Mutation SNP G G T rs143325159 by1000genomes TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr13:49771056G>T ENST00000492622.2 + 20 2575 c.2270G>T c.(2269-2271)gGg>gTg p.G757V FNDC3A_ENST00000541916.1_Missense_Mutation_p.G757V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G701V NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 757 Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) ACAGCCCCTGGGCCACCAGAT 0.388000 6 33 2.0095e-06 2.50517e-06 1 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121653017 121653017 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr7:121653017C>A ENST00000393386.2 + 12 4328 c.3917C>A c.(3916-3918)cCa>cAa p.P1306Q PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1306 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GCCCATCCCCCAAAAGGAAGG 0.368000 15 98 3.27435e-08 4.34258e-08 1 1 0 TNN 63923 broad.mit.edu 37 1 175067497 175067497 + Missense_Mutation SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:175067497G>C ENST00000239462.4 + 9 1998 c.1885G>C c.(1885-1887)Gac>Cac p.D629H NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 629 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.D629Y(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCTGGTGACTGACCGGGTGAC 0.527000 48 153 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78701070 78701070 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr3:78701070C>A ENST00000436010.2 - 17 3504 c.2507G>T c.(2506-2508)gGa>gTa p.G836V ROBO1_ENST00000467549.1_Missense_Mutation_p.G839V|ROBO1_ENST00000464233.1_Missense_Mutation_p.G875V|ROBO1_ENST00000495273.1_Missense_Mutation_p.G839V Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 875 Fibronectin type-III 3. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CACAGGGTTTCCATGGGCATC 0.473000 16 87 2.32078e-09 3.28778e-09 1 1 0 NKX2-2 4821 broad.mit.edu 37 20 21492978 21492978 + Silent SNP G G A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr20:21492978G>A ENST00000377142.4 - 2 761 c.405C>T c.(403-405)ttC>ttT p.F135F NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 135 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GCGCCTTGGAGAAAAGCACTC 0.697000 6 16 0 0 1 0 0 CHIC1 53344 broad.mit.edu 37 X 72797281 72797281 + Missense_Mutation SNP C C G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:72797281C>G ENST00000373504.6 + 2 420 c.335C>G c.(334-336)tCc>tGc p.S112C CHIC1_ENST00000373502.5_Missense_Mutation_p.S112C Q5VXU3 CHIC1_HUMAN cysteine-rich hydrophobic domain 1 112 cytoplasmic membrane-bounded vesicle|plasma membrane endometrium(1)|large_intestine(1)|lung(2) 4 Renal(35;0.156) GAATTTCCCTCCGTTCTAACA 0.343000 12 45 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74473635 74473635 + Splice_Site SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr15:74473635C>T ENST00000323940.5 - 17 1930 c.e17+1 STRA6_ENST00000574439.1_Splice_Site|STRA6_ENST00000535552.1_Splice_Site|STRA6_ENST00000423167.2_Splice_Site|STRA6_ENST00000395105.4_Splice_Site|STRA6_ENST00000574278.1_Splice_Site|STRA6_ENST00000449139.2_Splice_Site|STRA6_ENST00000416286.3_Splice_Site|STRA6_ENST00000563965.1_Splice_Site NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 AGTGACCTTACCGGGGTCGAG 0.652000 6 13 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186395211 186395211 + Missense_Mutation SNP G G A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr3:186395211G>A ENST00000232003.4 + 7 1197 c.1117G>A c.(1117-1119)Gaa>Aaa p.E373K NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 373 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) ccatcctcatgaacatgatac 0.517000 16 28 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920453 4920453 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr12:4920453G>T ENST00000433855.1 + 1 2112 c.1246G>T c.(1246-1248)Gca>Tca p.A416S KCNA6_ENST00000280684.3_Missense_Mutation_p.A416S NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 416 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CTTCTGGTGGGCAGTGGTTAC 0.582000 HNSCC(72;0.22) 28 91 1.42536e-11 2.18477e-11 1 1 0 UNC13C 440279 broad.mit.edu 37 15 54527229 54527229 + Splice_Site SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr15:54527229G>T ENST00000545554.1 + 4 3073 c.3071_splice c.e4-1 p.A1025_splice UNC13C_ENST00000260323.11_Splice_Site_p.A1025_splice|UNC13C_ENST00000537900.1_Splice_Site_p.A1025_splice Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1025 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTCTTTCAGGGCTGGAGGTGG 0.368000 6 31 0.00116845 0.0012929 1 1 0 ZNF274 10782 broad.mit.edu 37 19 58724155 58724155 + Silent SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr19:58724155G>T ENST00000326804.4 + 9 2064 c.1605G>T c.(1603-1605)gtG>gtT p.V535V ZNF274_ENST00000424679.2_Silent_p.V430V|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.V503V NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 536 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) GGCCCTATGTGTGTCAAGACT 0.463000 23 80 2.89027e-11 4.32384e-11 1 1 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 39 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3209205 3209205 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr20:3209205C>T ENST00000380059.3 - 18 2571 c.2470G>A c.(2470-2472)Gat>Aat p.D824N SLC4A11_ENST00000539553.1_Missense_Mutation_p.D781N|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.D797N NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 797 Membrane (bicarbonate transporter). V -> M (in CHED2; deafness not assessed). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 TGGTTGCCATCGAGGGAGGTG 0.672000 17 32 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68201169 68201169 + Missense_Mutation SNP A A T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr11:68201169A>T ENST00000294304.7 + 18 3969 c.3863A>T c.(3862-3864)gAc>gTc p.D1288V NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1288 LDL-receptor class A 1. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGTGCGATGACCAGAGCGAC 0.706000 9 79 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177001606 177001606 + Missense_Mutation SNP A A C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:177001606A>C ENST00000367654.2 - 3 864 c.851T>G c.