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 DISC1 27185 broad.mit.edu 37 1 232144704 232144704 + Missense_Mutation SNP A A G TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr1:232144704A>G ENST00000439617.2 + 11 2269 c.2216A>G c.(2215-2217)gAg>gGg p.E739G DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000366637.3_Missense_Mutation_p.E71G|DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000535983.1_3'UTR NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 739 Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) CTCCACTCCGAGGATAAAAGG 0.537 5 10 --- --- --- --- SIX3 6496 broad.mit.edu 37 2 45170030 45170030 + Missense_Mutation SNP G G A TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr2:45170030G>A ENST00000260653.3 + 1 1129 c.787G>A c.(787-789)Gcc>Acc p.A263T NM_005413.3 NP_005404.1 O95343 SIX3_HUMAN SIX homeobox 3 263 Poly-Ala. visual perception nucleus haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1) 11 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GCGCGACCGCGCCGCGGCGGC 0.677 5 12 --- --- --- --- RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373 4 237 --- --- --- --- DNAJC10 54431 broad.mit.edu 37 2 183622509 183622509 + Missense_Mutation SNP A A G TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr2:183622509A>G ENST00000264065.7 + 19 2315 c.1900A>G c.(1900-1902)Ata>Gta p.I634V NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 Thioredoxin 3. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ATACCCTGAGATAAGATTTTT 0.308 3 34 --- --- --- --- SPAG16 79582 broad.mit.edu 37 2 214174863 214174863 + Missense_Mutation SNP G G C TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr2:214174863G>C ENST00000413312.1 + 3 513 c.267G>C c.(265-267)atG>atC p.M89I SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000331683.5_Missense_Mutation_p.M120I|SPAG16_ENST00000432529.2_Missense_Mutation_p.M120I|SPAG16_ENST00000447990.1_Missense_Mutation_p.M120I|SPAG16_ENST00000272898.7_Missense_Mutation_p.M120I Q8N0X2 SPG16_HUMAN sperm associated antigen 16 120 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TGATCAAAATGGGAATGACCA 0.318 7 41 --- --- --- --- HAPLN1 1404 broad.mit.edu 37 5 82937445 82937445 + Missense_Mutation SNP C C T TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr5:82937445C>T ENST00000274341.4 - 5 1785 c.935G>A c.(934-936)gGc>gAc p.G312D NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 312 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GCGGACGCTGCCATCCGCCAA 0.532 24 96 --- --- --- --- PCDHGA6 56109 broad.mit.edu 37 5 140756065 140756065 + Missense_Mutation SNP G G T TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr5:140756065G>T ENST00000517434.1 + 1 2415 c.2415G>T c.(2413-2415)agG>agT p.R805S PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAACCCAGGCAACTTCAGG 0.478 11 28 --- --- --- --- HEPACAM2 253012 broad.mit.edu 37 7 92838015 92838015 + Missense_Mutation SNP G G A TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr7:92838015G>A ENST00000394468.2 - 4 967 c.890C>T c.(889-891)cCt>cTt p.P297L HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P285L|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P285L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P320L NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 297 Ig-like C2-type 2. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TTCTAAGCGAGGCCCATGCTT 0.448 18 48 --- --- --- --- BAG1 573 broad.mit.edu 37 9 33262714 33262714 + Missense_Mutation SNP T T A TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr9:33262714T>A ENST00000472232.3 - 2 652 c.566A>T c.(565-567)aAa>aTa p.K189I BAG1_ENST00000379704.2_Missense_Mutation_p.K74I NM_001172415.1|NM_004323.5 NP_001165886.1|NP_004314 Q99933 BAG1_HUMAN BCL2-associated athanogene 189 Interaction with HSPA8.|Ubiquitin-like. