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 TTC22 55001 broad.mit.edu 37 1 55266618 55266618 + Silent SNP G G A TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr1:55266618G>A ENST00000371276.4 - 1 322 c.219C>T c.(217-219)ggC>ggT p.G73G TTC22_ENST00000371274.4_Silent_p.G73G NM_001114108.1 NP_001107580.1 Q5TAA0 TTC22_HUMAN tetratricopeptide repeat domain 22 73 binding kidney(1)|large_intestine(1)|lung(7)|skin(1) 10 ATGCGAAAGCGCCCAGGAGGT 0.711 3 7 --- --- --- --- BIRC6 57448 broad.mit.edu 37 2 32740210 32740210 + Missense_Mutation SNP T T A TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr2:32740210T>A ENST00000421745.2 + 55 10856 c.10722T>A c.(10720-10722)caT>caA p.H3574Q NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3574 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TGCAATGTCATCATAGACTGT 0.418 5 15 --- --- --- --- OR5K3 403277 broad.mit.edu 37 3 98109899 98109899 + Silent SNP G G A TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr3:98109899G>A ENST00000383695.1 + 1 390 c.390G>A c.(388-390)ctG>ctA p.L130L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 GCAACCCACTGCAGTACCACA 0.473 16 67 --- --- --- --- ZNF827 152485 broad.mit.edu 37 4 146686246 146686246 + Missense_Mutation SNP G G A TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr4:146686246G>A ENST00000508784.1 - 13 3351 c.3124C>T c.(3124-3126)Ctc>Ttc p.L1042F ZNF827_ENST00000513320.1_Missense_Mutation_p.L692F|ZNF827_ENST00000379448.4_Missense_Mutation_p.L1042F Q17R98 ZN827_HUMAN zinc finger protein 827 1042 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) CGGGTGATGAGGTGTATCTGC 0.502 8 50 --- --- --- --- PCDHB7 56129 broad.mit.edu 37 5 140553634 140553634 + Missense_Mutation SNP G G C TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr5:140553634G>C ENST00000231137.3 + 1 1392 c.1218G>C c.(1216-1218)gaG>gaC p.E406D NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 406 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTAACAGAGAAACCTTTGG 0.502 11 33 --- --- --- --- HDAC3 8841 broad.mit.edu 37 5 141009253 141009253 + Silent SNP G G C TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr5:141009253G>C ENST00000305264.3 - 6 553 c.474C>G c.(472-474)ctC>ctG p.L158L NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 158 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) CTACTTACTTGAGCAGCTCCA 0.532 9 57 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150922533 150922533 + Missense_Mutation SNP G G C TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr5:150922533G>C ENST00000261800.5 - 9 8167 c.8155C>G c.(8155-8157)Caa>Gaa p.Q2719E NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2719 Cadherin 24. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACTGGATCTTGAGCTGCCACT 0.478 34 72 --- --- --- --- GRIA1 2890 broad.mit.edu 37 5 153144077 153144077 + Missense_Mutation SNP C C A TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr5:153144077C>A ENST00000285900.5 + 12 2250 c.1907C>A c.(1906-1908)gCc>gAc p.A636D GRIA1_ENST00000518142.1_Missense_Mutation_p.A556D|GRIA1_ENST00000340592.5_Missense_Mutation_p.A636D|GRIA1_ENST00000518783.1_Missense_Mutation_p.A646D|GRIA1_ENST00000521843.2_Missense_Mutation_p.A567D|GRIA1_ENST00000448073.4_Missense_Mutation_p.A646D NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 636 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AATCTGGCCGCCTTCCTGACC 0.547 3 47 --- --- --- --- MYLK4 340156 broad.mit.edu 37 6 2680489 2680489 + Nonsense_Mutation SNP G G A TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr6:2680489G>A ENST00000274643.7 - 8 1066 c.724C>T c.(724-726)Caa>Taa p.Q242* MYLK4_ENST00000268446.5_Intron NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 242 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) ATTTTTATTTGCTTAGCATCC 0.418 21 80 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32013021 32013021 + Silent SNP G G A TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr6:32013021G>A ENST00000375244.3 - 32 10890 c.10689C>T c.(10687-10689)acC>acT p.T3563T TNXB_ENST00000375247.2_Silent_p.T3561T|TNXB_ENST00000451343.1_5'UTR P22105 TENX_HUMAN tenascin XB 3608 Fibronectin type-III 27. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGTCGGTCACGGTCAGCACTC 0.647 3 25 --- --- --- --- PAPOLB 56903 broad.mit.edu 37 7 4901353 4901353 + Missense_Mutation SNP G G A TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr7:4901353G>A ENST00000404991.1 - 1 272 c.86C>T c.(85-87)gCg>gTg p.A29V RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 29 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) CTTGGGGACCGCTAGACTGAT 0.627 4 16 --- --- --- --- FREM1 158326 broad.mit.edu 37 9 14805023 14805023 + Missense_Mutation SNP C C A TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr9:14805023C>A ENST00000380881.4 - 20 4220 c.3405G>T c.