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 PRAMEF1 65121 broad.mit.edu 37 1 12854346 12854346 + Silent SNP G G A rs141935528 TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr1:12854346G>A ENST00000332296.7 + 3 673 c.570G>A c.(568-570)acG>acA p.T190T NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 190 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATTATCTAACGCCGATTAAAT 0.408 9 576 --- --- --- --- KAZN 23254 broad.mit.edu 37 1 15386729 15386729 + Silent SNP C C T TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr1:15386729C>T ENST00000376030.2 + 6 1272 c.978C>T c.(976-978)gcC>gcT p.A326A KAZN_ENST00000503743.1_Silent_p.A326A|KAZN_ENST00000400798.2_Silent_p.A232A|KAZN_ENST00000361144.5_Silent_p.A320A|KAZN_ENST00000422387.2_Silent_p.A326A|KAZN_ENST00000400797.3_Silent_p.A232A NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 326 Interaction with PPL. keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 CATCTGCCGCCGAAGGCGACC 0.672 8 102 --- --- --- --- ARHGEF2 9181 broad.mit.edu 37 1 155931510 155931510 + Missense_Mutation SNP C C G TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr1:155931510C>G ENST00000462460.2 - 15 1799 c.1545G>C c.(1543-1545)agG>agC p.R515S ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R469S|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R442S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R442S|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R471S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R470S Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 PH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TGAGTTTGCGCCTCAGAAGTT 0.602 23 33 --- --- --- --- OR10K2 391107 broad.mit.edu 37 1 158390007 158390007 + Missense_Mutation SNP G G T TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr1:158390007G>T ENST00000314902.2 - 1 649 c.650C>A c.(649-651)tCc>tAc p.S217Y NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) GTGAACATAGGACACCAAGAT 0.448 24 39 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158639228 158639228 + Missense_Mutation SNP C C G TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr1:158639228C>G ENST00000368147.4 - 14 1983 c.1803G>C c.(1801-1803)aaG>aaC p.K601N NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 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) CCAACTTTTTCTTCTTGTTGA 0.423 79 140 --- --- --- --- OR2T10 127069 broad.mit.edu 37 1 248756250 248756250 + Missense_Mutation SNP A A G TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr1:248756250A>G ENST00000330500.2 - 1 850 c.820T>C c.(820-822)Tca>Cca p.S274P NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|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;0.0265) AAAAAGGATGACATCATATCT 0.428 20 41 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179430936 179430936 + Missense_Mutation SNP C C A TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr2:179430936C>A ENST00000589042.1 - 326 80147 c.79923G>T c.(79921-79923)aaG>aaT p.K26641N TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17701N|TTN_ENST00000342175.6_Missense_Mutation_p.K17768N|TTN_ENST00000591111.1_Missense_Mutation_p.K25000N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24073N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17576N|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25000 Fibronectin type-III 94. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTTTACTCCCTTTTCAATTT 0.398 4 151 --- --- --- --- PLCL2 23228 broad.mit.edu 37 3 17051267 17051267 + Missense_Mutation SNP G G C TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr3:17051267G>C ENST00000418129.2 + 2 516 c.51G>C c.(49-51)atG>atC p.M17I PLCL2_ENST00000432376.1_Missense_Mutation_p.M17I|PLCL2_ENST00000396755.2_Missense_Mutation_p.M17I|PLCL2_ENST00000460467.1_3'UTR NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 143 Gly-rich. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TTAATTCAATGGTTGAGGGTT 0.423 24 36 --- --- --- --- KLHL18 23276 broad.mit.edu 37 3 47364056 47364056 + Splice_Site SNP A A G TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr3:47364056A>G ENST00000232766.5 + 3 280 c.e3-1 KLHL18_ENST00000455924.2_Splice_Site NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) TCTTTCCTCTAGTGCCCTGGA 0.542 20 22 --- --- --- --- PIK3R4 30849 broad.mit.edu 37 3 130452642 130452642 + Silent SNP T T C TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr3:130452642T>C ENST00000356763.3 - 4 1757 c.1200A>G c.