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 PRAMEF11 440560 broad.mit.edu 37 1 12887308 12887308 + Silent SNP C C T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr1:12887308C>T ENST00000535591.1 - 3 744 c.549G>A c.(547-549)caG>caA p.Q183Q NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 183 p.Q183H(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATGGGGTAAACTGTGTCAGGA 0.498 9 324 --- --- --- --- NEK4 6787 broad.mit.edu 37 3 52786023 52786023 + Missense_Mutation SNP G G C TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr3:52786023G>C ENST00000233027.5 - 7 1495 c.1293C>G c.(1291-1293)gaC>gaG p.D431E NEK4_ENST00000535191.1_Missense_Mutation_p.D342E|NEK4_ENST00000383721.4_Missense_Mutation_p.D431E NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 431 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) CAGTGACAATGTCAGAGGACC 0.468 63 149 --- --- --- --- IFT122 55764 broad.mit.edu 37 3 129182397 129182397 + Missense_Mutation SNP T T C TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr3:129182397T>C ENST00000504021.1 + 4 297 c.203T>C c.(202-204)aTt>aCt p.I68T IFT122_ENST00000347300.2_Intron|IFT122_ENST00000296266.3_Intron|IFT122_ENST00000348417.2_Intron|IFT122_ENST00000431818.2_Intron|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000440957.2_Intron Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 99 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 TTATTGTGCATTGAAGGGTTG 0.388 22 49 --- --- --- --- DZIP1L 199221 broad.mit.edu 37 3 137802957 137802957 + Missense_Mutation SNP T T A TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr3:137802957T>A ENST00000327532.2 - 8 1563 c.1201A>T c.(1201-1203)Atg>Ttg p.M401L DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Missense_Mutation_p.M401L NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 401 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 AGACCTACCATCTCCTCCTGG 0.567 20 65 --- --- --- --- SMARCAD1 56916 broad.mit.edu 37 4 95204449 95204449 + Missense_Mutation SNP G G T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr4:95204449G>T ENST00000354268.4 + 22 2977 c.2904G>T c.(2902-2904)caG>caT p.Q968H SMARCAD1_ENST00000509418.1_Missense_Mutation_p.Q538H|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.Q970H Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 968 Helicase C-terminal. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) GAGTAGGCCAGACTAAGTAAG 0.333 3 36 --- --- --- --- SUSD1 64420 broad.mit.edu 37 9 114820961 114820961 + Missense_Mutation SNP T T C TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr9:114820961T>C ENST00000374270.3 - 14 2028 c.1856A>G c.(1855-1857)tAt>tGt p.Y619C SUSD1_ENST00000374264.2_Missense_Mutation_p.Y619C|SUSD1_ENST00000374263.3_Missense_Mutation_p.Y619C NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 619 integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TAACACCTGATATGAACTGGA 0.453 8 50 --- --- --- --- MIR100 406892 broad.mit.edu 37 11 122023002 122023002 + RNA SNP G G A TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr11:122023002G>A ENST00000385259.1 - 0 14 NR_029515.1 GGATCTACGGGTTTGTGGCAA 0.418 12 49 --- --- --- --- ETV6 2120 broad.mit.edu 37 12 12038866 12038866 + Missense_Mutation SNP A A G TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr12:12038866A>G ENST00000396373.4 + 7 1433 c.1159A>G c.(1159-1161)Aca>Gca p.T387A NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 387 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) ACAGAACAGAACAAACATGAC 0.418 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 7 74 --- --- --- --- TMEM5 10329 broad.mit.edu 37 12 64174844 64174844 + Missense_Mutation SNP A A G TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr12:64174844A>G ENST00000261234.6 + 2 373 c.215A>G c.(214-216)gAt>gGt p.D72G RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR NM_014254.1 NP_055069.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 72 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TGGGAAGGAGATGAAAAAAAT 0.348 19 51 --- --- --- --- VSIG10 54621 broad.mit.edu 37 12 118533490 118533490 + Missense_Mutation SNP T T C TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr12:118533490T>C ENST00000359236.5 - 2 485 c.209A>G c.(208-210)aAc>aGc p.N70S VSIG10_ENST00000536905.1_5'UTR NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 70 Ig-like C2-type 1. