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 DNAH2 146754 broad.mit.edu 37 17 7662780 7662780 + Missense_Mutation SNP G G A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr17:7662780G>A ENST00000572933.1 + 16 3949 c.2489G>A c.(2488-2490)cGc>cAc p.R830H DNAH2_ENST00000389173.2_Missense_Mutation_p.R830H Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 830 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R830L(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CGGCTGGACCGCATGATGGAG 0.527000 4 171 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12384688 12384688 + Missense_Mutation SNP G G A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr19:12384688G>A ENST00000356109.5 - 5 644 c.526C>T c.(526-528)Cac>Tac p.H176Y ZNF44_ENST00000355684.5_Missense_Mutation_p.H128Y NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) CGGTGTTTGTGTCCAGTATCA 0.443000 4 161 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157078329 157078329 + Missense_Mutation SNP G G A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr5:157078329G>A ENST00000265007.6 - 1 1099 c.758C>T c.(757-759)cCg>cTg p.P253L SOX30_ENST00000311371.5_Missense_Mutation_p.P253L|SOX30_ENST00000519442.1_Intron NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 253 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGCTGGTGCGGCCCAAAGGC 0.647000 3 42 0 0 1 0 0 EIF3F 8665 broad.mit.edu 37 11 8014547 8014547 + Missense_Mutation SNP G G A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr11:8014547G>A ENST00000533626.1 + 6 1255 c.629G>A c.(628-630)cGc>cAc p.R210H EIF3F_ENST00000309828.4_Missense_Mutation_p.R210H|EIF3F_ENST00000449102.2_Missense_Mutation_p.R61H|EIF3F_ENST00000537635.1_Missense_Mutation_p.R225H O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 210 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAGAACGGCCGCATGAGCATC 0.562000 4 153 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28146602 28146602 + Silent SNP G G T TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr16:28146602G>T ENST00000304658.5 - 10 1878 c.1378C>A c.(1378-1380)Cga>Aga p.R460R XPO6_ENST00000565698.1_Silent_p.R446R NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 460 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 AACTGGATTCGATTCAACACC 0.478000 4 215 0.0215528 0.0240884 1 1 0 SNF8 11267 broad.mit.edu 37 17 47018424 47018424 + Splice_Site SNP T T A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr17:47018424T>A ENST00000502492.1 - 3 488 c.105_splice c.e3-1 p.M36_splice SNF8_ENST00000290330.3_Splice_Site_p.M36_splice Q96H20 SNF8_HUMAN SNF8, ESCRT-II complex subunit 36 cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytosol|late endosome membrane|transcription factor complex transcription factor binding breast(1)|endometrium(1)|lung(1) 3 TGCTTTGACATCTGTTGGATG 0.512000 4 222 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192234339 192234339 + Silent SNP C C A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr2:192234339C>A ENST00000392318.3 + 12 1351 c.1104C>A c.(1102-1104)atC>atA p.I368I MYO1B_ENST00000339514.4_Silent_p.I368I|MYO1B_ENST00000392316.1_Silent_p.I368I|MYO1B_ENST00000304164.4_Silent_p.I368I NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 368 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) TAAATCGAATCAATGAAAGCA 0.299000 4 106 0.248553 0.25527 1 1 0 EIF4G3 8672 broad.mit.edu 37 1 21268202 21268202 + Missense_Mutation SNP G G A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr1:21268202G>A ENST00000602326.1 - 12 1878 c.1295C>T c.(1294-1296)cCt>cTt p.P432L EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P432L|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P437L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P426L|EIF4G3_ENST00000374927.4_Missense_Mutation_p.P426L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.P426L|EIF4G3_ENST00000536266.1_Missense_Mutation_p.P30L NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 426 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TGGAGTGTgaggaggagaagc 0.532000 4 168 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 6 156 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117819770 117819770 + Nonstop_Mutation SNP A A G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chrX:117819770A>G ENST00000276204.6 + 53 6308 c.6234A>G c.