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 RP11-24M17.5 0 broad.mit.edu 37 15 76074441 76074441 + RNA SNP A A T TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr15:76074441A>T ENST00000395215.3 + 0 620 CGAGCTGCAGAGAAGCGGTCC 0.557000 3 38 0 0 1 0 0 GSTA1 2938 broad.mit.edu 37 6 52658986 52658986 + Silent SNP T T C TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr6:52658986T>C ENST00000334575.5 - 5 506 c.351A>G c.(349-351)aaA>aaG p.K117K GSTA1_ENST00000493331.1_5'UTR NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 117 GST C-terminal. K -> Q (in dbSNP:rs1051757). glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) GCTTGGCATCTTTTTCCTCAG 0.398000 4 194 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 3 34 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 23 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149677492 149677492 + Missense_Mutation SNP G G T TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr5:149677492G>T ENST00000328668.7 - 2 1574 c.995C>A c.(994-996)cCc>cAc p.P332H NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 332 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTTGAGCAGGGGACTGTGGAC 0.637000 7 31 3.09899e-07 3.09899e-07 1 1 0 SF3A3 10946 broad.mit.edu 37 1 38455621 38455621 + Missense_Mutation SNP T T C TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr1:38455621T>C ENST00000373019.4 - 1 972 c.17A>G c.(16-18)gAg>gGg p.E6G SF3A3_ENST00000448721.2_Missense_Mutation_p.E6G NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 6 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCGCTGCTGCTCCAGTATTGT 0.592000 OREG0013386 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 63 0 0 1 0 0 ARNTL 406 broad.mit.edu 37 11 13402802 13402802 + Splice_Site SNP G G A TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr11:13402802G>A ENST00000389708.3 + 18 2067 c.e18+1 ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000403482.3_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000403290.1_Splice_Site O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear translocator-like circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) AGGCAAGAAGGTAAGACTGAT 0.502000 3 37 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46607406 46607406 + Missense_Mutation SNP A A G TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr2:46607406A>G ENST00000263734.3 + 12 2105 c.1595A>G c.(1594-1596)tAt>tGt p.Y532C NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 532 NTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CTGGCACCCTATATCCCCATG 0.587000 75 10 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274214 39274214 + Missense_Mutation SNP G G C TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr17:39274214G>C ENST00000391413.2 - 1 392 c.354C>G c.(352-354)agC>agG p.S118R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 118 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gtctgcagcagctggacacac 0.652000 3 28 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70854156 70854156 + Splice_Site SNP G G A TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr6:70854156G>A ENST00000322773.4 + 24 1782 c.e24+1 COL19A1_ENST00000393344.1_Splice_Site NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 AGGAGAAAAGGTATAGTTTAC 0.398000 41 60 0 0 1 0 0 EPS8 2059 broad.mit.edu 37 12 15800190 15800190 + Missense_Mutation SNP G G C TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr12:15800190G>C ENST00000281172.5 - 15 1875 c.1439C>G c.(1438-1440)tCc>tGc p.S480C EPS8_ENST00000542903.1_Missense_Mutation_p.S220C|EPS8_ENST00000540613.1_Missense_Mutation_p.S220C|EPS8_ENST00000543612.1_Missense_Mutation_p.S480C|EPS8_ENST00000543523.1_Missense_Mutation_p.S480C NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 480 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TGATACACTGGAATGCTGAAA 0.428000 15 43 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32845169 32845169 + Missense_Mutation SNP C C T TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr19:32845169C>T ENST00000311921.3 + 2 1625 c.1433C>T c.(1432-1434)gCc>gTc p.A478V ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.A478V|ZNF507_ENST00000544431.1_Missense_Mutation_p.A478V NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 478 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) GATGAGAATGCCCCACCAGGC 0.448000 3 45 0 0 1 0 0 FAM159A 348378 broad.mit.edu 37 1 53108560 53108560 + Missense_Mutation SNP G G A TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr1:53108560G>A ENST00000517870.1 + 2 358 c.208G>A c.(208-210)Gta>Ata p.V70I FAM159A_ENST00000401050.3_3'UTR NM_001042693.1 NP_001036158.1 Q6UWV7 F159A_HUMAN family with sequence similarity 159, member A 70 integral to membrane endometrium(3)|lung(6)|upper_aerodigestive_tract(1) 10 AGGCCTGTCCGTAGCAGCAGT 0.522000 4 115 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 34 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63220752 63220752 + Missense_Mutation SNP G G A TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr2:63220752G>A ENST00000263991.5 + 19 3516 c.3034G>A c.(3034-3036)Gtc>Atc p.V1012I EHBP1_ENST00000405289.1_Missense_Mutation_p.V977I|EHBP1_ENST00000354487.3_Missense_Mutation_p.V977I|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.V941I|EHBP1_ENST00000431489.1_Missense_Mutation_p.V941I NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 1012 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) AGATTCTACAGTCAGAAAAAC 0.338000 8 42 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101559400 101559400 + Silent SNP A A G TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr7:101559400A>G ENST00000360264.3 + 2 89 c.69A>G c.(67-69)gaA>gaG p.E23E CUX1_ENST00000546411.2_Silent_p.E12E|CUX1_ENST00000437600.4_Silent_p.E23E|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.E23E|CUX1_ENST00000292535.7_Silent_p.E12E|CUX1_ENST00000550008.2_Silent_p.E12E|CUX1_ENST00000292538.4_Silent_p.E23E|CUX1_ENST00000549414.2_Silent_p.E12E|CUX1_ENST00000425244.2_Silent_p.E23E|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Silent_p.E12E NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 12 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AACAGAGAGAACTCGATGCCA 0.502000 9 121 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45695987 45695995 + In_Frame_Del DEL CCGCCGCCA CCGCCGCCA - rs56064803 byFrequency TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr5:45695987_45695995delCCGCCGCCA ENST00000303230.4 - 1 258_266 c.201_209delTGGCGGCGG c.(199-210)ggc>gg p.GGGG71del NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 71 Gly-rich. integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.G72_G74delGGG(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 gccgccgccgccgccgccaccgccgccac 0.770 6 7 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88512304 88512305 + Frame_Shift_Ins INS - - T rs77980773 TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr12:88512304_88512305insT ENST00000552810.1 - 17 2009_2010 c.1666_1667insA c.(1666-1668)tcgfs p.S556fs CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.S558fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 556 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.I558fs*20(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CATTTGACGAATTTTTTTTTTC 0.312 2 4 --- --- --- --- SEZ6L2 26470 broad.mit.edu 37 16 29908335 29908335 + Frame_Shift_Del DEL C C - TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr16:29908335delC ENST00000308713.5 - 3 846 c.319delG c.(319-321)tcfs p.V107fs SEZ6L2_ENST00000537485.1_Frame_Shift_Del_p.V63fs|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000346932.5_Frame_Shift_Del_p.V107fs|SEZ6L2_ENST00000562159.1_5'UTR NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 107 Pro-rich. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTAGGGGTGACGGCTGTTGTC 0.736 2 4 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-SR-A6MV-01A-11D-A35I-08 TCGA-SR-A6MV-10D-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60e6543-bc1d-4fb9-9149-548b39eb42fd 4180fbb4-7ea0-44cd-bb1e-b0899579ad93 g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 7 130 --- --- --- ---