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 OR2W3 343171 broad.mit.edu 37 1 248059477 248059477 + Missense_Mutation SNP G G A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr1:248059477G>A ENST00000537741.1 + 3 846 c.589G>A c.(589-591)Ggc>Agc p.G197S OR2W3_ENST00000360358.3_Missense_Mutation_p.G197S Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCCATCGAAGGCACCGTCTT 0.597000 6 106 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71500137 71500137 + Nonsense_Mutation SNP C C G TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr4:71500137C>G ENST00000396073.3 + 6 604 c.323C>G c.(322-324)tCa>tGa p.S108* NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 108 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CGGAAATCCTCAGCACCCAAA 0.522000 19 100 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70048984 70048984 + Silent SNP G G A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr12:70048984G>A ENST00000330891.5 - 10 1936 c.1710C>T c.(1708-1710)agC>agT p.S570S BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.S464S|BEST3_ENST00000488961.1_Silent_p.S357S NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 570 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TTTCCTCAGCGCTGGCTGAAA 0.557000 21 28 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70756122 70756122 + Silent SNP C C T TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chrX:70756122C>T ENST00000373719.3 + 2 349 c.132C>T c.(130-132)tgC>tgT p.C44C OGT_ENST00000373701.3_Silent_p.C34C|OGT_ENST00000498566.1_3'UTR NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 44 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) AGAGACACTGCATGCAGCTCT 0.478000 18 24 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43625500 43625500 + Missense_Mutation SNP G G A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr9:43625500G>A ENST00000332857.6 - 4 3215 c.3187C>T c.(3187-3189)Cgg>Tgg p.R1063W NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TGGGAAGCCCGCATGTTCCCA 0.557000 4 91 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55259298 55259298 + Missense_Mutation SNP T T C TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr5:55259298T>C ENST00000381298.2 - 7 1007 c.695A>G c.(694-696)aAc>aGc p.N232S IL6ST_ENST00000381287.4_Missense_Mutation_p.N232S|IL6ST_ENST00000381294.3_Missense_Mutation_p.N232S|IL6ST_ENST00000522633.2_Missense_Mutation_p.N232S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.N232S|IL6ST_ENST00000536319.1_Missense_Mutation_p.N232S|IL6ST_ENST00000502326.3_Missense_Mutation_p.N232S|IL6ST_ENST00000381293.2_Missense_Mutation_p.N66S NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 232 Fibronectin type-III 2. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) TTCCTCTGAGTTGATCACTGA 0.294000 O hepatocellular ca 12 41 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54754889 54754889 + Silent SNP T T C TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr19:54754889T>C ENST00000450632.1 - 13 1823 c.1746A>G c.(1744-1746)agA>agG p.R582R LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 388 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTCCATCTGTCTGTCCTCTT 0.597000 4 38 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202287753 202287753 + Missense_Mutation SNP C C G TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr1:202287753C>G ENST00000367278.3 + 18 2411 c.2322C>G c.(2320-2322)caC>caG p.H774Q LGR6_ENST00000439764.2_Missense_Mutation_p.H635Q|LGR6_ENST00000255432.7_Missense_Mutation_p.H722Q NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 774 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 TGGTGAGGCACGTGGCCTGGC 0.642000 3 35 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45910870 45910870 + Missense_Mutation SNP G G A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr20:45910870G>A ENST00000311275.7 - 10 1167 c.914C>T c.(913-915)gCc>gTc p.A305V ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325V|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242V|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300V|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325V|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A300V|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332V|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325V|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300V|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300V|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305V Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 305 PWWP. protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) AAAGAATCGGGCATCGACCTG 0.448000 5 68 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1381197 1381197 + Silent SNP G G A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr17:1381197G>A ENST00000359786.5 - 13 1794 c.1470C>T c.(1468-1470)atC>atT p.I490I MYO1C_ENST00000575158.1_Silent_p.I455I|MYO1C_ENST00000361007.2_Silent_p.I455I|MYO1C_ENST00000438665.2_Silent_p.I471I|MYO1C_ENST00000545534.2_Silent_p.I466I NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 490 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AAATCGAGATGATGCCCTTAA 0.567000 6 111 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095651 178095651 + Silent SNP T T C TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr2:178095651T>C ENST00000397062.3 - 5 2234 c.1680A>G c.