Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut DIDO1 11083 broad.mit.edu 37 20 61542656 61542656 + Silent SNP G G C TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr20:61542656G>C ENST00000266070.4 - 3 634 c.309C>G c.(307-309)ccC>ccG p.P103P DIDO1_ENST00000266071.5_Silent_p.P103P|DIDO1_ENST00000370371.4_Silent_p.P103P|DIDO1_ENST00000370368.1_Silent_p.P103P|DIDO1_ENST00000395340.1_Silent_p.P103P|DIDO1_ENST00000370366.1_Silent_p.P103P|DIDO1_ENST00000395335.2_Silent_p.P103P|DIDO1_ENST00000354665.4_Silent_p.P103P|DIDO1_ENST00000395343.1_Silent_p.P103P NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 103 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGTCTGTGGCGGGGCAGGACG 0.662000 15 19 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133796909 133796909 + Missense_Mutation SNP T T A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr11:133796909T>A ENST00000321016.8 - 13 1939 c.1709A>T c.(1708-1710)gAc>gTc p.D570V IGSF9B_ENST00000533871.2_Missense_Mutation_p.D570V Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 570 Fibronectin type-III 1. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTCCAGGGTGTCCACCAGCAG 0.602000 8 5 0 0 1 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52865661 52865661 + RNA SNP C C A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr13:52865661C>A ENST00000451298.1 - 0 31 RP11-64P12.8_ENST00000606031.1_RNA AAGGATGACACAATTGAATGA 0.289000 4 33 0.00909568 0.00938909 1 1 0 SETDB2 83852 broad.mit.edu 37 13 50055170 50055170 + Silent SNP G G A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr13:50055170G>A ENST00000354234.4 + 8 1980 c.1074G>A c.(1072-1074)caG>caA p.Q358Q SETDB2_ENST00000317257.8_Silent_p.Q370Q|SETDB2_ENST00000258672.5_Silent_p.Q358Q NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 370 Pre-SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) TGAGGTTACAGGTGTTCAAAA 0.398000 12 95 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16863161 16863161 + Missense_Mutation SNP C C A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr11:16863161C>A ENST00000355661.3 - 9 815 c.805G>T c.(805-807)Gac>Tac p.D269Y PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D269Y|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D269Y Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 269 PH. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GCGTTCATGTCCTCCTGGGTG 0.592000 6 28 0.0293803 0.0293803 1 1 0 PMM1 5372 broad.mit.edu 37 22 41980005 41980005 + Missense_Mutation SNP G G C TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr22:41980005G>C ENST00000216259.7 - 5 516 c.432C>G c.(430-432)agC>agG p.S144R PMM1_ENST00000466645.1_5'UTR NM_002676.2 NP_002667.2 Q92871 PMM1_HUMAN phosphomannomutase 1 144 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2) 11 CCAGGGTGCAGCTCCGGCCGA 0.567000 9 59 0 0 1 0 0 XPO7 23039 broad.mit.edu 37 8 21827087 21827087 + Splice_Site SNP C C A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr8:21827087C>A ENST00000434536.1 + 3 361 c.259_splice c.e3+1 p.R87_splice XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Splice_Site_p.R87_splice|XPO7_ENST00000433566.4_Splice_Site_p.R88_splice Q9UIA9 XPO7_HUMAN exportin 7 87 Importin N-terminal. 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) AATAGATATTCGTAAGTGGAG 0.398000 3 9 6.4e-05 7.31429e-05 1 1 0 TEX11 56159 broad.mit.edu 37 X 69825319 69825319 + Missense_Mutation SNP T T C TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chrX:69825319T>C ENST00000395889.2 - 25 2199 c.2044A>G c.(2044-2046)Aca>Gca p.T682A TEX11_ENST00000374320.2_Missense_Mutation_p.T357A|TEX11_ENST00000374333.2_Missense_Mutation_p.T667A|TEX11_ENST00000344304.3_Missense_Mutation_p.T682A NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 682 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) AGTAAACATGTTTTCCGTGCA 0.393000 10 21 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54848254 54848254 + Silent SNP G G A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr19:54848254G>A ENST00000291759.4 - 6 1169 c.1113C>T c.(1111-1113)taC>taT p.Y371Y AC008984.2_ENST00000507363.1_RNA NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 371 Ig-like C2-type 4. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TATGAGCTCCGTACATTGATC 0.587000 9 85 0 0 1 0 0 GFI1B 8328 broad.mit.edu 37 9 135866270 135866270 + Missense_Mutation SNP C C A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr9:135866270C>A ENST00000339463.3 + 11 1645 c.826C>A c.(826-828)Cac>Aac p.H276N GFI1B_ENST00000534944.1_Missense_Mutation_p.H230N|GFI1B_ENST00000450530.1_Missense_Mutation_p.H276N|GFI1B_ENST00000372123.1_Missense_Mutation_p.H230N|GFI1B_ENST00000372122.1_Missense_Mutation_p.H276N|GFI1B_ENST00000372124.1_Missense_Mutation_p.H230N Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 276 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) TGAGAAGCCGCACAAGTGCCA 0.652000 7 27 0.000157383 0.000173664 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 5 49 0 0 1 0 0 NEURL1 9148 broad.mit.edu 37 10 105331472 105331472 + Missense_Mutation SNP G G A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr10:105331472G>A ENST00000369780.4 + 3 951 c.542G>A c.