(850-852)aTg>aGg p.M284R ASTN1_ENST00000367657.3_Missense_Mutation_p.M284R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.M284R|ASTN1_ENST00000361833.2_Missense_Mutation_p.M284R O14525 ASTN1_HUMAN astrotactin 1 284 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGTGAGGTCCATCCCCGACTT 0.597000 16 128 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58207686 58207686 + Missense_Mutation SNP A A G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr13:58207686A>G ENST00000377918.3 + 1 1032 c.1006A>G c.(1006-1008)Aaa>Gaa p.K336E NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 336 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AGCCCACTGCAAAGTCACGGT 0.627000 22 77 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79671407 79671407 + Splice_Site SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr6:79671407C>A ENST00000275034.4 - 31 3823 c.3656_splice c.e31+1 p.R1219_splice PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1219 Bromo 1. insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TGGTTCTAACCTGTAAAACCT 0.403000 3 17 1 1 1 1 0 GRIK4 2900 broad.mit.edu 37 11 120744853 120744853 + Missense_Mutation SNP G G T rs148410637 TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr11:120744853G>T ENST00000527524.2 + 10 1272 c.985G>T c.(985-987)Ggc>Tgc p.G329C RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.G329C Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 329 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CCAAGAGATCGGCGTGAAGCC 0.647000 4 30 0.00909568 0.00960956 1 1 0 HNRNPUL1 11100 broad.mit.edu 37 19 41778106 41778106 + Nonsense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr19:41778106G>T ENST00000392006.3 + 3 711 c.538G>T c.(538-540)Gga>Tga p.G180* HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.G180*|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.G80*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.G80*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.G80*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.G91*|HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.G137* NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 180 nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 AGAAAACCGGGGACGGGGGTA 0.552000 38 208 2.05212e-20 3.65473e-20 1 1 0 CTNNA1 1495 broad.mit.edu 37 5 138223196 138223196 + Missense_Mutation SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr5:138223196G>C ENST00000302763.7 + 9 1251 c.1161G>C c.(1159-1161)atG>atC p.M387I CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.M387I|CTNNA1_ENST00000355078.5_Missense_Mutation_p.M284I|CTNNA1_ENST00000540387.1_Missense_Mutation_p.M17I NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 387 Interaction with alpha-actinin. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AAGCTGTCATGGACCACGTTT 0.333000 32 77 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47281994 47281994 + Silent SNP G G A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr19:47281994G>A ENST00000542575.2 - 5 1624 c.996C>T c.(994-996)aaC>aaT p.N332N SLC1A5_ENST00000594991.1_Silent_p.N156N|SLC1A5_ENST00000412532.2_Silent_p.N104N|SLC1A5_ENST00000434726.2_Silent_p.N130N NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 332 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) AGCGGTAGGGGTTTTTGCGGG 0.602000 12 59 0 0 1 0 0 MARCH1 55016 broad.mit.edu 37 4 164466813 164466813 + Missense_Mutation SNP A A T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:164466813A>T ENST00000503008.1 - 7 1482 c.506T>A c.(505-507)gTg>gAg p.V169E MARCH1_ENST00000274056.7_Missense_Mutation_p.V169E|MARCH1_ENST00000514618.1_Missense_Mutation_p.V425E|MARCH1_ENST00000339875.5_Missense_Mutation_p.V152E NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 169 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AGACCAAACCACACAGGTGAT 0.438000 17 61 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558944 140558944 + Silent SNP G G C rs61747391 TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr5:140558944G>C ENST00000239444.2 + 1 1574 c.1329G>C c.(1327-1329)tcG>tcC p.S443S NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 443 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTGGTGTCGGACGTCAATG 0.577000 62 910 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23811086 23811086 + Missense_Mutation SNP A A T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr15:23811086A>T ENST00000314520.3 + 1 633 c.157A>T c.(157-159)Agg>Tgg p.R53W MKRN3_ENST00000568252.1_Missense_Mutation_p.R53W|MKRN3_ENST00000564592.1_Missense_Mutation_p.R53W NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 53 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) ACATGCGGCAAGGGGCTGGGC 0.687000 16 42 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101755662 101755662 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr13:101755662G>T ENST00000251127.6 - 26 2999 c.2918C>A c.(2917-2919)cCt>cAt p.P973H NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 973 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TACATTTTGAGGCATCCAACA 0.443000 23 92 5.26018e-13 8.19711e-13 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158627359 158627359 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:158627359G>T ENST00000368148.3 - 19 2893 c.2713C>A c.(2713-2715)Ctg>Atg p.L905M SPTA1_ENST00000368147.3_Missense_Mutation_p.L905M NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 905 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGGTCAGCCAGGTACTGCTGG 0.473000 17 177 4.7546e-09 6.58601e-09 1 1 0 SPP1 6696 broad.mit.edu 37 4 88901272 88901272 + Silent SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:88901272C>A ENST00000237623.7 + 4 316 c.168C>A c.(166-168)gcC>gcA p.A56A SPP1_ENST00000360804.4_Intron|SPP1_ENST00000395080.3_Silent_p.A56A|SPP1_ENST00000509659.1_3'UTR NM_000582.2 NP_000573.1 P10451 OSTP_HUMAN secreted phosphoprotein 1 56 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) ATCTCCTAGCCCCACAGGTAT 0.438000 11 62 0.0692343 0.0711364 1 1 0 STK11IP 114790 broad.mit.edu 37 2 220471461 220471461 + Missense_Mutation SNP A A T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr2:220471461A>T ENST00000456909.1 + 12 1105 c.1015A>T c.(1015-1017)Atg>Ttg p.M339L STK11IP_ENST00000295641.10_Missense_Mutation_p.M350L Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 350 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTCAGCCCCATGGGCCCACC 0.627000 22 69 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50714334 50714334 + Missense_Mutation SNP T T A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr22:50714334T>A ENST00000449103.1 - 36 5536 c.5396A>T c.