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 OTOGL 283310 broad.mit.edu 37 12 80647295 80647295 + Silent SNP C C T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr12:80647295C>T ENST00000458043.2 + 13 1314 c.1308C>T c.(1306-1308)tgC>tgT p.C436C OTOGL_ENST00000547103.1_Silent_p.C436C NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATTGCCCATGCGGTTTTCATG 0.363000 10 31 0 0 1 0 0 RP11-368J21.3 0 broad.mit.edu 37 16 22558314 22558314 + RNA SNP G G A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr16:22558314G>A ENST00000550753.1 + 0 1296 NR_003676.2 CTGAGACCACGAAGGACTTGG 0.443000 4 39 0 0 1 0 0 ZNF155 7711 broad.mit.edu 37 19 44495748 44495748 + Missense_Mutation SNP C C G TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr19:44495748C>G ENST00000270014.2 + 3 192 c.64C>G c.(64-66)Ctg>Gtg p.L22V ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V|ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 22 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) TGAGGAGGAGCTGGGGCTGCT 0.532000 5 178 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725488 87725488 + Missense_Mutation SNP G G A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr6:87725488G>A ENST00000305344.4 + 2 1139 c.436G>A c.(436-438)Gtc>Atc p.V146I HTR1E_ENST00000369584.1_Missense_Mutation_p.V146I NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 146 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.V146I(2) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GATCCTTACCGTCTGGACCAT 0.582000 11 26 0 0 1 0 0 PLOD3 8985 broad.mit.edu 37 7 100859736 100859736 + Missense_Mutation SNP T T C TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr7:100859736T>C ENST00000223127.3 - 3 691 c.293A>G c.(292-294)gAg>gGg p.E98G NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 98 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) AGCGTATTTCTCCATTTCCTT 0.567000 11 38 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198266711 198266711 + Missense_Mutation SNP T T C TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr2:198266711T>C ENST00000335508.5 - 15 2312 c.2221A>G c.(2221-2223)Aag>Gag p.K741E NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 741 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) GGATTTACCTTTCCTCTGTGT 0.353000 Mis myelodysplastic syndrome 21 48 0 0 1 0 0 NUP85 79902 broad.mit.edu 37 17 73228981 73228981 + Missense_Mutation SNP G G A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr17:73228981G>A ENST00000447371.2 + 14 1352 c.928G>A c.(928-930)Gtc>Atc p.V310I NUP85_ENST00000579324.1_Missense_Mutation_p.V366I|NUP85_ENST00000579298.1_Missense_Mutation_p.V433I|NUP85_ENST00000541827.1_Missense_Mutation_p.V432I|NUP85_ENST00000245544.4_Missense_Mutation_p.V478I|NUP85_ENST00000540768.1_Missense_Mutation_p.V81I Q9BW27 NUP85_HUMAN nucleoporin 85kDa 478 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) CATGAAAGCCGTCCGCAACAA 0.532000 4 159 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1556991 1556991 + Missense_Mutation SNP T T C TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr16:1556991T>C ENST00000262319.6 + 18 2444 c.2165T>C c.(2164-2166)cTg>cCg p.L722P NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 722 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) GAAGACCAGCTGGTTCTCGGA 0.652000 4 9 0 0 1 0 0 HOOK2 29911 broad.mit.edu 37 19 12875684 12875684 + Missense_Mutation SNP C C T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr19:12875684C>T ENST00000264827.5 - 19 1935 c.1765G>A c.(1765-1767)Gcg>Acg p.A589T HOOK2_ENST00000397668.3_Missense_Mutation_p.A591T NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 591 Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 CGCAAGTCCGCGTCCTTCTTC 0.647000 OREG0025273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 104 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72363725 72363725 + Silent SNP T T C TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr17:72363725T>C ENST00000335666.4 + 1 129 c.81T>C c.(79-81)ggT>ggC p.G27G NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 27 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CTGTCCTGGGTACAGAAGCAT 0.507000 12 40 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163279881 163279881 + Missense_Mutation SNP C C T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr2:163279881C>T ENST00000332142.5 - 9 2218 c.2119G>A c.