(1198-1200)gaA>gaG p.E400E NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 400 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 GAAGAATCAGTTCCAAAGCAG 0.398 9 98 --- --- --- --- UBXN7 26043 broad.mit.edu 37 3 196089432 196089432 + Nonsense_Mutation SNP C C A TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr3:196089432C>A ENST00000296328.4 - 9 1035 c.961G>T c.(961-963)Gaa>Taa p.E321* UBXN7_ENST00000428095.1_Nonsense_Mutation_p.E159*|UBXN7_ENST00000535858.1_Nonsense_Mutation_p.E173* NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 321 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GAAAAAAGTTCAGATTCAGAT 0.443 49 84 --- --- --- --- C4orf51 646603 broad.mit.edu 37 4 146601567 146601567 + Missense_Mutation SNP A A T TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr4:146601567A>T ENST00000438731.1 + 1 212 c.212A>T c.(211-213)cAg>cTg p.Q71L NM_001080531.1 NP_001074000.1 C9J302 CD051_HUMAN chromosome 4 open reading frame 51 71 haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 6 AGAGCAGGACAGCATGAGCCT 0.398 6 33 --- --- --- --- WDR17 116966 broad.mit.edu 37 4 177032828 177032828 + Missense_Mutation SNP G G A TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr4:177032828G>A ENST00000393643.2 + 2 349 c.97G>A c.(97-99)Gcg>Acg p.A33T WDR17_ENST00000508596.1_Missense_Mutation_p.A33T|WDR17_ENST00000280190.4_Missense_Mutation_p.A57T|WDR17_ENST00000507824.2_Missense_Mutation_p.A57T NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 57 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TGCATATTGTGCGACCCTGGC 0.363 23 44 --- --- --- --- AGA 175 broad.mit.edu 37 4 178352895 178352895 + Missense_Mutation SNP A A T TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr4:178352895A>T ENST00000264595.2 - 9 1135 c.1008T>A c.(1006-1008)aaT>aaA p.N336K NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 336 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) CAGTTGGCTGATTTTTTTCGG 0.368 3 52 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 90078963 90078963 + Missense_Mutation SNP C C G TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr5:90078963C>G ENST00000405460.2 + 66 13350 c.13254C>G c.(13252-13254)atC>atG p.I4418M GPR98_ENST00000425867.2_Missense_Mutation_p.I79M NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4418 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGGGCTGATCATGATCCCAG 0.448 63 112 --- --- --- --- COL10A1 1300 broad.mit.edu 37 6 116442816 116442816 + Missense_Mutation SNP G G A TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr6:116442816G>A ENST00000327673.4 - 2 870 c.463C>T c.(463-465)Cca>Tca p.P155S NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P155S Q03692 COAA1_HUMAN collagen, type X, alpha 1 155 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) GGTTTTCCTGGCACAGAAATT 0.592 17 16 --- --- --- --- XPO7 23039 broad.mit.edu 37 8 21833903 21833903 + Nonsense_Mutation SNP C C T TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr8:21833903C>T ENST00000434536.1 + 7 763 c.661C>T c.(661-663)Cag>Tag p.Q221* XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Nonsense_Mutation_p.Q213*|XPO7_ENST00000252512.9_Nonsense_Mutation_p.Q212* Q9UIA9 XPO7_HUMAN exportin 7 212 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TGATGAAAGTCAGCATGGCTT 0.458 5 106 --- --- --- --- XPO7 23039 broad.mit.edu 37 8 21842352 21842352 + Splice_Site SNP T T A TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr8:21842352T>A ENST00000434536.1 + 12 1600 c.e12+2 XPO7_ENST00000433566.4_Splice_Site|XPO7_ENST00000252512.9_Splice_Site Q9UIA9 XPO7_HUMAN exportin 7 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TGCAGGAGGGTGAGTGTGCAG 0.567 18 21 --- --- --- --- NFX1 4799 broad.mit.edu 37 9 33313652 33313652 + Splice_Site SNP G G T TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr9:33313652G>T ENST00000379540.3 + 7 1511 c.1449G>T c.(1447-1449)agG>agT p.R483S NFX1_ENST00000318524.6_Splice_Site_p.R483S|NFX1_ENST00000379521.4_Splice_Site_p.R483S NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 483 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) GTCTTTACAGGCACACAGTTC 0.478 32 56 --- --- --- --- NFX1 4799 broad.mit.edu 37 9 33313653 33313653 + Splice_Site SNP C C T TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr9:33313653C>T ENST00000379540.3 + 7 1512 c.1450C>T c.(1450-1452)Cac>Tac p.H484Y NFX1_ENST00000318524.6_Splice_Site_p.H484Y|NFX1_ENST00000379521.4_Splice_Site_p.H484Y NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 484 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) TCTTTACAGGCACACAGTTCG 0.483 33 57 --- --- --- --- VCP 7415 broad.mit.edu 37 9 35062992 35062992 + Missense_Mutation SNP A A G TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr9:35062992A>G ENST00000358901.6 - 7 1689 c.794T>C c.