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 ARID5B 84159 broad.mit.edu 37 10 63851924 63851924 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr10:63851924C>T ENST00000279873.7 + 10 3112 c.2702C>T c.(2701-2703)aCg>aTg p.T901M ARID5B_ENST00000309334.5_Missense_Mutation_p.T658M NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 901 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GAAGCCCCTACGGATGATCAG 0.552000 28 46 0 0 0.030593 0 0 TMOD4 29765 broad.mit.edu 37 1 151143016 151143016 + Missense_Mutation SNP T T C rs143662204 byFrequency TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr1:151143016T>C ENST00000416280.2 - 7 886 c.787A>G c.(787-789)Atg>Gtg p.M263V Q9NZQ9 TMOD4_HUMAN tropomodulin 4 (muscle) 332 muscle contraction cytoplasm|cytoskeleton actin binding|tropomyosin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTTCGGGTCATGGCCTGGGCT 0.542000 6 123 0 0 0.021553 0 0 IQSEC3 440073 broad.mit.edu 37 12 247484 247484 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr12:247484G>A ENST00000538872.1 + 4 1073 c.955G>A c.(955-957)Gct>Act p.A319T IQSEC3_ENST00000326261.4_Missense_Mutation_p.A319T|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A16T|RP11-598F7.4_ENST00000505893.2_RNA Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 319 IQ. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CCGGCGCGCCGCTTGCACCAT 0.592000 8 128 0 0 0.047766 0 0 ZNF835 90485 broad.mit.edu 37 19 57175924 57175924 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr19:57175924C>T ENST00000537055.2 - 2 874 c.643G>A c.(643-645)Gtg>Atg p.V215M NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CCCGTGTGCACGCGCCGGTGC 0.716000 5 9 0 0 0.014758 0 0 CDK15 65061 broad.mit.edu 37 2 202700438 202700438 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr2:202700438C>T ENST00000450471.2 + 8 889 c.803C>T c.(802-804)cCt>cTt p.P268L CDK15_ENST00000260967.2_Missense_Mutation_p.P217L|CDK15_ENST00000434439.1_Missense_Mutation_p.P268L|CDK15_ENST00000410091.3_Missense_Mutation_p.P217L|CDK15_ENST00000374598.4_Missense_Mutation_p.P268L|CDK15_ENST00000488419.1_3'UTR NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 268 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) TACCGGCCCCCTGATGCTTTG 0.522000 15 29 0 0 0.033300 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250616 140250616 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr5:140250616G>A ENST00000398640.2 + 1 1928 c.1928G>A c.(1927-1929)cGc>cAc p.R643H PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACTCGCCGCGCCACCGACTT 0.687000 20 41 0 0 0.055883 0 0 MAP2 4133 broad.mit.edu 37 2 210594941 210594941 + Silent SNP T T A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr2:210594941T>A ENST00000360351.4 + 15 5810 c.5304T>A c.(5302-5304)gcT>gcA p.A1768A MAP2_ENST00000392194.1_Silent_p.A412A|MAP2_ENST00000199940.6_Silent_p.A500A|MAP2_ENST00000447185.1_Silent_p.A1764A|MAP2_ENST00000361559.4_Silent_p.A412A NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1768 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GAGAGCATGCTAAAGCCCGTG 0.512000 9 17 0 0 0.058154 0 0 ARID3B 10620 broad.mit.edu 37 15 74883672 74883672 + Silent SNP T T C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr15:74883672T>C ENST00000346246.5 + 6 1293 c.1062T>C c.(1060-1062)ctT>ctC p.L354L NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 354 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L354L(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCCCTGCCCTTCTCTCCCCAC 0.647000 3 56 0 0 0.038147 0 0 COL11A1 1301 broad.mit.edu 37 1 103405905 103405905 + Missense_Mutation SNP G G C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr1:103405905G>C ENST00000358392.2 - 43 3715 c.3398C>G c.(3397-3399)tCc>tGc p.S1133C COL11A1_ENST00000353414.4_Missense_Mutation_p.S1082C|COL11A1_ENST00000370096.3_Missense_Mutation_p.S1121C|COL11A1_ENST00000512756.1_Missense_Mutation_p.S1005C NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1121 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTCCCCAGGGGAGCCGGCAGG 0.473000 17 33 0 0 0.049695 0 0 OR5L1 219437 broad.mit.edu 37 11 55578997 55578997 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr11:55578997G>A ENST00000333973.2 + 1 144 c.55G>A c.