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 STAT4 6775 broad.mit.edu 37 2 191926496 191926496 + Silent SNP C C T TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr2:191926496C>T uc002usm.2 - 9 1308 c.993G>A c.(991-993)ccG>ccA p.P331P STAT4_uc002usn.2_Silent_p.P331P|STAT4_uc010zgk.1_Silent_p.P176P|STAT4_uc002uso.2_Silent_p.P331P NM_003151 NP_003142 Q14765 STAT4_HUMAN Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA. 331 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TAAGTACCAACGGCCTCTGAG 0.393000 13 154 0 0 1 0 0 ODZ2 57451 broad.mit.edu 37 5 167645509 167645509 + Missense_Mutation SNP C C T TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr5:167645509C>T uc010jjd.3 + 22 4586 c.4586C>T c.(4585-4587)gCg>gTg p.A1529V ODZ2_uc003lzr.4_Missense_Mutation_p.A1299V|ODZ2_uc003lzt.4_Missense_Mutation_p.A902V|ODZ2_uc010jje.3_Missense_Mutation_p.A793V NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GATGCCTACGCGACTGATGCC 0.502000 55 101 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056144 26056144 + Silent SNP A A G TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr6:26056144A>G uc003nfw.3 - 0 556 c.513T>C c.(511-513)gcT>gcC p.A171A NM_005319 NP_005310 P16403 H12_HUMAN Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA. 171 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 TTGGGCTCTTAGCCACTTTCT 0.567000 5 87 0 0 1 0 0 ADARB1 104 broad.mit.edu 37 21 46591540 46591540 + Missense_Mutation SNP G G A TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr21:46591540G>A uc011afo.1 + 1 117 c.116G>A c.(115-117)cGc>cAc p.R39H ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_5'UTR|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_5'UTR|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_5'UTR|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc002zgy.2_5'UTR NM_001160230 NP_001153702 P78563 RED1_HUMAN Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 7, mRNA. 84 RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing nucleoplasm|nucleus RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) AACAGTCTCCGCCAGTCAAGA 0.358000 6 22 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20891439 20891439 + Missense_Mutation SNP G G T TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr22:20891439G>T uc002zsp.3 + 1 184 c.104G>T c.(103-105)aGt>aTt p.S35I MED15_uc002zsn.1_5'UTR|MED15_uc002zso.2_Missense_Mutation_p.S35I|MED15_uc002zsq.3_Missense_Mutation_p.S35I|MED15_uc010gso.3_Missense_Mutation_p.S35I|MED15_uc002zsr.3_Missense_Mutation_p.S9I|MED15_uc011ahs.2_Missense_Mutation_p.S9I|MED15_uc011aht.1_Missense_Mutation_p.S9I NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA. 35 Interaction with SREBF1. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) GTGGCACACAGTAAATCCAGC 0.552000 14 27 0 0 1 0 0 NUDT5 11164 broad.mit.edu 37 10 12228270 12228270 + Silent SNP C C T TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr10:12228270C>T uc001ilj.3 - 1 437 c.21G>A c.(19-21)acG>acA p.T7T NM_014142 NP_054861 Q9UKK9 NUDT5_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 5 (NUDT5), mRNA. 7 D-ribose catabolic process|ribonucleoside diphosphate catabolic process intracellular ADP-ribose diphosphatase activity|magnesium ion binding breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1) 8 Renal(717;0.228) GAGAAGATTCCGTTGGTTCTT 0.398000 8 45 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51520089 51520089 + Missense_Mutation SNP C C A TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr15:51520089C>A uc001zyz.4 - 4 589 c.338G>T c.(337-339)aGc>aTc p.S113I CYP19A1_uc001zza.4_Missense_Mutation_p.S113I|CYP19A1_uc001zzb.2_Missense_Mutation_p.S113I|CYP19A1_uc001zzd.3_Missense_Mutation_p.S113I|CYP19A1_uc010bey.1_Missense_Mutation_p.S113I NM_031226 NP_112503 P11511 CP19A_HUMAN Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA. 113 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GAATCGAGAGCTGTAATGATT 0.443000 14 27 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124332605 124332605 + Missense_Mutation SNP G G T TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr12:124332605G>T uc001uft.4 + 31 5583 c.5558G>T c.