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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample SH2D1B 117157 broad.mit.edu 37 1 162368847 162368847 + Missense_Mutation SNP G G C TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr1:162368847G>C uc001gbz.1 - 3 351 c.229C>G c.(229-231)CCA>GCA p.P77A SH2D1B_uc001gca.1_Intron NM_053282 NP_444512 O14796 SH21B_HUMAN SH2 domain containing 1B 77 SH2. pancreas(1) 1 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TTTAGGCTTGGAAAGACCTGT 0.408 NaN 0 0 0 0.021553 0 5 60 KL 9365 broad.mit.edu 37 13 33628236 33628236 + Missense_Mutation SNP G G A TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr13:33628236G>A uc001uus.2 + 2 1160 c.1152G>A c.(1150-1152)ATG>ATA p.M384I KL_uc001uur.1_Missense_Mutation_p.M77I NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 384 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) ACCCTCACATGAAGTTCCGCC 0.403 NaN 0 0 0 0.105934 0 11 236 ZP2 7783 broad.mit.edu 37 16 21210985 21210985 + Silent SNP G G A TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr16:21210985G>A uc002dii.2 - 16 1833 c.1833C>T c.(1831-1833)GTC>GTT p.V611V ZP2_uc010bwn.1_Silent_p.V641V NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 611 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) AGTGGAAGTAGACCTGGAGAC 0.507 NaN 0 0 0 0.150653 0 4 45 FAM83C 128876 broad.mit.edu 37 20 33879832 33879832 + Silent SNP G G A rs138645862 TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr20:33879832G>A uc010zux.1 - 1 394 c.276C>T c.(274-276)AGC>AGT p.S92S FAM83C_uc002xcb.1_5'UTR NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 92 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCTGAGCCTCGCTGAGCTCAG 0.662 NaN 0 0 0 0.021553 0 6 43 GATSL3 652968 broad.mit.edu 37 22 30685448 30685448 + Silent SNP C C G TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr22:30685448C>G uc003ahd.2 - 1 169 c.39G>C c.(37-39)CTG>CTC p.L13L GATSL3_uc003ahc.2_Silent_p.L13L|GATSL3_uc003ahe.2_Silent_p.L13L|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'UTR|GATSL3_uc010gvs.2_5'UTR NM_001037666 NP_001032755 Q8WTX7 GATL3_HUMAN GATS protein-like 3 13 breast(1) 1 GGGCGACGCTCAGCACCCGCA 0.736 NaN 0 0 0 0.115264 0 2 5 RBM5 10181 broad.mit.edu 37 3 50155783 50155783 + Missense_Mutation SNP G G C TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr3:50155783G>C uc003cyg.2 + 25 2490 c.2342G>C c.(2341-2343)GGA>GCA p.G781A RBM5_uc011bdk.1_Missense_Mutation_p.G609A|RBM5_uc003cyh.2_Missense_Mutation_p.G238A|uc003cyi.1_Intron NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 781 G-patch.|Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CGGCTAAAGGGAGCTGGCCTA 0.572 NaN 0 0 0 0.115264 0 3 27 ARL6 84100 broad.mit.edu 37 3 97506888 97506888 + Missense_Mutation SNP G G C TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr3:97506888G>C uc003drv.2 + 7 717 c.404G>C c.(403-405)AGA>ACA p.R135T ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.R135T|ARL6_uc010hoy.2_Missense_Mutation_p.R135T NM_177976 NP_816931 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 135 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding 0 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) ATGGATCTTAGAGATGCAGTG 0.318 NaN Bardet-Biedl_syndrome 0 0 0 0.150653 0 4 57 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr3:126707544T>G uc003ejg.2 + 1 43 c.39T>G c.(37-39)GGT>GGG p.G13G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.567 NaN 0 0 0 0.09319 0 9 17 GPR87 53836 broad.mit.edu 37 3 151011992 151011992 + Missense_Mutation SNP C C G TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr3:151011992C>G uc003eyt.2 - 3 1403 c.1042G>C c.(1042-1044)GAA>CAA p.E348Q MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_023915 NP_076404 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 348 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATGCGAACTTCCGATCTTCTC 0.338 NaN 0 0 0 0.105934 0 13 161 GPR87 53836 broad.mit.edu 37 3 151012106 151012106 + Missense_Mutation SNP C C G TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr3:151012106C>G uc003eyt.2 - 3 1289 c.928G>C c.