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 ENST00000392320.2 - 10 1307 c.993G>A c.(991-993)ccG>ccA p.P331P STAT4_ENST00000358470.4_Silent_p.P331P NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 331 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 OAS2 0 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 ENST00000392583.2 + 2 648 c.441C>T c.(439-441)aaC>aaT p.N147N OAS2_ENST00000342315.4_Silent_p.N147N|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Silent_p.N147N NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 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|nucleotidyltransferase activity|RNA binding 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 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 ENST00000391987.1 - 5 1004 c.638A>T c.(637-639)aAt>aTt p.N213I ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.N302I|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.N213I|ANKMY1_ENST00000406958.1_Intron Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 213 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 TENM2 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 ENST00000519204.1 + 22 4368 c.4250C>T c.(4249-4251)gCg>gTg p.A1417V TENM2_ENST00000518659.1_Missense_Mutation_p.A1538V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1537V|TENM2_ENST00000520394.1_Missense_Mutation_p.A1299V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1362V teneurin transmembrane protein 2 GATGCCTACGCGACTGATGCC 0.502000 55 101 0 0 1 0 0 ESRRA 2101 broad.mit.edu 37 11 64082580 64082580 + 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.chr11:64082580C>T ENST00000405666.1 + 6 1084 c.850C>T c.(850-852)Ctg>Ttg p.L284L ESRRA_ENST00000000442.6_Silent_p.L284L|ESRRA_ENST00000406310.1_Silent_p.L283L P11474 ERR1_HUMAN estrogen-related receptor alpha 284 Ligand binding domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(8) 14 GCAGGATGAGCTGGCCTTCGC 0.642000 3 25 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195395402 195395402 + RNA SNP C C A rs149044725 by1000genomes 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.chr3:195395402C>A ENST00000445430.1 + 0 809 TACGGGCGCACCTACTTGAGC 0.597000 3 19 0.014758 0.014758 1 1 0 CYP19A1 0 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 ENST00000396402.1 - 4 491 c.338G>T c.(337-339)aGc>aTc p.S113I CYP19A1_ENST00000559878.1_Missense_Mutation_p.S113I|CYP19A1_ENST00000396404.4_Missense_Mutation_p.S113I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000557858.1_Missense_Mutation_p.S113I|CYP19A1_ENST00000405913.3_Missense_Mutation_p.S113I|CYP19A1_ENST00000260433.2_Missense_Mutation_p.S113I NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 113 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 4.3838e-07 4.98159e-07 1 1 0 ASIC3 9311 broad.mit.edu 37 7 150746113 150746113 + Silent SNP G G A rs143167179 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.chr7:150746113G>A ENST00000357922.4 + 1 735 c.141G>A c.(139-141)gcG>gcA p.A47A ASIC3_ENST00000349064.5_Silent_p.A47A|ASIC3_ENST00000297512.8_Silent_p.A47A NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 47 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity TGTGGGCAGCGGCCGTGGTCC 0.662000 4 48 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 ENST00000409039.3 + 32 5583 c.5558G>T c.(5557-5559)tGt>tTt p.C1853F NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 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 3.99451e-17 4.75537e-17 1 1 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 ENST00000263205.7 + 2 173 c.104G>T c.(103-105)aGt>aTt p.S35I MED15_ENST00000382974.2_Missense_Mutation_p.S35I|MED15_ENST00000425759.2_5'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.S9I|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.S35I|MED15_ENST00000406969.1_Missense_Mutation_p.S9I NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 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 9.31168e-06 1.01214e-05 1 1 0 DYNC2LI1 51626 broad.mit.edu 37 2 44021826 44021826 + Missense_Mutation SNP T T A rs9309107 by1000genomes 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.chr2:44021826T>A ENST00000406852.3 + 6 641 c.551T>A c.(550-552)tTt>tAt p.F184Y DYNC2LI1_ENST00000260605.8_Intron|DYNC2LI1_ENST00000443170.3_Intron|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000489222.2_Intron|DYNC2LI1_ENST00000605786.1_Intron NM_015522.3 NP_056337.1 Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 0 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTAGTCCCATTTATAGTTAAT 0.343000 5 22 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 ENST00000491614.1 - 2 416 c.21G>A c.(19-21)acG>acA p.T7T NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Silent_p.T7T|NUDT5_ENST00000537776.1_Silent_p.T7T|NUDT5_ENST00000378940.3_Silent_p.T7T|NUDT5_ENST00000378927.3_Silent_p.T7T Q9UKK9 NUDT5_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 5 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 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 ENST00000389794.3 - 13 4787 c.4613A>G c.(4612-4614)cAt>cGt p.H1538R LYST_ENST00000389793.2_Missense_Mutation_p.H1538R|LYST_ENST00000536965.1_3'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 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 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 ENST00000339818.4 - 4 482 c.275T>C c.(274-276)cTg>cCg p.L92P C21orf2_ENST00000325223.7_Missense_Mutation_p.L92P|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000397956.3_Missense_Mutation_p.L92P|C21orf2_ENST00000496321.1_5'UTR NM_004928.2 NP_004919.1 O43822 CU002_HUMAN chromosome 21 open reading frame 2 92 endometrium(2) 2 Colorectal(79;0.0806) GGCCAGCCACAGCACCCGCAG 0.687000 3 11 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA 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.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 6 44 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 ENST00000389840.5 - 9 1364 c.1240T>A c.(1240-1242)Ttt>Att p.F414I DNAH17_ENST00000585328.1_Missense_Mutation_p.F414I dynein, axonemal, heavy chain 17 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 LINC00969 0 broad.mit.edu 37 3 195395399 195395399 + RNA SNP G G A rs62287990 by1000genomes 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.chr3:195395399G>A ENST00000445430.1 + 0 806 GGCTACGGGCGCACCTACTTG 0.607000 3 19 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 ENST00000333973.2 + 1 454 c.365G>A c.(364-366)cGc>cAc p.R122H NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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 SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 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.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 3 3 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - 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.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 13 30 --- --- --- --- 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 ENST00000265662.5 - 42 6548 c.6401delC c.(6400-6402)cgfs p.P2134fs ABCA2_ENST00000371605.3_Frame_Shift_Del_p.P2133fs|ABCA2_ENST00000341511.6_Frame_Shift_Del_p.P2134fs Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 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 --- --- --- --- PARP4 143 broad.mit.edu 37 13 25075948 25075963 + Frame_Shift_Del DEL CATTATCTAAGATTAT CATTATCTAAGATTAT - rs145033589 by1000genomes 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.chr13:25075948_25075963delCATTATCTAAGATTAT ENST00000381989.3 - 3 247_262 c.142_157delATAATCTTAGATAATG c.(142-159)ctfs p.IILDNA48fs NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 48 BRCT. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AGAACATCAGCATTATCTAAGATTATATGTGTGCAC 0.315 11 39 --- --- --- ---