(6232-6234)tgA>tgG p.*2078W DOCK11_ENST00000276202.7_Nonstop_Mutation_p.*2074W Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 0 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CTGAAGTGTGAGGAAATGCAG 0.393000 3 132 0 0 1 0 0 EFEMP2 30008 broad.mit.edu 37 11 65635868 65635868 + Missense_Mutation SNP G G A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr11:65635868G>A ENST00000307998.6 - 9 1102 c.872C>T c.(871-873)gCg>gTg p.A291V EFEMP2_ENST00000528176.1_Missense_Mutation_p.A291V NM_016938.4 NP_058634.4 O95967 FBLN4_HUMAN EGF containing fibulin-like extracellular matrix protein 2 291 EGF-like 6; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) GCACTGGTGCGCACCAGACTC 0.642000 3 93 0 0 1 0 0 ZNF362 149076 broad.mit.edu 37 1 33747210 33747210 + Missense_Mutation SNP T T C TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr1:33747210T>C ENST00000539719.1 + 6 876 c.706T>C c.(706-708)Ttt>Ctt p.F236L ZNF362_ENST00000373428.5_Missense_Mutation_p.F236L NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCCACTGACCTTTTTCACCAA 0.562000 3 148 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 5 161 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36985887 36985887 + Missense_Mutation SNP A A G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr5:36985887A>G ENST00000282516.8 + 10 3104 c.2605A>G c.(2605-2607)Aaa>Gaa p.K869E NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.K869E NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 869 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ACTAGAACGAAAACACAGGCA 0.398000 7 75 0 0 1 0 0 SPZ1 84654 broad.mit.edu 37 5 79616605 79616605 + Missense_Mutation SNP C C G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr5:79616605C>G ENST00000296739.4 + 1 816 c.571C>G c.(571-573)Cag>Gag p.Q191E NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) AAAGAAACAGCAGATGATAAT 0.353000 3 95 0 0 1 0 0 NADSYN1 55191 broad.mit.edu 37 11 71185490 71185490 + Missense_Mutation SNP G G A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr11:71185490G>A ENST00000319023.2 + 9 904 c.716G>A c.(715-717)cGc>cAc p.R239H NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 239 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GACGGGGACCGCCTGTACTAC 0.562000 8 122 0 0 1 0 0 FAM208A 23272 broad.mit.edu 37 3 56681126 56681126 + Missense_Mutation SNP C C A rs144722652 byFrequency TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr3:56681126C>A ENST00000431842.2 - 7 1375 c.451G>T c.(451-453)Gcc>Tcc p.A151S FAM208A_ENST00000355628.5_Missense_Mutation_p.A547S|FAM208A_ENST00000493960.2_Missense_Mutation_p.A547S NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 547 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 AAATTTATGGCGCTTATATTT 0.328000 3 65 1 1 1 1 0 ENTPD8 377841 broad.mit.edu 37 9 140332516 140332516 + Silent SNP C C A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr9:140332516C>A ENST00000371506.2 - 3 330 c.147G>T c.(145-147)gcG>gcT p.A49A ENTPD8_ENST00000472938.1_Silent_p.A49A|ENTPD8_ENST00000344119.2_Silent_p.A49A NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 49 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GGGAGGAGCCCGCATCAAACA 0.647000 3 40 0.115264 0.125144 1 1 0 BDP1 55814 broad.mit.edu 37 5 70840993 70840993 + Missense_Mutation SNP C C T TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr5:70840993C>T ENST00000358731.4 + 32 6954 c.6691C>T c.(6691-6693)Ccc>Tcc p.P2231S BDP1_ENST00000380675.2_Missense_Mutation_p.P367S NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2231 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TGTTGAAGAGCCCCAGATAAA 0.468000 22 78 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78201660 78201660 + Missense_Mutation SNP C C G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr17:78201660C>G ENST00000361193.3 + 7 917 c.637C>G c.