(5395-5397)cAg>cTg p.Q1799L PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1799L|AL022328.1_ENST00000595015.1_Missense_Mutation_p.51_51insQ O15031 PLXB2_HUMAN plexin B2 1799 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ATAGTACTTCTGCGTGTATTG 0.657000 OREG0026679 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 31 0 0 1 0 0 APOBEC4 403314 broad.mit.edu 37 1 183617369 183617369 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:183617369C>T ENST00000308641.4 - 2 819 c.548G>A c.(547-549)cGg>cAg p.R183Q RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000367531.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 183 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 CAAAACAACCCGCGGCCATAA 0.468000 6 88 0 0 1 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89416880 89416880 + RNA SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr2:89416880G>T ENST00000490686.1 - 0 330 AAATCTTCAGGCTGCAGGCTG 0.493000 13 138 0.00185496 0.00204045 1 1 0 ZNF559 84527 broad.mit.edu 37 19 9451835 9451835 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr19:9451835G>T ENST00000393883.2 + 5 866 c.218G>T c.(217-219)gGg>gTg p.G73V ZNF559_ENST00000586255.1_Missense_Mutation_p.G101V|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.G137V|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_Missense_Mutation_p.G73V|ZNF559_ENST00000592896.1_Missense_Mutation_p.G101V|ZNF559_ENST00000538743.1_5'UTR|ZNF559_ENST00000592504.1_Missense_Mutation_p.G73V|ZNF559_ENST00000585352.1_Missense_Mutation_p.G73V|ZNF559_ENST00000603380.1_Missense_Mutation_p.G73V NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 73 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 TTTTTGCAGGGGAAAACATCC 0.333000 7 15 3.09899e-07 3.91561e-07 1 1 0 FAM47C 442444 broad.mit.edu 37 X 37027524 37027524 + Silent SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:37027524C>A ENST00000358047.3 + 1 1093 c.1041C>A c.(1039-1041)ccC>ccA p.P347P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 347 p.P347P(3) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CAGAGCCTCCCGAGACTGGAG 0.632000 27 118 1.66031e-10 2.4641e-10 1 1 0 PCDH10 57575 broad.mit.edu 37 4 134073644 134073644 + Silent SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:134073644C>T ENST00000264360.4 + 1 3175 c.2349C>T c.(2347-2349)agC>agT p.S783S NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 783 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) AGAAACTCAGCAAGTCAGACA 0.632000 12 33 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526126 176526126 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:176526126C>A ENST00000367662.3 + 2 1832 c.668C>A c.(667-669)cCc>cAc p.P223H PAPPA2_ENST00000367661.3_Missense_Mutation_p.P223H NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 223 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CAACCTTGGCCCAAGCATTCC 0.562000 22 141 1.50039e-11 2.28108e-11 1 1 0 DHX57 90957 broad.mit.edu 37 2 39088695 39088695 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr2:39088695C>A ENST00000295373.6 - 5 983 c.857G>T c.(856-858)cGc>cTc p.R286L DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 286 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) CTTGGATTTGCGGAATCTACT 0.348000 8 74 5.18039e-06 6.24989e-06 1 1 0 MAGEA6 4105 broad.mit.edu 37 X 151869584 151869584 + Nonsense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:151869584G>T ENST00000329342.5 + 3 499 c.274G>T c.(274-276)Gag>Tag p.E92* NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 92 protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CAACCAAGAAGAGGAGGGGCC 0.557000 31 123 7.11191e-15 1.15646e-14 1 1 0 ATRNL1 26033 broad.mit.edu 37 10 117704271 117704271 + Missense_Mutation SNP G G A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr10:117704271G>A ENST00000355044.3 + 29 4247 c.4121G>A c.(4120-4122)cGt>cAt p.R1374H ATRNL1_ENST00000303745.7_Missense_Mutation_p.R167H|ATRNL1_ENST00000423111.2_Missense_Mutation_p.R425H NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1374 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CTTTCAACACGTCAAGGAACT 0.403000 18 90 0 0 1 0 0 IGLL1 3543 broad.mit.edu 37 22 23915773 23915773 + Splice_Site SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr22:23915773C>A ENST00000330377.2 - 3 440 c.e3-1 IGLL1_ENST00000249053.3_Splice_Site NM_020070.3 NP_064455.1 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 immune response extracellular region|membrane kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1) 12 TTGGGCTGACCTGTGTGGACA 0.582000 6 63 0.0215528 0.0223909 1 1 0 GYG1 2992 broad.mit.edu 37 3 148711957 148711957 + Silent SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr3:148711957C>T ENST00000345003.4 + 2 336 c.36C>T c.(34-36)aaC>aaT p.N12N GYG1_ENST00000484197.1_Silent_p.N12N|GYG1_ENST00000296048.6_Silent_p.N12N|GYG1_ENST00000483267.1_Silent_p.N12N NM_004130.3 NP_004121.2 P46976 GLYG_HUMAN glycogenin 1 12 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TAACCACAAACGATGCCTACG 0.493000 6 55 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47163294 47163294 + Missense_Mutation SNP A A C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:47163294A>C ENST00000295454.3 + 4 561 c.269A>C c.(268-270)cAg>cCg p.Q90P GABRB1_ENST00000538619.1_Missense_Mutation_p.Q20P NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 90 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TATTTCCAGCAGTCTTGGAAA 0.358000 27 80 0 0 1 0 0 VPS11 55823 broad.mit.edu 37 11 118948590 118948590 + Missense_Mutation SNP T T G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr11:118948590T>G ENST00000300793.6 + 11 1614 c.1572T>G c.(1570-1572)aaT>aaG p.N524K VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 525 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) TTCCACAGAATTATCAGGAAG 0.498000 31 153 0 0 1 0 0 EFS 10278 broad.mit.edu 37 14 23826487 23826487 + Missense_Mutation SNP A A T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr14:23826487A>T ENST00000216733.3 - 6 2241 c.1634T>A c.