(541-543)cGc>cAc p.R181H NEURL_ENST00000369777.2_Missense_Mutation_p.R164H|NEURL_ENST00000465048.1_3'UTR NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 181 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GTCTTCCACCGCATCAACGAC 0.637000 4 58 0 0 1 0 0 CYP21A1P 1590 broad.mit.edu 37 6 31975463 31975463 + RNA SNP T T C TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr6:31975463T>C ENST00000342991.6 + 0 1386 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GCAGCGACTGTAGGAGGAGCT 0.657000 3 7 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71570317 71570317 + Missense_Mutation SNP T T G TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr14:71570317T>G ENST00000304743.2 + 32 6472 c.6026T>G c.(6025-6027)cTt>cGt p.L2009R PCNX_ENST00000238570.5_Missense_Mutation_p.L1937R|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.L1898R NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 2009 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) CACGAACAGCTTAAAGACATT 0.453000 4 56 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280504 152280504 + Silent SNP G G A rs141571186 TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr1:152280504G>A ENST00000368799.1 - 3 6893 c.6858C>T c.(6856-6858)caC>caT p.H2286H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2286 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTGTCTTCGTGATGGGACC 0.557000 Ichthyosis 7 322 0 0 1 0 0 STAC3 246329 broad.mit.edu 37 12 57642948 57642948 + Silent SNP T T C TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr12:57642948T>C ENST00000332782.2 - 3 411 c.210A>G c.(208-210)gaA>gaG p.E70E STAC3_ENST00000554578.1_Silent_p.E31E|STAC3_ENST00000546246.2_Intron NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 70 Poly-Glu. intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 cctcctcttcttcctcttcct 0.542000 3 40 0 0 1 0 0 PMM1 5372 broad.mit.edu 37 22 41980004 41980004 + Missense_Mutation SNP A A T TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr22:41980004A>T ENST00000216259.7 - 5 517 c.433T>A c.(433-435)Tgc>Agc p.C145S PMM1_ENST00000466645.1_5'UTR NM_002676.2 NP_002667.2 Q92871 PMM1_HUMAN phosphomannomutase 1 145 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2) 11 TCCAGGGTGCAGCTCCGGCCG 0.567000 9 59 0 0 1 0 0 RPL32P3 132241 broad.mit.edu 37 3 129116292 129116292 + RNA SNP A A C TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr3:129116292A>C ENST00000514355.1 - 0 412 lung(1) 1 AGCAAATCCCACCCTGCCAGT 0.512000 6 28 0 0 1 0 0 ZNF8 7554 broad.mit.edu 37 19 58797161 58797161 + Missense_Mutation SNP C C A TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr19:58797161C>A ENST00000196548.5 + 2 276 c.145C>A c.(145-147)Ctc>Atc p.L49I CTD-3138B18.4_ENST00000600029.1_3'UTR|AC010642.1_ENST00000591325.1_3'UTR NM_021089.2 NP_066575.2 P17098 ZNF8_HUMAN zinc finger protein 8 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) CCAGAGGATCCTCTACCGTGA 0.537000 4 78 0.00909568 0.00938909 1 1 0 NFATC1 4772 broad.mit.edu 37 18 77170440 77170440 + Silent SNP C C T TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr18:77170440C>T ENST00000253506.5 + 2 534 c.165C>T c.(163-165)gcC>gcT p.A55A NFATC1_ENST00000586434.1_Silent_p.A42A|NFATC1_ENST00000329101.4_Silent_p.A42A|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Silent_p.A55A|NFATC1_ENST00000427363.2_Silent_p.A55A|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.A55A|NFATC1_ENST00000318065.5_Silent_p.A42A|NFATC1_ENST00000592223.1_Silent_p.A42A|NFATC1_ENST00000591814.1_Silent_p.A55A NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 55 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) TCAGCCCCGCCCTGCCGCTCC 0.632000 5 80 0 0 1 0 0 HLA-DRB6 3128 broad.mit.edu 37 6 32522379 32522380 + RNA INS - - C rs112115106 TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr6:32522379_32522380insC ENST00000411500.1 - 0 740 NR_001298.1 TGAAAATAGGATTGGGAGAGTA 0.475 5 11 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 3 5 --- --- --- --- UBE2Q2P1 388165 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 3 2 --- --- --- --- NKD1 85407 broad.mit.edu 37 16 50667639 50667641 + In_Frame_Del DEL CAC CAC - TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr16:50667639_50667641delCAC ENST00000268459.3 + 10 1584_1586 c.1360_1362delCAC c.(1360-1362)del p.H458del NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 458 His-rich. Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GAGACATGAGcaccaccaccacc 0.655 2 4 --- --- --- --- CCDC155 147872 broad.mit.edu 37 19 49920666 49920668 + In_Frame_Del DEL CTG CTG - TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr19:49920666_49920668delCTG ENST00000447857.3 + 20 1793_1795 c.1588_1590delCTG c.(1588-1590)del p.L536del NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 536 Poly-Leu. integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 TGTCCTGGGCctgctgctgctgc 0.650 3 3 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15343746 15343749 + RNA DEL TCTG TCTG - TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chr21:15343746_15343749delTCTG ENST00000344693.5 - 0 736 NR_027270.1 CTCTGTGCTTTCTGATGTGCTGCT 0.407 4 2 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578866 154578866 + RNA DEL T T - TCGA-TT-A6YK-01A-11D-A35I-08 TCGA-TT-A6YK-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0811ea07-4dc7-4aff-9a19-7bd397ba2f48 591b0920-7e11-4561-aa5f-62d0a4f4d723 g.chrX:154578866delT ENST00000412436.1 - 0 98 RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA TTTCTCTCTGTTTTTTTTTTT 0.418 5 10 --- --- --- ---