(637-639)Ctg>Gtg p.L213V SLC26A11_ENST00000572725.1_Missense_Mutation_p.L213V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.L213V|SLC26A11_ENST00000411502.3_Missense_Mutation_p.L213V NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 213 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GCTGCTGCTGCTGGTGCTGAA 0.682000 3 220 0 0 1 0 0 G2E3 55632 broad.mit.edu 37 14 31061616 31061616 + Missense_Mutation SNP C C G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr14:31061616C>G ENST00000206595.6 + 5 479 c.325C>G c.(325-327)Cag>Gag p.Q109E G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.Q139E|G2E3_ENST00000438909.2_Missense_Mutation_p.Q63E NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 109 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 ATGTGGACTTCAGAGAGAATG 0.353000 3 76 0 0 1 0 0 C2orf42 54980 broad.mit.edu 37 2 70408980 70408980 + Silent SNP T T A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr2:70408980T>A ENST00000264434.2 - 3 517 c.138A>T c.(136-138)acA>acT p.T46T C2orf42_ENST00000420306.1_Silent_p.T46T|C2orf42_ENST00000470096.1_5'UTR NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 46 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 TGGTTCCACATGTCTTGTTCT 0.493000 4 145 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68692367 68692367 + Missense_Mutation SNP T T A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr5:68692367T>A ENST00000509734.1 + 15 2277 c.1599T>A c.(1597-1599)aaT>aaA p.N533K RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 533 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TTCTAATAAATAAAAAGGTAA 0.338000 Other conserved DNA damage response genes 6 12 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14861821 14861821 + Missense_Mutation SNP G G A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr3:14861821G>A ENST00000285046.5 + 1 1353 c.1243G>A c.(1243-1245)Gtc>Atc p.V415I FGD5_ENST00000543601.1_Missense_Mutation_p.V174I NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 415 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TGATGTGGTGGTCGTGCTGGA 0.682000 3 54 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161020597 161020597 + Silent SNP A A G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr6:161020597A>G ENST00000447678.1 - 21 3342 c.3222T>C c.(3220-3222)acT>acC p.T1074T LPA_ENST00000316300.5_Silent_p.T1074T NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3582 Kringle 10. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AAGCTTGGCAAGTTCTTCCTG 0.498000 5 552 0 0 1 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16734111 16734111 + Missense_Mutation SNP C C G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chrY:16734111C>G ENST00000297967.5 + 1 211 c.112C>G c.(112-114)Ctc>Gtc p.L38V NLGN4Y_ENST00000476359.1_3'UTR NM_001164238.1 NP_001157710.1 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked 38 brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity large_intestine(3)|lung(7)|prostate(2)|skin(2) 14 CAAGTTCACCCTCATTGACAG 0.463000 5 66 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367485.4_Silent_p.K617K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 5 161 0 0 1 0 0 NTSR1 4923 broad.mit.edu 37 20 61386045 61386045 + Silent SNP C C A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr20:61386045C>A ENST00000370501.3 + 2 1094 c.723C>A c.(721-723)acC>acA p.T241T NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 241 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) AGGTCAACACCTTCATGTCCT 0.612000 4 223 0.150653 0.159023 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 45 82 0 0 1 0 0 FAM122B 159090 broad.mit.edu 37 X 133919917 133919917 + Splice_Site SNP T T C TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chrX:133919917T>C ENST00000370790.1 - 7 1429 c.502_splice c.e7+1 p.K167_splice FAM122B_ENST00000486347.1_Splice_Site_p.K168_splice|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000343004.5_Splice_Site_p.K186_splice|FAM122B_ENST00000298090.6_Splice_Site_p.K186_splice NM_001166599.2|NM_145284.5 NP_001160071.1|NP_660327.2 Q7Z309 F122B_HUMAN family with sequence similarity 122B 167 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1) 6 Acute lymphoblastic leukemia(192;0.000127) gctacatACCTTTTCTTTTAA 0.388000 3 89 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133218793 133218793 + Missense_Mutation SNP C C G TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr12:133218793C>G ENST00000320574.5 - 38 5186 c.5143G>C c.