(1633-1635)cTg>cAg p.L545Q EFS_ENST00000429593.2_Missense_Mutation_p.L376Q|EFS_ENST00000351354.3_Missense_Mutation_p.L452Q NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 545 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) CTGCCCTGCCAGTTCTGTTAC 0.627000 16 65 0 0 1 0 0 RNASE11 122651 broad.mit.edu 37 14 21052360 21052360 + Missense_Mutation SNP C C G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr14:21052360C>G ENST00000335950.4 - 3 736 c.274G>C c.(274-276)Ggt>Cgt p.G92R RNASE11_ENST00000553849.1_Missense_Mutation_p.G92R|RNASE11_ENST00000398009.2_Missense_Mutation_p.G92R|RNASE11_ENST00000432835.2_Missense_Mutation_p.G92R|RNASE11_ENST00000555841.1_Missense_Mutation_p.G92R|RNASE11_ENST00000398008.2_Missense_Mutation_p.G92R NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 92 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) TTGTCATTACCCGAACTGTTT 0.423000 14 161 0 0 1 0 0 MIR412 574433 broad.mit.edu 37 14 101531868 101531868 + RNA SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr14:101531868G>C ENST00000362142.2 + 0 85 NR_030155.1 GTCCGTATCCGCTGCAGCCTG 0.567000 11 76 0 0 1 0 0 OR1A2 26189 broad.mit.edu 37 17 3101236 3101236 + Missense_Mutation SNP A A T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr17:3101236A>T ENST00000381951.1 + 1 424 c.424A>T c.(424-426)Atc>Ttc p.I142F NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 ACGGTCTTGTATCCTGCTTAT 0.512000 17 124 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141334914 141334914 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr5:141334914G>T ENST00000231484.3 - 1 3713 c.2503C>A c.(2503-2505)Ccg>Acg p.P835T NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 835 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCCGCCGGTGCTCCCTGG 0.637000 20 46 2.4624e-09 3.46217e-09 1 1 0 BEND2 139105 broad.mit.edu 37 X 18195792 18195792 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:18195792C>A ENST00000380033.4 - 10 1659 c.1527G>T c.(1525-1527)ttG>ttT p.L509F BEND2_ENST00000380030.3_Missense_Mutation_p.L418F NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 509 BEN 1. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 AAATACGAACCAAGTAGCAGG 0.428000 41 216 9.62906e-15 1.55227e-14 1 1 0 VGLL3 389136 broad.mit.edu 37 3 87027892 87027892 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr3:87027892G>T ENST00000398399.2 - 2 550 c.187C>A c.(187-189)Caa>Aaa p.Q63K VGLL3_ENST00000383698.3_Missense_Mutation_p.Q63K NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 63 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) tcctcctcTTGTTTGCTGGGA 0.483000 5 62 0.0215528 0.0223909 1 1 0 ACCSL 390110 broad.mit.edu 37 11 44077843 44077843 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr11:44077843C>A ENST00000378832.1 + 11 1350 c.1294C>A c.(1294-1296)Cag>Aag p.Q432K NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 432 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 TGGCATCACCCAGCACAAGCT 0.532000 14 25 1.41608e-15 2.34342e-15 1 1 0 ZCCHC11 23318 broad.mit.edu 37 1 52991388 52991388 + Missense_Mutation SNP T T A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:52991388T>A ENST00000371544.3 - 2 827 c.565A>T c.(565-567)Act>Tct p.T189S ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.T189S|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T189S NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 189 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 TCCACAGAAGTAAAGGAGCTT 0.403000 51 94 0 0 1 0 0 FOXO4 4303 broad.mit.edu 37 X 70320970 70320970 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:70320970C>T ENST00000374259.3 + 2 1222 c.890C>T c.(889-891)cCt>cTt p.P297L FOXO4_ENST00000341558.3_Missense_Mutation_p.P242L NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 297 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) GGGGGTGTCCCTCCCACCCTC 0.572000 OREG0019856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 42 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150768258 150768258 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr7:150768258G>T ENST00000485713.1 + 13 2889 c.1849G>T c.(1849-1851)Gtg>Ttg p.V617L SLC4A2_ENST00000392826.2_Missense_Mutation_p.V608L|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V603L|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V617L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V535L NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 617 bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCTTCAGAAGTGCAGGGCGA 0.657000 3 16 0.115264 0.117783 1 1 0 FAT3 120114 broad.mit.edu 37 11 92568124 92568124 + Silent SNP T T C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr11:92568124T>C ENST00000298047.6 + 14 9977 c.9960T>C c.(9958-9960)gcT>gcC p.A3320A FAT3_ENST00000409404.2_Silent_p.A3320A|FAT3_ENST00000525166.1_Silent_p.A3170A Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3320 Cadherin 30. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCACCCCAGCTCTCAGCGCTG 0.483000 TCGA Ovarian(4;0.039) 10 10 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105824201 105824201 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr10:105824201C>A ENST00000353479.5 - 10 1051 c.761G>T c.(760-762)gGa>gTa p.G254V COL17A1_ENST00000369733.3_Missense_Mutation_p.G254V|COL17A1_ENST00000393211.3_Missense_Mutation_p.G254V NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 254 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGTACCTGATCCCGCAGAGTA 0.597000 24 18 1.10513e-12 1.70793e-12 1 1 0 FAT1 2195 broad.mit.edu 37 4 187628360 187628360 + Silent SNP C C A rs139157199 by1000genomes TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:187628360C>A ENST00000441802.2 - 2 2831 c.2622G>T c.(2620-2622)acG>acT p.T874T NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 874 Cadherin 7. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TAACAACACCCGTCACGCTGT 0.517000 HNSCC(5;0.00058) 38 117 1.06647e-15 1.78063e-15 1 1 0 HOXB3 3213 broad.mit.edu 37 17 46627886 46627886 + Missense_Mutation SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr17:46627886G>C ENST00000470495.1 - 2 2553 c.1106C>G c.(1105-1107)tCc>tGc p.S369C HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.S237C|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.S235C|HOXB3_ENST00000489475.1_Missense_Mutation_p.S296C|HOXB3_ENST00000485909.2_Missense_Mutation_p.S237C|HOXB3_ENST00000498678.1_Missense_Mutation_p.S369C|HOXB3_ENST00000476342.1_Missense_Mutation_p.S369C|HOXB3_ENST00000472863.1_Missense_Mutation_p.S296C|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.S369C P14651 HXB3_HUMAN homeobox B3 369 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 GCCATAGAGGGAGGGGCCGGC 0.716000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 44 0 0 1 0 0 ETV7 51513 broad.mit.edu 37 6 36336760 36336760 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr6:36336760C>A ENST00000373738.1 - 5 1433 c.588G>T c.