(55-57)Gat>Aat p.D19N NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGGACTATCAGATGTCCCTGA 0.443000 14 113 0 0 0.048971 0 0 TONSL 4796 broad.mit.edu 37 8 145655883 145655883 + Silent SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr8:145655883G>A ENST00000409379.3 - 25 3876 c.3847C>T c.(3847-3849)Ctg>Ttg p.L1283L NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 1283 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 TTGGCAGACAGATCCAGTGAG 0.557000 6 12 0 0 0.029380 0 0 ENTPD1 953 broad.mit.edu 37 10 97607265 97607265 + Silent SNP C C T rs149509898 by1000genomes TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr10:97607265C>T ENST00000371203.5 + 6 1049 c.462C>T c.(460-462)aaC>aaT p.N154N ENTPD1_ENST00000371205.4_Silent_p.N292N|ENTPD1_ENST00000371207.3_Silent_p.N304N|ENTPD1_ENST00000539125.1_Silent_p.N154N|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Silent_p.N184N|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Silent_p.N299N NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 292 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) AGGTAGTGAACGTAAGTGACC 0.418000 26 46 0 0 0.091800 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20506898 20506898 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr20:20506898C>T ENST00000202677.6 - 28 3833 c.3691G>A c.(3691-3693)Gaa>Aaa p.E1231K NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1231 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 AGACTTACTTCTGCCATTTTC 0.353000 7 11 0 0 0.029380 0 0 GPAA1 8733 broad.mit.edu 37 8 145139221 145139221 + Silent SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr8:145139221G>A ENST00000355091.4 + 6 922 c.801G>A c.(799-801)acG>acA p.T267T GPAA1_ENST00000361036.6_Silent_p.T207T|GPAA1_ENST00000527144.1_3'UTR NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 267 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGTTGTGCACGCTTCAGGGCA 0.627000 17 48 0 0 0.062417 0 0 ALK 238 broad.mit.edu 37 2 29455179 29455179 + Missense_Mutation SNP C C T rs148001139 TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr2:29455179C>T ENST00000389048.3 - 15 3529 c.2623G>A c.(2623-2625)Gga>Aga p.G875R ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 875 Gly-rich. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCTGCGGCTCCGGAATTGCCG 0.617000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 6 91 0 0 0.029380 0 0 SCN1A 6323 broad.mit.edu 37 2 166848284 166848284 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr2:166848284G>A ENST00000423058.2 - 26 5518 c.5501C>T c.(5500-5502)gCg>gTg p.A1834V AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1823V|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1806V|SCN1A_ENST00000303395.4_Missense_Mutation_p.A1834V|AC010127.3_ENST00000597623.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1834 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CGGTTCAAGCGCAGCTGCAAA 0.458000 43 64 0 0 0.048971 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501079 90501079 + Silent SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr9:90501079C>T ENST00000325643.5 + 4 1743 c.1677C>T c.(1675-1677)gtC>gtT p.V559V NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CACAGTCTGTCATCCCCACTG 0.547000 11 139 0 0 0.105934 0 0 CDH11 1009 broad.mit.edu 37 16 65032649 65032649 + Silent SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr16:65032649G>A ENST00000394156.3 - 4 792 c.339C>T c.(337-339)acC>acT p.T113T CDH11_ENST00000268603.4_Silent_p.T113T|CDH11_ENST00000566827.1_5'UTR P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 113 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCAACGTCTTGGTGGCATGAA 0.493000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 10 6 0 0 0.058154 0 0 SLIT2 9353 broad.mit.edu 37 4 20597445 20597445 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr4:20597445C>T ENST00000504154.1 + 31 3560 c.3308C>T c.