(2119-2121)Gca>Aca p.A707T KCNH7_ENST00000328032.4_Missense_Mutation_p.A700T NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 707 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TAAGTCCATGCGTGCTGGAAA 0.438000 27 110 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79027136 79027136 + Missense_Mutation SNP G G T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr5:79027136G>T ENST00000446378.2 + 2 2579 c.2548G>T c.(2548-2550)Gtt>Ttt p.V850F NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 850 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGATTTGGTTGTTGCATCTGA 0.478000 5 58 0.248553 0.248553 1 1 0 CD5L 922 broad.mit.edu 37 1 157804497 157804497 + Missense_Mutation SNP G G T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr1:157804497G>T ENST00000368174.4 - 4 514 c.418C>A c.(418-420)Ctg>Atg p.L140M NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 140 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity p.L140L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCGTCAGCCAGCCTGACACCC 0.582000 10 43 0.0809354 0.0871612 1 1 0 APBB1IP 54518 broad.mit.edu 37 10 26790053 26790053 + Missense_Mutation SNP G G C TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr10:26790053G>C ENST00000356785.4 + 5 699 c.466G>C c.(466-468)Gac>Cac p.D156H APBB1IP_ENST00000376236.4_Intron Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 0 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 AAGTATGTGGGACCAGAGATG 0.483000 18 69 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C C T rs1055042 by1000genomes TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr22:18778612C>T ENST00000412448.1 - 0 793 GCGGCCACGGCAGCCCTGGTG 0.637000 3 9 0 0 1 0 0 CTD-3074O7.11 0 broad.mit.edu 37 11 66291318 66291318 + Missense_Mutation SNP C C T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr11:66291318C>T ENST00000419755.3 + 11 1264 c.1186C>T c.(1186-1188)Cgt>Tgt p.R396C BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.R359C|BBS1_ENST00000455748.2_Missense_Mutation_p.R262C|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Intron CCGCATTTATCGTGACAAGGC 0.627000 9 30 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27802537 27802537 + Missense_Mutation SNP C C T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr2:27802537C>T ENST00000408964.2 + 1 3149 c.3098C>T c.(3097-3099)tCc>tTc p.S1033F NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1033 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TCAGAGTCTTCCCTCAGCATA 0.453000 18 74 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51673507 51673507 + Missense_Mutation SNP G G A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr3:51673507G>A ENST00000409535.1 + 12 2058 c.1933G>A c.(1933-1935)Gtg>Atg p.V645M RAD54L2_ENST00000296477.3_Missense_Mutation_p.V339M NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 645 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GGACCTAGACGTGGAAGAACT 0.557000 9 27 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73186558 73186558 + Silent SNP T T A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr4:73186558T>A ENST00000286657.4 - 7 1011 c.975A>T c.(973-975)ccA>ccT p.P325P NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 325 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGCTTCTGGATGGGTTTCCCC 0.438000 13 48 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5969418 5969418 + Missense_Mutation SNP A A G TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr11:5969418A>G ENST00000329564.6 + 1 849 c.842A>G c.(841-843)aAt>aGt p.N281S NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCTTGCTCAATGTTCTCCAC 0.478000 27 93 0 0 1 0 0 GSTA2 2939 broad.mit.edu 37 6 52619834 52619834 + Missense_Mutation SNP A A G TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr6:52619834A>G ENST00000493422.1 - 4 334 c.179T>C c.(178-180)aTt>aCt p.I60T NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 60 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) CATCCCATCAATCTCAACCAT 0.428000 10 182 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57133480 57133480 + Silent SNP C C T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr19:57133480C>T ENST00000328070.6 + 3 1059 c.825C>T c.(823-825)tgC>tgT p.C275C NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 275 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GCCCCGAGTGCGGGCGAGCCT 0.662000 4 77 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141619260 141619260 + Silent SNP G G A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr7:141619260G>A ENST00000548136.1 + 1 644 c.585G>A c.(583-585)acG>acA p.T195T MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CTCTTTTCACGGAGTTTATCC 0.388000 19 137 0 0 1 0 0 SLC25A27 9481 broad.mit.edu 37 6 46637938 46637938 + Missense_Mutation SNP G G T TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr6:46637938G>T ENST00000371347.5 + 7 1023 c.771G>T c.