(793-795)tTc>tCc p.F265S NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 265 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CAAGAAGAAGAAGGCTCCAGT 0.463 29 86 --- --- --- --- VCP 7415 broad.mit.edu 37 9 35062993 35062993 + Missense_Mutation SNP A A C TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr9:35062993A>C ENST00000358901.6 - 7 1688 c.793T>G c.(793-795)Ttc>Gtc p.F265V NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 265 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AAGAAGAAGAAGGCTCCAGTC 0.468 27 86 --- --- --- --- LINC00264 645528 broad.mit.edu 37 10 26880327 26880327 + RNA SNP T T G TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr10:26880327T>G ENST00000412114.1 + 0 562 NR_026793.1 CCCAAACACATGCTGAAACAT 0.502 12 20 --- --- --- --- MTG1 92170 broad.mit.edu 37 10 135215702 135215702 + Missense_Mutation SNP C C T TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr10:135215702C>T ENST00000468317.2 + 9 893 c.638C>T c.(637-639)gCt>gTt p.A213V MTG1_ENST00000477902.2_Missense_Mutation_p.A167V|MTG1_ENST00000317502.6_Missense_Mutation_p.A208V GGCGTGCTGGCTCCTCGGATT 0.687 60 90 --- --- --- --- SLC17A6 57084 broad.mit.edu 37 11 22380963 22380963 + Missense_Mutation SNP T T A TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr11:22380963T>A ENST00000263160.3 + 4 900 c.463T>A c.(463-465)Ttc>Atc p.F155I NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 155 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TTTCAGGGTTTTCGGAGCTGC 0.358 13 25 --- --- --- --- ATF7 11016 broad.mit.edu 37 12 53927005 53927005 + Missense_Mutation SNP G G C TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr12:53927005G>C ENST00000420353.2 - 7 748 c.599C>G c.(598-600)gCt>gGt p.A200G RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.A200G|ATF7_ENST00000415113.1_Missense_Mutation_p.A179G|ATF7_ENST00000456903.4_Missense_Mutation_p.A200G|ATF7_ENST00000328463.7_Missense_Mutation_p.A211G|ATF7_ENST00000548446.2_Missense_Mutation_p.A211G NM_006856.2 NP_006847.1 P17544 ATF7_HUMAN activating transcription factor 7 211 Transactivation domain. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 CTGTCCATTAGCAAGATGCAT 0.512 20 31 --- --- --- --- PCDH17 27253 broad.mit.edu 37 13 58299039 58299039 + Missense_Mutation SNP G G A TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr13:58299039G>A ENST00000377918.3 + 4 3117 c.3091G>A c.(3091-3093)Gag>Aag p.E1031K NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1031 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) TCTCCTCCAAGAGGTCCCCTC 0.502 4 87 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25465676 25465676 + RNA SNP A A G TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr15:25465676A>G ENST00000424208.1 + 0 3039 SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA NR_003305.1 ATTGTCCTGAAAAGAGGTGAT 0.502 49 109 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72845538 72845538 + Nonsense_Mutation SNP G G A TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr16:72845538G>A ENST00000268489.5 - 7 4474 c.3802C>T c.(3802-3804)Cag>Tag p.Q1268* ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q354* NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1268 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGGTGCAGCTGGAGGTGGATC 0.607 12 19 --- --- --- --- ZNF317 57693 broad.mit.edu 37 19 9270907 9270907 + Missense_Mutation SNP C C T TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr19:9270907C>T ENST00000247956.6 + 7 891 c.586C>T c.(586-588)Cgc>Tgc p.R196C ZNF317_ENST00000360385.3_Missense_Mutation_p.R164C NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 GCCCTATCACCGCCGCGACTA 0.537 9 13 --- --- --- --- BTG1 694 broad.mit.edu 37 12 92537884 92537884 + Frame_Shift_Del DEL T T - TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f255429b-c98f-4c60-ad83-3b67ddb553c5 0958a78b-72c4-4579-8811-b61a2b1178de g.chr12:92537884delT ENST00000256015.3 - 2 849 c.488delA c.(487-489)aacfs p.N163fs NM_001731.2 NP_001722.1 P62324 BTG1_HUMAN B-cell translocation gene 1, anti-proliferative 163 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2) 16 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) CATATTGTAGTTTTTGGAAGG 0.443 T MYC BCLL OREG0022024 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 69 --- --- --- ---