(3403-3405)gaG>gaT p.E1135D FREM1_ENST00000422223.2_Missense_Mutation_p.E1134D|FREM1_ENST00000380880.3_Missense_Mutation_p.E1134D Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1134 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AAAATGGTATCTCCAAGGAGT 0.413 3 51 --- --- --- --- CTNNAL1 8727 broad.mit.edu 37 9 111734982 111734982 + Silent SNP G G C TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr9:111734982G>C ENST00000374595.4 - 9 1399 c.1320C>G c.(1318-1320)ctC>ctG p.L440L CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325551.4_Silent_p.L440L|CTNNAL1_ENST00000325580.6_Intron Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 440 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) TCTGTTCAGAGAGTTTACAGG 0.338 3 64 --- --- --- --- GSTO1 9446 broad.mit.edu 37 10 106014945 106014945 + Missense_Mutation SNP C C G TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr10:106014945C>G ENST00000369713.5 + 2 253 c.59C>G c.(58-60)cCg>cGg p.P20R GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Missense_Mutation_p.P20R|GSTO1_ENST00000539281.1_5'UTR NM_004832.2 NP_004823.1 P78417 GSTO1_HUMAN glutathione S-transferase omega 1 20 xenobiotic metabolic process cytosol glutathione transferase activity|monodehydroascorbate reductase (NADH) activity large_intestine(1)|lung(1)|stomach(1) 3 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147) Glutathione(DB00143) GGGCCGGTCCCGGAGGGCTCG 0.687 5 31 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39438593 39438593 + Silent SNP T T G TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr13:39438593T>G ENST00000280481.7 + 16 8049 c.7833T>G c.(7831-7833)ccT>ccG p.P2611P NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2611 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGACATATCCTTACCAGTACA 0.438 19 78 --- --- --- --- PCNX 22990 broad.mit.edu 37 14 71540394 71540394 + Missense_Mutation SNP T T C TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr14:71540394T>C ENST00000304743.2 + 27 5431 c.4985T>C c.(4984-4986)cTa>cCa p.L1662P PCNX_ENST00000238570.5_Missense_Mutation_p.L1590P|PCNX_ENST00000439984.3_Missense_Mutation_p.L1551P NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1662 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CAGCGATGGCTAGCTTGGGAA 0.418 22 84 --- --- --- --- DCAF4 26094 broad.mit.edu 37 14 73418524 73418524 + Silent SNP C C T TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr14:73418524C>T ENST00000553457.1 + 8 737 c.447C>T c.(445-447)ctC>ctT p.L149L DCAF4_ENST00000509153.1_Silent_p.L188L|DCAF4_ENST00000555042.1_Silent_p.L249L|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000358377.2_Silent_p.L249L|DCAF4_ENST00000394234.2_Silent_p.L149L Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 249 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 TCATGGGACTCGCAGAGACTC 0.517 6 118 --- --- --- --- RFWD3 55159 broad.mit.edu 37 16 74670338 74670338 + Silent SNP T T C TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr16:74670338T>C ENST00000361070.4 - 8 1429 c.1332A>G c.(1330-1332)gtA>gtG p.V444V RFWD3_ENST00000571750.1_Silent_p.V444V NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 444 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 CTGCCTGAGATACTGTGAAGG 0.547 7 43 --- --- --- --- FAM209A 200232 broad.mit.edu 37 20 55099933 55099933 + Silent SNP T T G TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr20:55099933T>G ENST00000371328.3 + 1 392 c.69T>G c.(67-69)tcT>tcG p.S23S FAM209A_ENST00000481560.1_Intron|GCNT7_ENST00000243913.4_Intron NM_001012971.3 NP_001012989.2 family with sequence similarity 209, member A TTATGTTCTCTTCTCTGAGAC 0.537 15 63 --- --- --- --- SUN2 25777 broad.mit.edu 37 22 39147338 39147338 + Missense_Mutation SNP G G C TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr22:39147338G>C ENST00000405510.1 - 4 521 c.163C>G c.(163-165)Cca>Gca p.P55A SUN2_ENST00000216064.4_Missense_Mutation_p.P55A|SUN2_ENST00000411587.2_Missense_Mutation_p.P90A|SUN2_ENST00000405018.1_Missense_Mutation_p.P55A|SUN2_ENST00000406622.1_Missense_Mutation_p.P55A NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 55 LMNA-binding (By similarity).|Ser-rich. centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 TGTGGCGCTGGGGACAGGCGC 0.617 12 34 --- --- --- --- WDR48 57599 broad.mit.edu 37 3 39104561 39104561 + Frame_Shift_Del DEL T T - TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d562f3c-4786-477f-9073-26c5f8413d52 c93901da-ca45-4879-a901-09753461f051 g.chr3:39104561delT ENST00000302313.5 + 2 97 c.69delT c.(67-69)gatfs p.D23fs WDR48_ENST00000544962.1_Intron|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_5'UTR NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 23 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TTATTCGAGATGAAGTGGAGA 0.388 15 73 --- --- --- ---