(3307-3309)cCc>cTc p.P1103L SLIT2_ENST00000503837.1_Missense_Mutation_p.P1099L|SLIT2_ENST00000503823.1_Missense_Mutation_p.P1095L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1116L NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1103 EGF-like 5; calcium-binding (Potential). apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGCATATGCCCCGAAGGTTAC 0.438000 19 36 0 0 0.038395 0 0 WDR5 11091 broad.mit.edu 37 9 137005026 137005026 + Missense_Mutation SNP G G C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr9:137005026G>C ENST00000358625.3 + 2 198 c.27G>C c.(25-27)gaG>gaC p.E9D WDR5_ENST00000425041.1_Missense_Mutation_p.E9D NM_017588.2 NP_060058.1 P61964 WDR5_HUMAN WD repeat domain 5 9 histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) AGAAGCCCGAGACCGAGGCCG 0.657000 11 22 0 0 0.069234 0 0 HERC2 8924 broad.mit.edu 37 15 28375741 28375741 + Splice_Site SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr15:28375741C>T ENST00000261609.7 - 82 12679 c.e82-1 NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GAGAATCAATCTAGAGGGGGA 0.413000 43 72 0 0 0.098360 0 0 COL4A4 1286 broad.mit.edu 37 2 228009238 228009238 + Silent SNP T T A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr2:228009238T>A ENST00000396625.3 - 3 315 c.108A>T c.(106-108)gtA>gtT p.V36V COL4A4_ENST00000329662.7_Silent_p.V36V NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 36 axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTACCCCATATACATATTGTA 0.308000 19 45 0 0 0.043863 0 0 OLFML2B 25903 broad.mit.edu 37 1 161954641 161954641 + Missense_Mutation SNP T T C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr1:161954641T>C ENST00000294794.3 - 7 2027 c.1604A>G c.(1603-1605)tAc>tGc p.Y535C OLFML2B_ENST00000367940.2_Missense_Mutation_p.Y536C|OLFML2B_ENST00000367938.1_Missense_Mutation_p.Y18C NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 535 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGTGTTGCCGTAGTAATAGTT 0.542000 42 79 0 0 0.104719 0 0 SLX4 84464 broad.mit.edu 37 16 3645643 3645643 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr16:3645643G>A ENST00000294008.3 - 9 2616 c.1976C>T c.(1975-1977)tCg>tTg p.S659L NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 659 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CTTGTCCTGCGATGGCACCAC 0.632000 Direct reversal of damage 9 21 0 0 0.058154 0 0 NALCN 259232 broad.mit.edu 37 13 101997763 101997763 + Missense_Mutation SNP G G T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr13:101997763G>T ENST00000251127.6 - 7 734 c.653C>A c.(652-654)aCc>aAc p.T218N NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.T218N NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 218 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACTATTCCAGGTTACATTCCT 0.373000 20 34 5.03518e-11 5.6052e-11 0.043863 1 0 POM121L9P 29774 broad.mit.edu 37 22 24659621 24659621 + RNA SNP T T C rs116751564 by1000genomes TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr22:24659621T>C ENST00000414583.2 + 0 3146 NR_003714.1 CCTGGATGTCTGCGGCCACAC 0.637000 3 16 0 0 0.014758 0 0 FBLN5 10516 broad.mit.edu 37 14 92336584 92336584 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr14:92336584G>A ENST00000267620.10 - 12 1623 c.1454C>T c.(1453-1455)tCg>tTg p.S485L FBLN5_ENST00000556154.1_Missense_Mutation_p.S449L|FBLN5_ENST00000556961.1_5'UTR|FBLN5_ENST00000342058.4_Missense_Mutation_p.S444L Q9UBX5 FBLN5_HUMAN fibulin 5 444 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) TGGGTACTGCGACACATATAT 0.542000 26 51 0 0 0.099896 0 0 MYH2 4620 broad.mit.edu 37 17 10448712 10448712 + Silent SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr17:10448712C>T ENST00000245503.5 - 5 840 c.456G>A c.