(586-588)aaG>aaT p.K196N ETV7_ENST00000538992.1_Missense_Mutation_p.K100N|ETV7_ENST00000373737.4_Missense_Mutation_p.K174N|ETV7_ENST00000340181.4_Missense_Mutation_p.K251N|ETV7_ENST00000339796.5_Missense_Mutation_p.K251N NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 251 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 CTCGGAAGATCTTGGCGTCCT 0.532000 22 110 6.44725e-10 9.34602e-10 1 1 0 PTPRT 11122 broad.mit.edu 37 20 40877379 40877379 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr20:40877379G>T ENST00000373198.3 - 15 2552 c.2317C>A c.(2317-2319)Ctc>Atc p.L773I PTPRT_ENST00000373184.1_Missense_Mutation_p.L754I|PTPRT_ENST00000373193.3_Missense_Mutation_p.L754I|PTPRT_ENST00000373201.1_Missense_Mutation_p.L754I|PTPRT_ENST00000356100.2_Missense_Mutation_p.L773I|PTPRT_ENST00000373190.1_Missense_Mutation_p.L754I|PTPRT_ENST00000373187.1_Missense_Mutation_p.L754I NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 754 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AACATGAGGAGGCCAGCGATC 0.557000 10 70 2.17888e-05 2.59522e-05 1 1 0 KIAA1551 55196 broad.mit.edu 37 12 32135427 32135427 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr12:32135427G>T ENST00000312561.4 + 4 1952 c.1538G>T c.(1537-1539)cGg>cTg p.R513L KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 TCTGAAAAGCGGCCAATGCCA 0.393000 17 62 5.01169e-05 5.85742e-05 1 1 0 LY75 4065 broad.mit.edu 37 2 160706611 160706611 + Missense_Mutation SNP T T G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr2:160706611T>G ENST00000263636.4 - 23 3057 c.3030A>C c.(3028-3030)ttA>ttC p.L1010F LY75_ENST00000553424.1_Missense_Mutation_p.L1010F|LY75_ENST00000554112.1_Missense_Mutation_p.L1010F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L1010F|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L1010F NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) AACCAATCCATAAAGTAGCTT 0.338000 7 50 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17046595 17046595 + RNA SNP T T C rs3856293 by1000genomes TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:17046595T>C ENST00000492551.1 - 0 57 NR_026567.1 TTCACCACCTTGGGGTGGCCA 0.592000 10 102 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161790885 161790885 + Missense_Mutation SNP C C G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:161790885C>G ENST00000367942.3 + 9 1188 c.1121C>G c.(1120-1122)cCa>cGa p.P374R NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 374 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) GTCCCTAGTCCAAAGCGAAGA 0.333000 12 56 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262144 45262144 + Missense_Mutation SNP G G A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr5:45262144G>A ENST00000303230.4 - 8 2609 c.2552C>T c.(2551-2553)cCc>cTc p.P851L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 851 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TCGGTTCGGGGGGATGGCTCC 0.642000 23 72 0 0 1 0 0 PDCL 5082 broad.mit.edu 37 9 125582702 125582702 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr9:125582702C>T ENST00000259467.4 - 4 733 c.568G>A c.(568-570)Gat>Aat p.D190N NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 190 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 GGAATGCCATCCTCATAAATA 0.443000 24 68 0 0 1 0 0 ABHD13 84945 broad.mit.edu 37 13 108881948 108881948 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr13:108881948G>T ENST00000375898.3 + 2 683 c.382G>T c.(382-384)Ggt>Tgt p.G128C NM_032859.2 NP_116248.2 Q7L211 ABHDD_HUMAN abhydrolase domain containing 13 128 integral to membrane hydrolase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) AGGCAACATAGGTCACAGGTT 0.378000 16 65 2.31682e-05 2.72482e-05 1 1 0 RPL6 6128 broad.mit.edu 37 12 112843080 112843080 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr12:112843080C>A ENST00000424576.2 - 7 1000 c.815G>T c.(814-816)cGa>cTa p.R272L RPL6_ENST00000202773.9_Missense_Mutation_p.R272L NM_001024662.1 NP_001019833.1 Q02878 RL6_HUMAN ribosomal protein L6 272 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome cervix(1)|large_intestine(6)|lung(3) 10 AAACACAGATCGCAGGTAGCC 0.383000 11 32 4.68919e-08 6.13202e-08 1 1 0 FGD5 152273 broad.mit.edu 37 3 14861278 14861278 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr3:14861278G>T ENST00000285046.5 + 1 810 c.700G>T c.(700-702)Ggt>Tgt p.G234C FGD5_ENST00000543601.1_5'UTR NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 234 Glu-rich. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TGAGGGTTCGGGTCCTGACAG 0.667000 4 14 0.00024832 0.000279734 1 1 0 CDHR1 92211 broad.mit.edu 37 10 85973960 85973960 + Silent SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr10:85973960C>A ENST00000372117.3 + 17 2266 c.2163C>A c.(2161-2163)acC>acA p.T721T CDHR1_ENST00000440770.2_Silent_p.T425T|CDHR1_ENST00000332904.3_Intron NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 721 homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 TCATCTCCACCGCCACCTTCT 0.637000 68 90 5.85407e-19 1.00432e-18 1 1 0 NAV3 89795 broad.mit.edu 37 12 78400264 78400264 + Missense_Mutation SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr12:78400264G>C ENST00000397909.2 + 8 1119 c.946G>C c.(946-948)Ggg>Cgg p.G316R NAV3_ENST00000228327.6_Missense_Mutation_p.G316R|NAV3_ENST00000536525.2_Missense_Mutation_p.G316R|NAV3_ENST00000266692.7_Missense_Mutation_p.G316R Q8IVL0 NAV3_HUMAN neuron navigator 3 316 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAGTACTGCTGGGCAGCCTCC 0.512000 HNSCC(70;0.22) 24 67 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147336349 147336349 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr7:147336349G>T ENST00000361727.3 + 13 2565 c.2049G>T c.(2047-2049)gaG>gaT p.E683D NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 683 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGTACTGCGAGCAGTATGTCT 0.468000 HNSCC(39;0.1) 9 57 0.00829132 0.00880953 1 1 0 PSD 5662 broad.mit.edu 37 10 104174690 104174690 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr10:104174690C>T ENST00000020673.5 - 4 1580 c.1054G>A c.