(928-930)GAT>CAT p.D310H MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_023915 NP_076404 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 310 Helical; Name=7; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATTATTGGATCCAGGCAAACA 0.343 NaN 0 0 0 0.09319 0 13 128 MUC4 4585 broad.mit.edu 37 3 195505813 195505814 + Missense_Mutation DNP TC TC CT TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr3:195505813_195505814TC>CT uc011bto.1 - 3 12713_12714 c.12253_12254GA>AG c.(12253-12255)GAC>AGC p.D4085S MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGGAAGTGTCGGTGACAGGA 0.594 NaN 0 0 0 0.115264 0 3 2 WDFY3 23001 broad.mit.edu 37 4 85617303 85617303 + Silent SNP T T C TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr4:85617303T>C uc003hpd.2 - 58 9129 c.8721A>G c.(8719-8721)CTA>CTG p.L2907L WDFY3_uc003hpe.1_Silent_p.L518L NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2907 BEACH. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCCACTCATGTAGATGGGCAC 0.413 NaN 0 0 0 0.038147 0 7 137 PECI 10455 broad.mit.edu 37 6 4116175 4116175 + Missense_Mutation SNP C C T TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr6:4116175C>T uc003mwf.2 - 10 1155 c.1118G>A c.(1117-1119)GGA>GAA p.G373E C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.3_Intron|PECI_uc003mwc.2_Missense_Mutation_p.G206E|PECI_uc003mwd.2_Missense_Mutation_p.G343E|PECI_uc003mwe.2_Missense_Mutation_p.G220E NM_206836 NP_996667 O75521 ECI2_HUMAN peroxisomal D3,D2-enoyl-CoA isomerase isoform 2 373 fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding 0 Ovarian(93;0.0925) all_hematologic(90;0.0895) TAGCCATCTTCCCTGAAGGAC 0.403 NaN 0 0 0 0.184627 0 5 59 PARK2 5071 broad.mit.edu 37 6 161771157 161771157 + Missense_Mutation SNP T T G TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr6:161771157T>G uc003qtx.3 - 12 1506 c.1372A>C c.(1372-1374)ATG>CTG p.M458L PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.M267L|PARK2_uc003qtw.3_3'UTR|PARK2_uc003qty.3_Missense_Mutation_p.M430L|PARK2_uc003qtz.3_Missense_Mutation_p.M309L|PARK2_uc011egf.1_Missense_Mutation_p.M132L NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 458 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TGGTCCCCCATGCAGACGCGG 0.622 NaN 0 0 0 0.115264 0 3 11 NPSR1 387129 broad.mit.edu 37 7 34851409 34851409 + Missense_Mutation SNP G G A TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr7:34851409G>A uc003teg.1 + 4 540 c.412G>A c.(412-414)GTC>ATC p.V138I AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.V138I|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.V138I|NPSR1_uc010kww.1_Missense_Mutation_p.V127I|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 138 Helical; Name=3; (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) CTCTACCTACGTCCTGGTGTC 0.483 NaN 0 0 0 0.038147 0 6 98 C7orf63 79846 broad.mit.edu 37 7 89938595 89938595 + Missense_Mutation SNP G G C TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr7:89938595G>C uc010lep.2 + 22 2820 c.2569G>C c.(2569-2571)GAA>CAA p.E857Q C7orf63_uc011khj.1_Missense_Mutation_p.E839Q|C7orf63_uc011khk.1_Missense_Mutation_p.E373Q NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 857 binding ovary(1) 1 AAGCCTTCAAGAAAAAGCTAT 0.294 NaN 0 0 0 0.021553 0 6 78 ZNF706 51123 broad.mit.edu 37 8 102213962 102213962 + Missense_Mutation SNP C C G TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr8:102213962C>G uc003yka.2 - 3 423 c.8G>C c.(7-9)CGT>CCT p.R3P ZNF706_uc003ykb.2_Missense_Mutation_p.R3P NM_001042510 NP_001035975 Q9Y5V0 ZN706_HUMAN HSPC038 protein 3 intracellular zinc ion binding p.R3P(2) ovary(2) 2 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGCTGTCCACGAGCCATATC 0.398 NaN 0 0 0 0.069288 0 9 30 MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + Splice_Site INS - - T rs139197361 by1000genomes TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr11:102738793_102738794insT uc001phk.2 - 5 675 c.630_splice c.e5+1 p.T210_splice NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 NaN NaN NaN NaN NaN NaN 7 6 --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr7:24705666delA uc003swx.2 + 9 1209 c.910delA c.(910-912)AAAfs p.K304fs MPP6_uc003swy.2_Frame_Shift_Del_p.K304fs|MPP6_uc010kur.2_5'UTR NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 304 protein complex assembly protein binding 0 TATAAGTAGCAAAAAAAAGAA 0.299 NaN NaN NaN NaN NaN NaN 7 177 --- ---