(1678-1680)ttA>ttG p.L560L NFE2L2_ENST00000464747.1_Silent_p.L544L|NFE2L2_ENST00000446151.2_Silent_p.L537L|NFE2L2_ENST00000397063.4_Silent_p.L544L NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 560 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) CTTCGAGATATAAGGTGCTGA 0.358000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 6 103 0 0 1 0 0 ZNF574 64763 broad.mit.edu 37 19 42584442 42584442 + Nonsense_Mutation SNP C C T TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr19:42584442C>T ENST00000600245.1 + 2 2339 c.1684C>T c.(1684-1686)Caa>Taa p.Q562* ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Q652*|ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Q562* Q6ZN55 ZN574_HUMAN zinc finger protein 574 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) GGCTTTCACGCAAAGCTCCAC 0.632000 5 74 0 0 1 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139302344 139302344 + Silent SNP T T C TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr9:139302344T>C ENST00000298537.7 - 3 478 c.267A>G c.(265-267)agA>agG p.R89R SDCCAG3_ENST00000371725.3_Silent_p.R39R|SDCCAG3_ENST00000357365.3_Silent_p.R112R NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 112 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) TCAGAAACTCTCTAAAAGAGA 0.453000 5 62 0 0 1 0 0 ZNF485 220992 broad.mit.edu 37 10 44112593 44112593 + Missense_Mutation SNP A A G TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr10:44112593A>G ENST00000361807.3 + 5 1296 c.1102A>G c.(1102-1104)Acc>Gcc p.T368A ZNF485_ENST00000374435.3_Missense_Mutation_p.T368A|ZNF485_ENST00000374437.2_Missense_Mutation_p.T277A NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 AAAGAGCTCAACCCTTACTGG 0.443000 9 33 0 0 1 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46053346 46053346 + Silent SNP C C T TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr17:46053346C>T ENST00000536708.2 + 8 949 c.840C>T c.(838-840)ctC>ctT p.L280L CDK5RAP3_ENST00000338399.4_Silent_p.L255L NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 255 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 GACCCCACCTCGAGGAGCTTC 0.602000 3 28 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45910871 45910871 + Missense_Mutation SNP C C T TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr20:45910871C>T ENST00000311275.7 - 10 1166 c.913G>A c.(913-915)Gcc>Acc p.A305T ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A300T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305T Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 305 PWWP. protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) AAGAATCGGGCATCGACCTGC 0.448000 5 67 0 0 1 0 0 INPP1 3628 broad.mit.edu 37 2 191231466 191231466 + Missense_Mutation SNP C C G TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr2:191231466C>G ENST00000392329.2 + 5 1011 c.311C>G c.(310-312)gCa>gGa p.A104G INPP1_ENST00000322522.4_Missense_Mutation_p.A104G|INPP1_ENST00000541441.1_Missense_Mutation_p.A104G NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 104 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) GAGGAAACAGCAGAGCTTCTT 0.448000 5 71 0 0 1 0 0 KLHL7 55975 broad.mit.edu 37 7 23213904 23213904 + Missense_Mutation SNP C C A TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr7:23213904C>A ENST00000322231.7 + 12 2172 c.1682C>A c.(1681-1683)aCc>aAc p.T561N KLHL7_ENST00000539124.1_Missense_Mutation_p.T507N|KLHL7_ENST00000409689.1_Missense_Mutation_p.T535N|KLHL7_ENST00000339077.4_Missense_Mutation_p.T583N|KLHL7_ENST00000545443.1_Missense_Mutation_p.T561N|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000542558.1_Missense_Mutation_p.T358N Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 583 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AATGAAGAGACCCTTGAAACA 0.408000 20 35 1.28384e-07 1.38655e-07 1 1 0 RP11-34D15.2 0 broad.mit.edu 37 10 102104600 102104601 + RNA INS - - T TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr10:102104600_102104601insT ENST00000429420.1 - 0 103 AAAAATCACAAttttttttttt 0.401 2 4 --- --- --- --- OR5P4P 81185 broad.mit.edu 37 11 7768343 7768343 + RNA DEL T T - TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr11:7768343delT ENST00000527565.1 - 0 542 CAAGGTGGCATTTGTGATCTA 0.473 2 4 --- --- --- --- MS4A4E 643680 broad.mit.edu 37 11 59982050 59982050 + Frame_Shift_Del DEL T T - TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr11:59982050delT ENST00000427611.2 - 5 491 c.272delA c.(271-273)agfs p.K91fs MS4A4E_ENST00000398984.2_Frame_Shift_Del_p.K104fs|MS4A4E_ENST00000425663.1_Frame_Shift_Del_p.K61fs|MS4A4E_ENST00000526086.1_Frame_Shift_Del_p.K72fs|MS4A4E_ENST00000528394.1_Frame_Shift_Del_p.K104fs|MS4A4E_ENST00000398986.2_Frame_Shift_Del_p.K72fs membrane-spanning 4-domains, subfamily A, member 4E ovary(1) 1 TCACCAGACCTTTTGTTGTTC 0.308 2 4 --- --- --- --- ANKK1 255239 broad.mit.edu 37 11 113268739 113268740 + Splice_Site DEL GT GT - TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chr11:113268739_113268740delGT ENST00000303941.3 + 7 1088 c.e7+1 NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) ATGGACAGTGGTGAGTCTGGGT 0.599 2 4 --- --- --- --- SCML2 10389 broad.mit.edu 37 X 18283726 18283726 + Frame_Shift_Del DEL T T - TCGA-QR-A70C-01A-21D-A35D-08 TCGA-QR-A70C-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4765d0df-a878-4492-8744-14674ed5fd2e 9def449a-5289-4f58-8bb7-5684a7dc9f64 g.chrX:18283726delT ENST00000251900.4 - 8 1086 c.927delA c.(925-927)aafs p.K309fs SCML2_ENST00000398048.3_Frame_Shift_Del_p.K45fs NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 309 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) AGTTTGGACCTTTTTTCCTTG 0.358 7 162 --- --- --- ---