(5143-5145)Gag>Cag p.E1715Q POLE_ENST00000535270.1_Missense_Mutation_p.E1688Q NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1715 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CTGTTGATCTCAACAGTGGCT 0.557000 DNA polymerases (catalytic subunits) 5 237 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37598529 37598529 + Silent SNP T T C TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr13:37598529T>C ENST00000360252.4 - 18 1630 c.1383A>G c.(1381-1383)aaA>aaG p.K461K SUPT20H_ENST00000475892.1_Silent_p.K460K|SUPT20H_ENST00000356185.3_Silent_p.K461K|SUPT20H_ENST00000350612.6_Silent_p.K460K|SUPT20H_ENST00000464744.1_Silent_p.K461K|SUPT20H_ENST00000542180.1_Silent_p.K424K NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) GGGGTCGATGTTTTACACCCT 0.353000 3 93 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14304130 14304130 + Missense_Mutation SNP C C T TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr16:14304130C>T ENST00000571589.1 + 4 357 c.185C>T c.(184-186)aCg>aTg p.T62M MKL2_ENST00000574045.1_Missense_Mutation_p.T62M|MKL2_ENST00000572567.1_Missense_Mutation_p.T51M|MKL2_ENST00000318282.5_Missense_Mutation_p.T62M|MKL2_ENST00000341243.5_Missense_Mutation_p.T51M|MKL2_ENST00000573051.1_Missense_Mutation_p.T11M NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 51 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CAAAGGAGGACGAGAGAACAA 0.483000 5 116 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204192635 204192635 + Frame_Shift_Del DEL G G - TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr1:204192635delG ENST00000272203.3 - 22 3426 c.3110delC c.(3109-3111)cafs p.P1037fs PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.P1057fs NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 1037 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GGCGCCCCGTGGGGATTCAGA 0.592 2 4 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 4 6 --- --- --- --- KCNQ3 3786 broad.mit.edu 37 8 133150232 133150233 + Frame_Shift_Ins INS - - T TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr8:133150232_133150233insT ENST00000388996.4 - 12 2019_2020 c.1599_1600insA c.(1597-1602)aatcaafs p.NQ533fs KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs|KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 533 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.F534I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTCTCCTTGAATTTTTTTTTAT 0.455 7 209 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 7 228 --- --- --- --- RP11-579D7.4 0 broad.mit.edu 37 12 49183367 49183367 + RNA DEL G G - rs10711161 TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr12:49183367delG ENST00000549864.1 + 0 9 ccctgccccagccccagcccc 0.657 4 2 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93545433 93545434 + Frame_Shift_Ins INS - - A TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr15:93545433_93545434insA ENST00000394196.4 + 33 5232_5233 c.4164_4165insA c.(4162-4167)ataaaafs p.IK1388fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1388 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAGTCCAATgaaaaaaaaaca 0.337 10 99 --- --- --- --- SUZ12P 0 broad.mit.edu 37 17 29096086 29096087 + RNA INS - - T TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr17:29096086_29096087insT ENST00000582557.1 + 0 1381 AATATTGGTAATTTTTTTTTTT 0.347 4 9 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15428695 15428734 + RNA DEL CAGGGCCAGGGCCAGGACCAGGAAAGGGCAATGTCAGGAC CAGGGCCAGGGCCAGGACCAGGAAAGGGCAATGTCAGGAC - rs67423764 TCGA-E3-A3DY-01A-11D-A20C-08 TCGA-E3-A3DY-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d4b3f8a-7f25-4f3b-8858-3ef0171dd446 f0611285-bed3-4543-a8ce-0e78419d38b5 g.chr21:15428695_15428734delCAGGGCCAGGGCCAGGACCAGGAAAGGGCAATGTCAGGAC ENST00000428809.1 + 0 177 agggccggggcagggccagggccaggaccaggaaagggcaatgtcaggaccagggccatg 0.671 2 4 --- --- --- ---