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 GAGGCTAGAGTTGGACGAGAG 0.572 10 24 --- --- --- --- PACS2 23241 broad.mit.edu 37 14 105818770 105818770 + Missense_Mutation SNP T T C TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr14:105818770T>C ENST00000447393.1 + 3 438 c.263T>C c.(262-264)gTg>gCg p.V88A PACS2_ENST00000325438.8_Missense_Mutation_p.V88A|PACS2_ENST00000458164.2_Missense_Mutation_p.V88A|PACS2_ENST00000430725.2_Missense_Mutation_p.V21A|PACS2_ENST00000547217.1_Intron NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 88 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) AGTGGACAAGTGGAGACAGAC 0.567 OREG0022968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 93 --- --- --- --- ADAM10 102 broad.mit.edu 37 15 58925526 58925526 + Missense_Mutation SNP G G A TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr15:58925526G>A ENST00000260408.3 - 9 1488 c.1045C>T c.(1045-1047)Ctc>Ttc p.L349F ADAM10_ENST00000402627.1_Missense_Mutation_p.L48F|ADAM10_ENST00000396140.2_Missense_Mutation_p.L48F|ADAM10_ENST00000561288.1_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 349 Peptidase M12B. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TCTGAATAGAGTTTACTTTTT 0.368 17 46 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577102 7577102 + Missense_Mutation SNP C C T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr17:7577102C>T ENST00000420246.2 - 8 968 c.836G>A c.(835-837)gGg>gAg p.G279E TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000445888.2_Missense_Mutation_p.G279E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 279 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGGTCTCTCCCAGGACAGGC 0.547 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 7 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9049442 9049442 + Missense_Mutation SNP G G A TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr19:9049442G>A ENST00000397910.4 - 5 32392 c.32189C>T c.(32188-32190)tCa>tTa p.S10730L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10732 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCACCAGGTGAGACAGTCAT 0.453 58 157 --- --- --- --- CLCN5 1184 broad.mit.edu 37 X 49689925 49689925 + Splice_Site SNP G G T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chrX:49689925G>T ENST00000376088.3 + 3 657 c.e3+1 CLCN5_ENST00000376091.3_Splice_Site|CLCN5_ENST00000482218.2_Splice_Site NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) ATGTGGCAGGGTAAGAAATTA 0.507 19 25 --- --- --- --- SPANXN1 494118 broad.mit.edu 37 X 144337277 144337277 + Silent SNP T T C TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chrX:144337277T>C ENST00000370493.3 + 2 921 c.162T>C c.(160-162)ttT>ttC p.F54F NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 54 endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TATTAGCGTTTTGCTACAGGA 0.433 3 56 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41682030 41682030 + Frame_Shift_Del DEL A A - TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr4:41682030delA ENST00000313860.7 + 19 2429 c.2375delA c.(2374-2376)tacfs p.Y792fs LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.Y792fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.Y637fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.Y715fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.Y645fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.Y804fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.Y791fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.Y1176fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.Y632fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 792 Glu-rich. actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 CAGGAGAGATACCAGAAGGAG 0.448 2 4 --- --- --- --- CREB3L2 64764 broad.mit.edu 37 7 137569752 137569752 + Frame_Shift_Del DEL G G - TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr7:137569752delG ENST00000330387.6 - 10 1610 c.1259delC c.(1258-1260)acafs p.T420fs CREB3L2_ENST00000456390.1_Frame_Shift_Del_p.T420fs NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 420 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 CACGGAGGCTGTGTAGGGCTC 0.532 T FUS fibromyxoid sarcoma 16 71 --- --- --- --- ZNF408 79797 broad.mit.edu 37 11 46727386 46727386 + Frame_Shift_Del DEL G G - TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e aca8551c-6477-4cd2-a7d0-72b093c56a69 g.chr11:46727386delG ENST00000311764.2 + 5 2366 c.2136delG c.(2134-2136)gagfs p.E712fs NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCTGGGCAGAGGTGGTGGAGG 0.572 2 4 --- --- --- ---