(454-456)ccG>ccA p.P152P MYH2_ENST00000397183.2_Silent_p.P152P|MYH2_ENST00000532183.1_Silent_p.P152P|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 152 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AGATGTGGGGCGGGGCCTCCT 0.542000 10 96 0 0 0.093190 0 0 FAT2 2196 broad.mit.edu 37 5 150922619 150922619 + Missense_Mutation SNP T T C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr5:150922619T>C ENST00000261800.5 - 9 8081 c.8069A>G c.(8068-8070)aAa>aGa p.K2690R NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2690 Cadherin 23. 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) TTCAGAAAATTTCGGTAAGGA 0.463000 26 40 0 0 0.037714 0 0 BIK 638 broad.mit.edu 37 22 43524565 43524565 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr22:43524565G>A ENST00000216115.2 + 4 387 c.324G>A c.(322-324)atG>atA p.M108I NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 108 apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) GAAGTTTCATGGACGGTTTCA 0.512000 27 67 0 0 0.099896 0 0 GCOM1 145781 broad.mit.edu 37 15 57913836 57913836 + Nonsense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr15:57913836C>T ENST00000574161.1 + 4 468 c.349C>T c.(349-351)Cga>Tga p.R117* GCOM1_ENST00000380561.2_Intron|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.R117*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R117*|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R117*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R117*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R117*|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R117*|GCOM1_ENST00000380560.2_Intron NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 117 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 GGTGAGAAAGCGAATGTATGG 0.403000 23 53 0 0 0.076483 0 0 CHD1 1105 broad.mit.edu 37 5 98233988 98233988 + Nonsense_Mutation SNP G G T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr5:98233988G>T ENST00000284049.3 - 9 1486 c.1337C>A c.(1336-1338)tCa>tAa p.S446* NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 446 Chromo 2. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AGTGGTTTTTGATTGGTTCCT 0.328000 9 31 0.000442599 0.000474788 0.058154 1 0 QSER1 79832 broad.mit.edu 37 11 32955375 32955375 + Missense_Mutation SNP T T A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr11:32955375T>A ENST00000399302.2 + 4 2519 c.2184T>A c.(2182-2184)gaT>gaA p.D728E QSER1_ENST00000527788.1_Missense_Mutation_p.D489E NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 728 Gln-rich. breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) TCCTTTTAGATTCTGCCTGTG 0.408000 28 49 0 0 0.108266 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659623 24659623 + RNA SNP C C T rs114457979 by1000genomes TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr22:24659623C>T ENST00000414583.2 + 0 3148 NR_003714.1 TGGATGTCTGCGGCCACACCG 0.637000 3 14 0 0 0.014758 0 0 ELP4 26610 broad.mit.edu 37 11 31616337 31616337 + Silent SNP T T A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr11:31616337T>A ENST00000395934.2 + 4 409 c.402T>A c.(400-402)ctT>ctA p.L134L ELP4_ENST00000379163.5_Silent_p.L134L|ELP4_ENST00000350638.5_Silent_p.L134L Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 134 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) CACCATTACTTGATGATAAAT 0.289000 11 26 0 0 0.093190 0 0 MST1L 11223 broad.mit.edu 37 1 17085189 17085189 + RNA SNP A A G TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr1:17085189A>G ENST00000455405.2 - 0 87 p.S428P(1) TCCAGGATTGATGGCGGCTGG 0.572000 5 20 0 0 0.014758 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456253 5456253 + Missense_Mutation SNP G G A rs113345491 TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr19:5456253G>A ENST00000222033.4 + 1 828 c.751G>A c.(751-753)Gtg>Atg p.V251M NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 251 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CTGTCACCCCGTGCTGACCGT 0.682000 25 19 0 0 0.099896 0 0 SLC14A1 6563 broad.mit.edu 37 18 43319570 43319570 + Missense_Mutation SNP A A G TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr18:43319570A>G ENST00000321925.4 + 8 1121 c.889A>G c.