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding cytoplasm|intermediate filament cytoskeleton|nucleus protein binding|receptor signaling protein activity endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00506) AAATATGAGTTTCTGAAAAGA 0.438 5 25 --- --- --- --- ODF2 4957 broad.mit.edu 37 9 131231507 131231507 + Silent SNP C C T TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr9:131231507C>T ENST00000434106.3 + 5 658 c.295C>T c.(295-297)Ctg>Ttg p.L99L ODF2_ENST00000546203.1_Silent_p.L80L|ODF2_ENST00000444119.2_Silent_p.L75L|ODF2_ENST00000351030.3_Silent_p.L94L|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000393527.3_Silent_p.L75L|ODF2_ENST00000372814.3_Silent_p.L143L|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000604420.1_Silent_p.L99L|ODF2_ENST00000372791.3_Silent_p.L80L|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372807.5_Silent_p.L94L|ODF2_ENST00000393533.2_Silent_p.L99L NM_153433.1 NP_702911.1 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 TTCAGAAAAGCTGGTCTCAGT 0.443 10 38 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55955442 55955442 + Splice_Site SNP C C T TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr10:55955442C>T ENST00000373965.2 - 11 1700 c.e11+1 PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATTTAACTTACATCTTCTATG 0.368 HNSCC(58;0.16) 12 26 --- --- --- --- MEN1 4221 broad.mit.edu 37 11 64575501 64575501 + Missense_Mutation SNP A A T TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr11:64575501A>T ENST00000337652.1 - 3 1034 c.531T>A c.(529-531)gaT>gaA p.D177E MEN1_ENST00000394376.1_Missense_Mutation_p.D177E|MEN1_ENST00000377321.1_Missense_Mutation_p.D172E|MEN1_ENST00000394374.2_Missense_Mutation_p.D177E|MEN1_ENST00000312049.6_Missense_Mutation_p.D172E|MEN1_ENST00000377326.3_Missense_Mutation_p.D172E|MEN1_ENST00000377313.1_Missense_Mutation_p.D177E|MEN1_ENST00000443283.1_Missense_Mutation_p.D177E|MEN1_ENST00000315422.4_Missense_Mutation_p.D172E|MEN1_ENST00000377316.2_Missense_Mutation_p.D172E NM_130803.2 NP_570715 O00255 MEN1_HUMAN multiple endocrine neoplasia I 177 D -> Y (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.A167fs*10(1) NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CGAGGTGGACATCCCGGAGAC 0.622 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 8 18 --- --- --- --- HOXC4 3221 broad.mit.edu 37 12 54448678 54448678 + Missense_Mutation SNP G G C TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr12:54448678G>C ENST00000430889.2 + 2 530 c.484G>C c.(484-486)Gcc>Ccc p.A162P HOXC4_ENST00000303406.4_Missense_Mutation_p.A162P|HOXC4_ENST00000609810.1_Missense_Mutation_p.A162P NM_153633.2 NP_705897.1 P09017 HXC4_HUMAN homeobox C4 162 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 CTCGAGGACAGCCTATACCCG 0.572 7 22 --- --- --- --- RNF17 56163 broad.mit.edu 37 13 25348980 25348980 + Silent SNP C C T TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr13:25348980C>T ENST00000255324.5 + 3 307 c.255C>T c.(253-255)cgC>cgT p.R85R RNF17_ENST00000381921.1_Silent_p.R85R|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Silent_p.R85R NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 85 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTAGACAACGCTACTACCCAA 0.353 5 26 --- --- --- --- LCP1 3936 broad.mit.edu 37 13 46733779 46733779 + Missense_Mutation SNP A A G TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr13:46733779A>G ENST00000398576.2 - 5 407 c.19T>C c.(19-21)Tcc>Ccc p.S7P LCP1_ENST00000323076.2_Missense_Mutation_p.S7P|LCP1_ENST00000460190.1_5'UTR P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 7 regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TCCTCATCGGACACTGATCCT 0.403 T BCL6 NHL 10 39 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696689 47696689 + Missense_Mutation SNP A A T TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr17:47696689A>T ENST00000393331.3 - 6 729 c.259T>A c.(259-261)Tac>Aac p.Y87N SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 87 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.Y87N(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AGTAACAGGTAAAGTGACAGG 0.403 Prostate(2;0.17) 19 55 --- --- --- --- MBD1 4152 broad.mit.edu 37 18 47801395 47801395 + Silent SNP G G A TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr18:47801395G>A ENST00000591416.1 - 10 1361 c.930C>T c.