(1054-1056)Gag>Aag p.E352K PSD_ENST00000406432.1_Missense_Mutation_p.E352K NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 352 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TCGTCGTCCTCATCCTCATTG 0.672000 8 79 0 0 1 0 0 JAG2 3714 broad.mit.edu 37 14 105609326 105609326 + Silent SNP C C T rs138779386 byFrequency TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr14:105609326C>T ENST00000331782.3 - 26 3826 c.3423G>A c.(3421-3423)ccG>ccA p.P1141P JAG2_ENST00000347004.2_Silent_p.P1103P NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 1141 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) TGTGGCCCCCCGGCCGCTCAA 0.731000 6 28 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17597662 17597662 + Missense_Mutation SNP C C A rs140529865 TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:17597662C>A ENST00000375460.3 + 9 1076 c.1036C>A c.(1036-1038)Cgc>Agc p.R346S NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 346 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CCGCAACGACCGCTGGATCCA 0.617000 12 22 6.40141e-05 7.43518e-05 1 1 0 NOS1AP 9722 broad.mit.edu 37 1 162336934 162336934 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:162336934C>T ENST00000493151.1 + 2 2680 c.313C>T c.(313-315)Cat>Tat p.H105Y NOS1AP_ENST00000361897.5_Missense_Mutation_p.H400Y|NOS1AP_ENST00000530878.1_Missense_Mutation_p.H395Y|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.H86Y|NOS1AP_ENST00000454693.1_3'UTR NM_001126060.1 NP_001119532.2 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 400 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) AGAGGACCTGCATTCGCCGCC 0.667000 44 167 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 16004603 16004603 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr17:16004603C>T ENST00000268712.3 - 20 2908 c.2651G>A c.(2650-2652)aGc>aAc p.S884N NCOR1_ENST00000395851.1_Missense_Mutation_p.S900N|NCOR1_ENST00000395848.1_Missense_Mutation_p.S791N NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 884 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTCATCAGCGCTGCACGTGGC 0.537000 31 77 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 4 11 0.150653 0.152282 1 1 0 HRNR 388697 broad.mit.edu 37 1 152193403 152193403 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:152193403G>T ENST00000368801.2 - 3 777 c.702C>A c.(700-702)caC>caA p.H234Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 234 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTAGACTTGTGTTGACTAA 0.552000 178 260 7.71273e-65 1.38681e-64 1 1 0 CHST2 9435 broad.mit.edu 37 3 142841203 142841203 + Missense_Mutation SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr3:142841203G>C ENST00000309575.3 + 2 2929 c.1545G>C c.(1543-1545)gaG>gaC p.E515D NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 515 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 ACAGCCCTGAGGAGGTCAAAG 0.577000 12 22 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136594980 136594980 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr9:136594980C>A ENST00000371872.4 - 6 1079 c.822G>T c.(820-822)tgG>tgT p.W274C SARDH_ENST00000439388.1_Missense_Mutation_p.W274C|SARDH_ENST00000371867.1_Missense_Mutation_p.W185C|SARDH_ENST00000422262.2_Missense_Mutation_p.W106C|SARDH_ENST00000298628.5_Missense_Mutation_p.W274C NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 274 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CAGCACTTGCCCACACTCCTG 0.637000 8 27 0.00307968 0.0033289 1 1 0 FGF12 2257 broad.mit.edu 37 3 192053249 192053249 + Silent SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr3:192053249G>T ENST00000454309.2 - 3 1140 c.315C>A c.(313-315)ctC>ctA p.L105L FGF12_ENST00000450716.1_Silent_p.L43L|FGF12_ENST00000264730.3_Silent_p.L43L|FGF12_ENST00000430714.1_Silent_p.L6L|FGF12_ENST00000445105.1_Silent_p.L43L NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 105 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TTAGATTGAAGAGAGCTGGGG 0.428000 16 51 1.15088e-07 1.48424e-07 1 1 0 ARHGEF6 9459 broad.mit.edu 37 X 135761737 135761737 + Missense_Mutation SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:135761737G>C ENST00000250617.6 - 16 2992 c.1787C>G c.(1786-1788)cCt>cGt p.P596R ARHGEF6_ENST00000370622.1_Missense_Mutation_p.P442R|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.P469R|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.P442R NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 596 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) TGGAGGTGCAGGTCGTAGACA 0.428000 27 109 0 0 1 0 0 LYSMD2 256586 broad.mit.edu 37 15 52017012 52017012 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr15:52017012C>T ENST00000267838.3 - 2 1094 c.580G>A c.(580-582)Gcc>Acc p.A194T LYSMD2_ENST00000560491.1_Missense_Mutation_p.A103T|LYSMD2_ENST00000558126.1_Missense_Mutation_p.A87T|LYSMD2_ENST00000454181.2_Missense_Mutation_p.A103T NM_153374.2 NP_699205.1 Q8IV50 LYSM2_HUMAN LysM, putative peptidoglycan-binding, domain containing 2 194 cell wall macromolecule catabolic process lung(2)|upper_aerodigestive_tract(1) 3 all cancers(107;0.00258) AGCTTCTTGGCTGCCTGTGTT 0.428000 15 49 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 8013540 8013540 + Missense_Mutation SNP T T G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr17:8013540T>G ENST00000380149.1 - 9 1673 c.1643A>C c.(1642-1644)aAg>aCg p.K548T ALOXE3_ENST00000318227.3_Missense_Mutation_p.K524T|ALOXE3_ENST00000448843.2_Missense_Mutation_p.K392T Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 392 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 CACCCACGTCTTGGCCAGCAG 0.617000 OREG0024154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 24 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151945602 151945602 + Silent SNP G G A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr7:151945602G>A ENST00000355193.2 - 14 2135 c.1917C>T c.(1915-1917)ggC>ggT p.G639G KMT2C_ENST00000262189.6_Silent_p.G639G lysine (K)-specific methyltransferase 2C TTTGATCTTCGCCACAAATAT 0.373000 9 53 0 0 1 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32891124 32891124 + RNA SNP C C G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr16:32891124C>G ENST00000330048.5 - 0 2925 NR_003083.2 TCACATCAGTCACCATGGAGA 0.582000 13 83 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411695 51411695 + Nonsense_Mutation SNP A A T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr11:51411695A>T ENST00000319760.6 - 1 753 c.701T>A c.