(769-771)atG>atT p.M257I SLC25A27_ENST00000604908.1_3'UTR|SLC25A27_ENST00000411689.2_Intron|SLC25A27_ENST00000452689.2_Missense_Mutation_p.M171I NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 257 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) GCAGAATAATGAATCAACCAC 0.348000 4 58 0.150653 0.158186 1 1 0 TRAT1 50852 broad.mit.edu 37 3 108572602 108572602 + Missense_Mutation SNP G G A rs142175794 byFrequency TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr3:108572602G>A ENST00000295756.6 + 6 669 c.439G>A c.(439-441)Gtt>Att p.V147I TRAT1_ENST00000426646.1_Missense_Mutation_p.V110I NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 147 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 AGATGCCAGCGTTTCTAAGAC 0.458000 8 53 0 0 1 0 0 TXNRD2 10587 broad.mit.edu 37 22 19903312 19903312 + Silent SNP G G A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr22:19903312G>A ENST00000400519.1 - 6 500 c.501C>T c.(499-501)tgC>tgT p.C167C TXNRD2_ENST00000400518.1_Silent_p.C138C|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400521.1_Silent_p.C168C|TXNRD2_ENST00000542719.1_Silent_p.C138C|TXNRD2_ENST00000334363.9_Silent_p.C168C|TXNRD2_ENST00000535882.1_Silent_p.C167C|TXNRD2_ENST00000400525.1_Silent_p.C145C Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 168 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) TGGCAACGCCGCAAACCGTGT 0.463000 3 55 0 0 1 0 0 KTN1 0 broad.mit.edu 37 14 56079014 56079014 + Missense_Mutation SNP A A G TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr14:56079014A>G ENST00000416613.1 + 1 320 c.248A>G c.(247-249)gAc>gGc p.D83G KTN1_ENST00000438792.2_Missense_Mutation_p.D83G|KTN1_ENST00000395311.1_Missense_Mutation_p.D83G|KTN1_ENST00000395309.3_Missense_Mutation_p.D83G|KTN1_ENST00000395308.1_Missense_Mutation_p.D83G|KTN1_ENST00000413890.2_Missense_Mutation_p.D83G|KTN1_ENST00000395314.3_Missense_Mutation_p.D83G Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 83 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 GTACCTCGAGACTTTAAATTA 0.358000 T RET papillary thryoid 14 53 0 0 1 0 0 SLC19A2 10560 broad.mit.edu 37 1 169438005 169438005 + Missense_Mutation SNP G G A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr1:169438005G>A ENST00000236137.5 - 4 1336 c.1100C>T c.(1099-1101)tCt>tTt p.S367F SLC19A2_ENST00000367802.3_Missense_Mutation_p.S329F|SLC19A2_ENST00000367804.3_Missense_Mutation_p.S166F NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 367 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) AGAAAAGAGAGATAATGTCAT 0.383000 4 82 0 0 1 0 0 ICT1 3396 broad.mit.edu 37 17 73016712 73016712 + Missense_Mutation SNP A A C TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr17:73016712A>C ENST00000301585.5 + 5 509 c.496A>C c.(496-498)Aag>Cag p.K166Q NM_001545.1 NP_001536.1 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 166 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1) 6 all_lung(278;0.226) CCAGACACCGAAGGAGCCAAC 0.468000 3 56 0 0 1 0 0 ARNTL2 56938 broad.mit.edu 37 12 27553667 27553667 + Missense_Mutation SNP C C G TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr12:27553667C>G ENST00000544915.1 + 9 1237 c.1018C>G c.(1018-1020)Cgg>Ggg p.R340G RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R360G|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R289G|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R337G|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R337G|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R374G|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R326G NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 374 N -> S (in dbSNP:rs1037921). circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) ATTTATAACCCGGTTTGCAGT 0.343000 15 62 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97887879 97887879 + Silent SNP T T C TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr3:97887879T>C ENST00000356526.2 + 1 336 c.336T>C c.(334-336)tgT>tgC p.C112C NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C112C(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CCACAGAATGTTTTCTCTTGG 0.378000 4 277 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34240746 34240746 + Silent SNP G G A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr20:34240746G>A ENST00000374114.3 - 3 2762 c.2499C>T c.(2497-2499)ccC>ccT p.P833P CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Silent_p.P833P|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.P833P NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 833 Gly-rich.|Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) ggccagggccggggccggggc 0.612000 3 46 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26608795 26608796 + In_Frame_Ins INS - - GGGGCT rs146441030 by1000genomes TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr1:26608795_26608796insGGGGCT ENST00000314675.7 - 11 1276_1277 c.1197_1198insAGCCCC c.(1195-1200)ccaata>ccAGCCCCaata p.398_399insPA UBXN11_ENST00000374217.2_In_Frame_Ins_p.485_486insPA|UBXN11_ENST00000357089.4_In_Frame_Ins_p.485_486insPA|UBXN11_ENST00000374222.1_In_Frame_Ins_p.518_519insPA|UBXN11_ENST00000374221.3_In_Frame_Ins_p.518_519insPA|UBXN11_ENST00000374223.1_In_Frame_Ins_p.275_276insPA NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 518 UBX. cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 GTGCTTTATTGggggctgggac 0.738 6 10 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47339172 47339172 + RNA DEL T T - TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr1:47339172delT ENST00000505841.1 - 0 775 NR_002788.2 ACCAGCTGTCTTTTTTTTTTA 0.463 2 4 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475010 217475010 + RNA DEL G G - TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr2:217475010delG ENST00000441803.1 + 0 195 ttttttttttGAAAGAAAGGC 0.393 3 5 --- --- --- --- CCNI 10983 broad.mit.edu 37 4 77969728 77969728 + Frame_Shift_Del DEL A A - TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr4:77969728delA ENST00000237654.4 - 7 1354 c.778delT c.(778-780)atfs p.Y260fs CCNI_ENST00000537948.1_Frame_Shift_Del_p.Y246fs NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 260 spermatogenesis NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 CGGTAGACATAAACGGAATTC 0.527 9 54 --- --- --- --- C4orf51 646603 broad.mit.edu 37 4 146601486 146601486 + Frame_Shift_Del DEL C C - TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr4:146601486delC ENST00000438731.1 + 1 131 c.131delC c.(130-132)tcfs p.S44fs NM_001080531.1 NP_001074000.1 C9J302 CD051_HUMAN chromosome 4 open reading frame 51 44 haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 6 TCAGATTCTTCCGTGACAACA 0.458 19 94 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560458 147560466 + In_Frame_Del DEL GGCGGCGGC GGCGGCGGC - rs67907220 TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr4:147560458_147560466delGGCGGCGGC ENST00000281321.3 + 1 414_422 c.166_174delGGCGGCGGC c.(166-174)del p.GGG65del AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 65 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CGCTggtggtggcggcggcggcggcggcg 0.761 7 3 --- --- --- --- LIFR 3977 broad.mit.edu 37 5 38482128 38482129 + Frame_Shift_Ins INS - - A TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr5:38482128_38482129insA ENST00000263409.4 - 20 3024_3025 c.2862_2863insT c.(2860-2865)ataggafs p.G955fs LIFR_ENST00000453190.2_Frame_Shift_Ins_p.G955fs NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 955 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ATTTCTTCCTCAATGATGGGTG 0.460 T PLAG1 salivary adenoma 7 162 --- --- --- --- PHF2 5253 broad.mit.edu 37 9 96439004 96439005 + In_Frame_Ins INS - - CCTGCCTCCACCACA rs75653373 by1000genomes TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr9:96439004_96439005insCCTGCCTCCACCACA ENST00000359246.4 + 21 3328_3329 c.2961_2962insCCTGCCTCCACCACA c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc p.987_988TG>TLPPPHG PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 987 Ser/Thr-rich. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding p.T987_P988insPASTT(1)|p.T987T(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) cctctaccaccccggcctccac 0.688 5 1 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709885 22709885 + RNA DEL G G - TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr15:22709885delG ENST00000314246.8 - 0 1069 TATCTAATGTGGGGGGGGCTG 0.537 7 22 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 5 11 --- --- --- --- ILF3 3609 broad.mit.edu 37 19 10781285 10781286 + Splice_Site INS - - T rs111709385 TCGA-VP-A87C-01A-11D-A34U-08 TCGA-VP-A87C-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9a3cde7-512a-4a9a-ba0c-3f630f015fb3 d76bd858-d1bd-40a1-9abf-4015860fd89b g.chr19:10781285_10781286insT ENST00000449870.1 + 2 320 c.e2+1 ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000590261.1_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000407004.3_Splice_Site NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) AGTAAAAATGGTAAGTTTGTTT 0.332 9 52 --- --- --- ---