(928-930)ccC>ccT p.P310P MBD1_ENST00000457839.2_Silent_p.P335P|MBD1_ENST00000269468.5_Silent_p.P310P|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000585595.1_Silent_p.P335P|MBD1_ENST00000398493.1_Silent_p.P310P|MBD1_ENST00000349085.2_Silent_p.P310P|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000585672.1_Silent_p.P261P|MBD1_ENST00000590208.1_Silent_p.P310P|MBD1_ENST00000382948.5_Silent_p.P310P|MBD1_ENST00000339998.6_Silent_p.P310P|MBD1_ENST00000398488.1_Silent_p.P310P|MBD1_ENST00000424334.2_Silent_p.P361P|MBD1_ENST00000398495.2_Silent_p.P335P|MBD1_ENST00000347968.3_Silent_p.P310P|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000353909.3_Silent_p.P261P|MBD1_ENST00000587605.1_Silent_p.P310P Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 310 Pro-rich. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CAGGTGGCGAGGGGGCCAGGG 0.602 7 30 --- --- --- --- ZNF285 26974 broad.mit.edu 37 19 44891979 44891979 + Missense_Mutation SNP T T C TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr19:44891979T>C ENST00000330997.4 - 4 492 c.428A>G c.(427-429)cAg>cGg p.Q143R ZNF285_ENST00000544719.2_Missense_Mutation_p.Q143R|ZNF285_ENST00000591679.1_Missense_Mutation_p.Q150R|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 GGTAAGAACCTGTGTCAGGCT 0.413 26 104 --- --- --- --- TBC1D17 79735 broad.mit.edu 37 19 50386969 50386969 + Missense_Mutation SNP A A C TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr19:50386969A>C ENST00000221543.5 + 10 1392 c.1093A>C c.(1093-1095)Aac>Cac p.N365H TBC1D17_ENST00000535102.2_Missense_Mutation_p.N332H NM_024682.2 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 365 Rab-GAP TBC. intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) GGAGCGGAGAAACTCACTTCT 0.567 10 39 --- --- --- --- ZNF468 90333 broad.mit.edu 37 19 53344800 53344800 + Silent SNP G G A TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr19:53344800G>A ENST00000595646.1 - 4 867 c.747C>T c.(745-747)ggC>ggT p.G249G ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.G196G|ZNF468_ENST00000396409.4_Silent_p.G196G Q5VIY5 ZN468_HUMAN zinc finger protein 468 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TAAAGACCTTGCCACATACAT 0.378 12 45 --- --- --- --- NLRP4 147945 broad.mit.edu 37 19 56369989 56369989 + Silent SNP C C T TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr19:56369989C>T ENST00000301295.6 + 3 1652 c.1230C>T c.(1228-1230)gaC>gaT p.D410D NLRP4_ENST00000346986.5_Silent_p.D410D|NLRP4_ENST00000587891.1_Silent_p.D335D NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 410 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGTGGACAGACACATTTGAGT 0.577 18 39 --- --- --- --- MYO18B 84700 broad.mit.edu 37 22 26422469 26422469 + Missense_Mutation SNP G G A TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr22:26422469G>A ENST00000335473.7 + 43 6779 c.6529G>A c.(6529-6531)Gcc>Acc p.A2177T MYO18B_ENST00000536101.1_Missense_Mutation_p.A2177T|MYO18B_ENST00000407587.2_Missense_Mutation_p.A2178T NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2177 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ACTGAGCAGAGCCCGGTCCAC 0.527 19 67 --- --- --- --- XIST 7503 broad.mit.edu 37 X 73062517 73062517 + RNA SNP C C T TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chrX:73062517C>T ENST00000429829.1 - 0 10071 NR_001564.2 AGAAGCAATGCGAAAGGAAGT 0.438 4 9 --- --- --- --- CASZ1 54897 broad.mit.edu 37 1 10725511 10725511 + Frame_Shift_Del DEL T T - TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e71e87aa-f13b-4617-9571-e24be01192e1 305709c9-bf5c-4706-b377-8030d49361e7 g.chr1:10725511delT ENST00000377022.3 - 5 451 c.134delA c.(133-135)gagfs p.E45fs CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.E45fs NM_001079843.2 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) AGCTCGCTTCTCCACCACCAC 0.721 13 37 --- --- --- ---