(700-702)tTg>tAg p.L234* NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) GCAGGTAGACAAGGCTTTACC 0.413000 18 89 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143140 55143140 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr19:55143140C>A ENST00000396331.1 + 5 617 c.260C>A c.(259-261)tCc>tAc p.S87Y LILRB1_ENST00000396332.4_Missense_Mutation_p.S87Y|LILRB1_ENST00000427581.2_Missense_Mutation_p.S123Y|LILRB1_ENST00000418536.2_Missense_Mutation_p.S87Y|LILRB1_ENST00000396327.3_Missense_Mutation_p.S87Y|LILRB1_ENST00000396315.1_Missense_Mutation_p.S87Y|LILRB1_ENST00000434867.2_Missense_Mutation_p.S87Y|LILRB1_ENST00000324602.7_Missense_Mutation_p.S87Y|LILRB1_ENST00000396317.1_Missense_Mutation_p.S87Y|LILRB1_ENST00000396321.2_Missense_Mutation_p.S87Y|LILRB1_ENST00000448689.1_Missense_Mutation_p.S87Y NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 87 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCCATCCCATCCATCACCTGG 0.552000 HNSCC(37;0.09) 40 145 2.52637e-11 3.80993e-11 1 1 0 SLC39A4 55630 broad.mit.edu 37 8 145638293 145638293 + Silent SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr8:145638293C>A ENST00000276833.5 - 10 1893 c.1590G>T c.(1588-1590)gtG>gtT p.V530V SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_Silent_p.V555V NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 555 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) GTGCTTGGCGCACGGACAGCC 0.672000 6 22 0.217242 0.21841 1 1 0 PCDH7 5099 broad.mit.edu 37 4 30921781 30921781 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:30921781C>T ENST00000543491.1 + 2 3181 c.3181C>T c.(3181-3183)Cgt>Tgt p.R1061C PCDH7_ENST00000509925.1_3'UTR O60245 PCDH7_HUMAN protocadherin 7 0 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 GCAGCCATTTCGTAGAGTGAC 0.403000 13 36 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129190043 129190043 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:129190043G>T ENST00000540052.1 + 12 5112 c.5068G>T c.(5068-5070)Gtg>Ttg p.V1690L BCORL1_ENST00000303743.5_Missense_Mutation_p.V1764L|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1560L|BCORL1_ENST00000218147.7_Missense_Mutation_p.V1690L NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1690 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TGTGGAGCTGGTGCGGTACGA 0.612000 23 59 1.55795e-14 2.49005e-14 1 1 0 CKAP5 9793 broad.mit.edu 37 11 46776449 46776449 + Missense_Mutation SNP T T A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr11:46776449T>A ENST00000529230.1 - 36 4904 c.4858A>T c.(4858-4860)Aac>Tac p.N1620Y CKAP5_ENST00000415402.1_Missense_Mutation_p.N1620Y|CKAP5_ENST00000354558.3_Intron|CKAP5_ENST00000312055.5_Intron Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1620 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GAAATCATGTTGCCAATGATA 0.448000 27 101 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382919 22382919 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr15:22382919G>T ENST00000328795.4 + 1 538 c.447G>T c.(445-447)tgG>tgT p.W149C RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGGCTCTGTGGCTTGGGGGTT 0.532000 36 115 2.95478e-19 5.11614e-19 1 1 0 EGR4 1961 broad.mit.edu 37 2 73519483 73519483 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr2:73519483G>T ENST00000545030.1 - 2 946 c.872C>A c.(871-873)gCg>gAg p.A291E EGR4_ENST00000436467.2_Missense_Mutation_p.A188E NM_001965.3 NP_001956.3 B7ZKU3 B7ZKU3_HUMAN early growth response 4 187 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGCGGGAGGCGCCCGGAGGCC 0.711000 5 4 8.12818e-05 9.38253e-05 1 1 0 TK1 7083 broad.mit.edu 37 17 76171214 76171214 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr17:76171214C>T ENST00000588734.1 - 6 668 c.430G>A c.(430-432)Gag>Aag p.E144K TK1_ENST00000590862.1_Missense_Mutation_p.E144K|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000405273.1_Missense_Mutation_p.E144K|TK1_ENST00000301634.7_Missense_Mutation_p.E144K P04183 KITH_HUMAN thymidine kinase 1, soluble 144 DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|thymidine kinase activity|zinc ion binding endometrium(1)|large_intestine(1)|urinary_tract(2) 4 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23) ACCACGCTCTCGGCCAGCGGC 0.597000 12 26 0 0 1 0 0 OR2H2 7932 broad.mit.edu 37 6 29556028 29556028 + Silent SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr6:29556028C>T ENST00000383640.2 + 1 346 c.307C>T c.(307-309)Ctg>Ttg p.L103L GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 103 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 CTTCATCTTCCTGTCCCTGGG 0.547000 20 102 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113398949 113398949 + Silent SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr12:113398949C>A ENST00000228928.7 + 8 1910 c.1731C>A c.(1729-1731)ggC>ggA p.G577G RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 577 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GCCAGGAGGGCGAGCATAAGG 0.562000 5 15 0.014758 0.0155042 1 1 0 PTCHD1 139411 broad.mit.edu 37 X 23411312 23411312 + Nonsense_Mutation SNP C C G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chrX:23411312C>G ENST00000379361.4 + 3 2537 c.1677C>G c.(1675-1677)taC>taG p.Y559* NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 559 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 TTGGGTTTTACATATATGAGT 0.413000 34 110 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5990110 5990110 + Translation_Start_Site SNP C C A rs4689287 by1000genomes TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:5990110C>A ENST00000324058.5 - 0 56 C4orf50_ENST00000531445.1_Missense_Mutation_p.Q463H Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 GAGCTTGCCCCTGAGCCACAG 0.547000 4 31 0.00024832 0.000279734 1 1 0 FAM71A 149647 broad.mit.edu 37 1 212798865 212798865 + Nonsense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:212798865C>T ENST00000294829.3 + 1 1077 c.646C>T c.(646-648)Cag>Tag p.Q216* RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 216 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) AAAGGGGGATCAGGACCAGGT 0.547000 37 148 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117027919 117027919 + Missense_Mutation SNP A A G TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr10:117027919A>G ENST00000355044.3 + 13 2224 c.2098A>G c.