(889-891)Atg>Gtg p.M297V RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000586142.1_Missense_Mutation_p.M297V|SLC14A1_ENST00000402943.2_Missense_Mutation_p.M192V|SLC14A1_ENST00000436407.3_Missense_Mutation_p.M353V|SLC14A1_ENST00000415427.3_Missense_Mutation_p.M353V|SLC14A1_ENST00000502059.2_Missense_Mutation_p.M189V|SLC14A1_ENST00000589700.1_Silent_p.Q247Q|SLC14A1_ENST00000591541.1_Start_Codon_SNP_p.M1V|SLC14A1_ENST00000535474.1_Missense_Mutation_p.M165V|RP11-116O18.3_ENST00000589510.1_RNA NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 297 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 CTGCATTGCAATGGGAGGAAT 0.562000 26 44 0 0 0.030593 0 0 KCNMA1 3778 broad.mit.edu 37 10 78708933 78708933 + Silent SNP C C T rs143184179 by1000genomes TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr10:78708933C>T ENST00000286627.5 - 21 3454 c.2502G>A c.(2500-2502)acG>acA p.T834T KCNMA1_ENST00000406533.3_Silent_p.T896T|KCNMA1_ENST00000372443.1_Silent_p.T834T|KCNMA1_ENST00000404771.3_Silent_p.T892T|KCNMA1_ENST00000354353.5_Silent_p.T895T|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Silent_p.T834T|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404857.1_Silent_p.T875T|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.T892T|RP11-443A13.5_ENST00000600782.1_RNA NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 892 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AGTTATGAAGCGTCTCCCATT 0.458000 5 117 0 0 0.021553 0 0 SENP2 59343 broad.mit.edu 37 3 185316239 185316239 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr3:185316239C>T ENST00000296257.5 + 3 437 c.197C>T c.(196-198)gCt>gTt p.A66V SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.A56V|SENP2_ENST00000465201.1_3'UTR NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 66 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CTCTACAATGCTGCCAGCTTA 0.393000 11 36 0 0 0.093190 0 0 ABTB2 25841 broad.mit.edu 37 11 34176283 34176283 + Missense_Mutation SNP C C T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr11:34176283C>T ENST00000435224.2 - 15 3155 c.2731G>A c.(2731-2733)Gaa>Aaa p.E911K ABTB2_ENST00000298992.2_Missense_Mutation_p.E725K NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 725 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) TCCATGGATTCTGTTCCTCCG 0.592000 24 45 0 0 0.091800 0 0 CA4 762 broad.mit.edu 37 17 58233927 58233927 + Missense_Mutation SNP T T C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr17:58233927T>C ENST00000300900.4 + 3 218 c.119T>C c.(118-120)gTc>gCc p.V40A NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 40 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) TCAGTGCCAGTCAAGTGGGGT 0.587000 17 35 0 0 0.038395 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42133017 42133017 + Missense_Mutation SNP G G T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr15:42133017G>T ENST00000382448.4 + 9 967 c.958G>T c.(958-960)Gat>Tat p.D320Y PLA2G4B_ENST00000452633.1_Missense_Mutation_p.D89Y|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.D89Y|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.D320Y NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 89 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 GGTGACCGGAGATGACCCTGT 0.577000 29 41 3.73148e-12 4.23379e-12 0.034045 1 0 PGAM5 192111 broad.mit.edu 37 12 133294060 133294060 + Missense_Mutation SNP G G A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr12:133294060G>A ENST00000498926.2 + 3 464 c.406G>A c.(406-408)Gca>Aca p.A136T PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000543955.1_5'UTR|PGAM5_ENST00000454808.2_5'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.A136T NM_001170543.1|NM_001170544.1 NP_001164014.1|NP_001164015.1 Q96HS1 PGAM5_HUMAN phosphoglycerate mutase family member 5 136 integral to membrane|mitochondrial outer membrane phosphoprotein phosphatase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06) GCTCCGCCTGGCAAGCTTGGG 0.592000 3 31 0 0 0.004672 0 0 POLB 5423 broad.mit.edu 37 8 42196204 42196204 + Splice_Site SNP G G T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr8:42196204G>T