(5557-5559)tGt>tTt p.C1853F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1853 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGCTTGCTCTGTGTTGTCACC 0.587000 33 51 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235952076 235952076 + Missense_Mutation SNP T T C TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr1:235952076T>C uc001hxj.2 - 12 4788 c.4613A>G c.(4612-4614)cAt>cGt p.H1538R LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript NM_000081 NP_000072 Q99698 LYST_HUMAN Homo sapiens lysosomal trafficking regulator (LYST), mRNA. 1538 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGAAATTATATGAATACATCC 0.413000 3 25 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056142 26056142 + Missense_Mutation SNP T T C TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr6:26056142T>C uc003nfw.3 - 0 558 c.515A>G c.(514-516)aAg>aGg p.K172R NM_005319 NP_005310 P16403 H12_HUMAN Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA. 172 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 CTTTGGGCTCTTAGCCACTTT 0.562000 5 83 0 0 1 0 0 C21orf2 755 broad.mit.edu 37 21 45753014 45753014 + Missense_Mutation SNP A A G TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr21:45753014A>G uc002zeq.2 - 3 483 c.275T>C c.(274-276)cTg>cCg p.L92P C21orf2_uc002zeo.1_Missense_Mutation_p.L51P|C21orf2_uc002zep.2_Missense_Mutation_p.L92P|C21orf2_uc002zer.2_Missense_Mutation_p.L92P NM_004928 NP_004919 O43822 CU002_HUMAN Homo sapiens chromosome 21 open reading frame 2 (C21orf2), mRNA. 92 endometrium(2) 2 Colorectal(79;0.0806) GGCCAGCCACAGCACCCGCAG 0.687000 3 11 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241468502 241468502 + Missense_Mutation SNP T T A TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr2:241468502T>A uc010fzd.1 - 4 1030 c.905A>T c.(904-906)aAt>aTt p.N302I ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.N213I|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA. 213 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) AGGGGTCTCATTGATTATGAA 0.512000 29 47 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579307 55579307 + Missense_Mutation SNP G G A rs112907233 byFrequency TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr11:55579307G>A uc001nhw.1 + 0 365 c.365G>A c.(364-366)cGc>cAc p.R122H NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122G(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) GCCTATGACCGCTTTGTGGCC 0.522000 40 88 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113425106 113425106 + Silent SNP C C T TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr12:113425106C>T uc001tuj.3 + 1 581 c.441C>T c.(439-441)aaC>aaT p.N147N OAS2_uc001tuh.3_Silent_p.N147N|OAS2_uc001tui.1_Silent_p.N147N NM_016817 NP_058197 P29728 OAS2_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA. 147 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CCGCCTTCAACGCTCTGAGTA 0.493000 21 19 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76565292 76565292 + Missense_Mutation SNP A A T TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr17:76565292A>T uc010dhp.2 - 8 1365 c.1240T>A c.(1240-1242)Ttt>Att p.F414I DNAH17_uc002jvv.2_Missense_Mutation_p.F116I NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ATCCTGGAAAAGGCAAGAGAA 0.478000 4 11 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139904529 139904529 + Frame_Shift_Del DEL G G - TCGA-J8-A4HW-01A-11D-A257-08 TCGA-J8-A4HW-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14fa0ebd-b25b-4384-b465-c19cd0cf5fa9 269e9978-ced5-4398-9523-947b064a3ca8 g.chr9:139904529delG uc004ckm.1 - 41 6538 c.6488delC c.(6487-6489)ccgfs p.P2163fs ABCA2_uc022bpy.1_Frame_Shift_Del_p.P2064fs|ABCA2_uc022bpz.1_Frame_Shift_Del_p.P2134fs|ABCA2_uc011mem.1_Frame_Shift_Del_p.P2133fs|ABCA2_uc004ckl.1_Frame_Shift_Del_p.P2064fs|ABCA2_uc022bqa.1_5'Flank NM_212533 NP_997698 Q9BZC7 ABCA2_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA. 2133 ABC transporter 2. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GTCACACTGCGGGCAGTAGCC 0.706 2 4 --- --- --- ---