(2098-2100)Atg>Gtg p.M700V NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 700 PSI 2. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TAACTGCAGTATGGTTAGTAT 0.383000 29 30 0 0 1 0 0 UGT1A7 54577 broad.mit.edu 37 2 234590605 234590605 + Missense_Mutation SNP G G T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr2:234590605G>T ENST00000373426.3 + 1 22 c.22G>T c.(22-24)Ggc>Tgc p.G8C UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) AGGGTGGACTGGCCTCCTTCC 0.527000 OREG0003832 type=REGULATORY REGION|Gene=UGT1A7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 44 90 1.32136e-16 2.22607e-16 1 1 0 POLR2A 5430 broad.mit.edu 37 17 7404339 7404339 + Silent SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr17:7404339C>T ENST00000322644.6 + 12 2361 c.1962C>T c.(1960-1962)caC>caT p.H654H NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 654 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) CCCTGGTCCACATCTCCTACC 0.532000 9 81 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130425702 130425702 + Missense_Mutation SNP C C T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr6:130425702C>T ENST00000529410.1 + 21 2347 c.1868C>T c.(1867-1869)tCt>tTt p.S623F L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S623F|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S598F|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S623F|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S598F|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S598F Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 623 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AATGAAAGCTCTTCTTCCCCT 0.343000 18 66 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133900507 133900507 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr8:133900507C>A ENST00000220616.4 + 10 2495 c.2455C>A c.(2455-2457)Ctc>Atc p.L819I TG_ENST00000377869.1_Missense_Mutation_p.L819I NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 819 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AAACTTCAGTCTCTTTATTCA 0.522000 17 54 9.16793e-09 1.25139e-08 1 1 0 UBQLN3 50613 broad.mit.edu 37 11 5529959 5529959 + Missense_Mutation SNP G G A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr11:5529959G>A ENST00000311659.4 - 2 977 c.830C>T c.(829-831)cCc>cTc p.P277L HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 277 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTGGCAAAGGGATTGCCGCC 0.512000 16 111 0 0 1 0 0 IGSF8 93185 broad.mit.edu 37 1 160063082 160063082 + Missense_Mutation SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:160063082C>A ENST00000368086.1 - 4 1160 c.944G>T c.(943-945)cGg>cTg p.R315L IGSF8_ENST00000314485.7_Missense_Mutation_p.R315L Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 315 Ig-like C2-type 3. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGGGCCGATCCGACGTTCACC 0.617000 7 48 2.7689e-08 3.72506e-08 1 1 0 STK10 6793 broad.mit.edu 37 5 171482780 171482780 + Splice_Site SNP C C A TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr5:171482780C>A ENST00000176763.5 - 16 2681 c.2337_splice c.e16-1 p.E780_splice NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 780 Gln-rich. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGCTCCCGCTCCTGGAGAGGA 0.612000 10 34 0.00621372 0.0066398 1 1 0 FMO3 2328 broad.mit.edu 37 1 171083346 171083346 + Missense_Mutation SNP A A T TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:171083346A>T ENST00000367755.4 + 7 1138 c.1027A>T c.(1027-1029)Atc>Ttc p.I343F FMO3_ENST00000542847.1_Missense_Mutation_p.I323F|FMO3_ENST00000392085.2_Missense_Mutation_p.I343F|FMO3_ENST00000538429.1_Missense_Mutation_p.I280F NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 343 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGAGTCTATCATCAAAAGCAG 0.418000 18 80 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 6 7 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 7 14 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 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) ACGCTggtggtggcggcggcgg 0.762 4 4 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113822775 113822775 + Frame_Shift_Del DEL G G - TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr5:113822775delG ENST00000512097.3 + 7 2301 c.1283delG c.(1282-1284)agfs p.R428fs KCNN2_ENST00000503706.1_Frame_Shift_Del_p.R80fs|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Frame_Shift_Del_p.R428fs Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 428 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) AATGTACTCAGGGAAACATGG 0.358 10 24 --- --- --- --- UGCG 7357 broad.mit.edu 37 9 114687101 114687101 + Frame_Shift_Del DEL C C - TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr9:114687101delC ENST00000374279.3 + 4 838 c.388delC c.(388-390)cafs p.P130fs UGCG_ENST00000495085.1_3'UTR NM_003358.1 NP_003349.1 Q16739 CEGT_HUMAN UDP-glucose ceramide glucosyltransferase 130 epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) TAATTTAATGCCAGGATATGA 0.244 2 4 --- --- --- --- MC5R 4161 broad.mit.edu 37 18 13826277 13826277 + Frame_Shift_Del DEL G G - TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr18:13826277delG ENST00000324750.3 + 1 735 c.513delG c.(511-513)acfs p.T171fs NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 171 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 CTTTCTGCACGGGCTGCGGCA 0.567 8 463 --- --- --- --- HKR1 284459 broad.mit.edu 37 19 37853914 37853919 + In_Frame_Del DEL CACATT CACATT - TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr19:37853914_37853919delCACATT ENST00000591471.1 + 9 2039_2044 c.398_403delCACATT c.(397-405)aca>a p.THS133del HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_In_Frame_Del_p.THS388del|HKR1_ENST00000544914.1_In_Frame_Del_p.THS133del|HKR1_ENST00000541583.2_In_Frame_Del_p.THS345del|HKR1_ENST00000392153.3_In_Frame_Del_p.THS387del|HKR1_ENST00000324411.4_In_Frame_Del_p.THS406del P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 406 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CACAAGAGGACACATTCAGGAGAGAA 0.519 17 134 --- --- --- --- AP001604.3 0 broad.mit.edu 37 21 28793489 28793490 + RNA INS - - T rs144948060 TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca00df38-78b5-4d6a-b496-caea39b8295d 5bc11e96-fbe0-4f14-8720-1bcc96950133 g.chr21:28793489_28793490insT ENST00000420186.2 - 0 202 atttttttttcttttttttttt 0.347 3 4 --- --- --- ---