ENST00000265421.4 + 1 231 c.e1+1 POLB_ENST00000530566.1_Intron|POLB_ENST00000538005.1_Splice_Site NM_002690.2 NP_002681.1 P06746 DPOLB_HUMAN polymerase (DNA directed), beta DNA-dependent DNA replication cytoplasm|nucleoplasm|spindle microtubule DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 16 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024) Cytarabine(DB00987) ATGCTCACAGGTTAGCACCGG 0.617000 DNA polymerases (catalytic subunits) 31 56 1.16021e-09 1.26763e-09 0.034045 1 0 NOX4 50507 broad.mit.edu 37 11 89088181 89088181 + Missense_Mutation SNP G G C TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr11:89088181G>C ENST00000535633.1 - 13 1404 c.1094C>G c.(1093-1095)tCt>tGt p.S365C NOX4_ENST00000343727.5_Missense_Mutation_p.S365C|NOX4_ENST00000528341.1_Missense_Mutation_p.S364C|NOX4_ENST00000531342.1_Missense_Mutation_p.S82C|NOX4_ENST00000534731.1_Missense_Mutation_p.S389C|NOX4_ENST00000542487.1_Missense_Mutation_p.S365C|NOX4_ENST00000532825.1_Missense_Mutation_p.S365C|NOX4_ENST00000527626.1_Missense_Mutation_p.S223C|NOX4_ENST00000375979.3_Missense_Mutation_p.S82C|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000263317.4_Missense_Mutation_p.S389C|NOX4_ENST00000527956.1_Missense_Mutation_p.S365C|NOX4_ENST00000424319.1_Missense_Mutation_p.S365C|NOX4_ENST00000413594.2_Missense_Mutation_p.S410C NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 389 FAD-binding FR-type.|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) GTCTTGACTAGATGGAGGCAG 0.363000 6 22 0 0 0.038147 0 0 ARID1A 8289 broad.mit.edu 37 1 27100182 27100184 + In_Frame_Del DEL GCA GCA - TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr1:27100182_27100184delGCA ENST00000324856.7 + 16 4349_4351 c.3978_3980delGCA c.(3976-3981)ccg>cc p.PQ1326del ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del|ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1326 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q1327*(1)|p.Q1334delQ(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCTACCCCCCgcagcagcagcag 0.591 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 7 134 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 7 60 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711145 6711147 + In_Frame_Del DEL TCC TCC - rs71584865 byFrequency TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr12:6711145_6711147delTCC ENST00000309577.6 - 4 580_582 c.417_419delGGA c.(415-420)gat>ga p.ED139del CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del|CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 139 Poly-Asp. E -> D (in dbSNP:rs1639122). chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATCATCATCAtcctcctcctcct 0.453 27 286 --- --- --- --- SMG1 23049 broad.mit.edu 37 16 18856797 18856807 + Frame_Shift_Del DEL GGAGTCTTCAG GGAGTCTTCAG - TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr16:18856797_18856807delGGAGTCTTCAG ENST00000446231.2 - 39 6575_6585 c.6163_6173delCTGAAGACTCC c.(6163-6174)afs p.LKTP2055fs SMG1_ENST00000389467.3_Frame_Shift_Del_p.LKTP2055fs Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2055 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.P2058Q(1)|p.P2054Q(1) NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 AGGGTTCAATGGAGTCTTCAGTTTTTCTAGG 0.455 14 40 --- --- --- --- KIAA0100 9703 broad.mit.edu 37 17 26971123 26971123 + Frame_Shift_Del DEL A A - TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr17:26971123delA ENST00000528896.2 - 2 225 c.151delT c.(151-153)ggfs p.W51fs KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 51 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) TTCTGGATCCAAAAAAAGCGG 0.478 OREG0024280 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 135 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-DQ-7591-01A-11D-2078-08 TCGA-DQ-7591-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4068a2fc-452d-4b2c-88d8-72d30097527b 91a5e873-7f52-493c-8b6c-95933c192325 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 8 100 --- --- --- ---