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 TLN2 83660 broad.mit.edu 37 15 62939636 62939636 + Missense_Mutation SNP A A G TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr15:62939636A>G ENST00000561311.1 + 3 357 c.127A>G c.(127-129)Act>Gct p.T43A TLN2_ENST00000306829.6_Missense_Mutation_p.T43A Q9Y4G6 TLN2_HUMAN talin 2 43 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TGAGGCACAAACTGGGCAAGG 0.483000 5 135 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082220 152082220 + Missense_Mutation SNP G G C rs113946258 TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr1:152082220G>C ENST00000368804.1 - 2 3472 c.3473C>G c.(3472-3474)cCg>cGg p.P1158R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1158 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCTTCTCCGGTTCCTCTCT 0.592000 4 45 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275983 186275983 + Missense_Mutation SNP C C A TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr1:186275983C>A ENST00000445192.2 + 7 1177 c.1132C>A c.(1132-1134)Ccc>Acc p.P378T PRG4_ENST00000367485.4_Missense_Mutation_p.P285T|PRG4_ENST00000367483.4_Missense_Mutation_p.P337T|PRG4_ENST00000367486.3_Missense_Mutation_p.P335T|PRG4_ENST00000367484.3_Missense_Mutation_p.P337T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 378 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCCCCAAGGAGCC 0.637000 5 141 5.9392e-07 7.7952e-07 1 1 0 TM9SF4 9777 broad.mit.edu 37 20 30729321 30729321 + Missense_Mutation SNP G G A TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr20:30729321G>A ENST00000217315.5 + 4 540 c.200G>A c.(199-201)cGg>cAg p.R67Q TM9SF4_ENST00000398022.2_Missense_Mutation_p.R84Q Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 84 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGAGGGGACCGGATTGTCAAC 0.547000 8 84 0 0 1 0 0 DHRS4 10901 broad.mit.edu 37 14 24424420 24424420 + Splice_Site SNP C C T TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr14:24424420C>T ENST00000313250.5 + 2 508 c.306_splice c.e2+1 p.T102_splice DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 102 T -> M (in Ref. 1; AAD02292). mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity p.T102M(4) central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CTGGTGGCCACGGTGAGCTGC 0.652000 3 22 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55362797 55362797 + Nonsense_Mutation SNP C C T TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr16:55362797C>T ENST00000290552.7 + 5 2239 c.907C>T c.(907-909)Cga>Tga p.R303* RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 303 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 TCGAGAGGGCCGATTGGAGCG 0.657000 5 71 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 4 29 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 3 36 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 436647 436647 + Missense_Mutation SNP C C T TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr4:436647C>T ENST00000338977.5 - 2 1621 c.1573G>A c.(1573-1575)Gcc>Acc p.A525T ZNF721_ENST00000511833.2_Missense_Mutation_p.A537T|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 TGTCTAAAGGCTTTGCCACAT 0.408000 4 56 0 0 1 0 0 TRBV6-7 28600 broad.mit.edu 37 7 142144058 142144058 + RNA SNP C C T TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr7:142144058C>T ENST00000390373.2 - 0 26 GAGAAAAGGCCACACAGCACA 0.602000 6 104 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39693060 39693060 + Silent SNP G G A TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr6:39693060G>A ENST00000287152.7 - 1 121 c.27C>T c.(25-27)ttC>ttT p.F9F KIF6_ENST00000373216.3_Silent_p.F9F|KIF6_ENST00000373215.3_Silent_p.F9F|KIF6_ENST00000538893.1_Silent_p.F9F NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 9 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TCACCCTCGCGAATATCTGGA 0.667000 8 272 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349878 100349878 + RNA SNP C C T TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr7:100349878C>T ENST00000542585.1 + 0 2298 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.P717L(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACCCACCATCCCC 0.507000 5 61 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 4 32 2.56e-06 2.98667e-06 1 1 0 NAAA 27163 broad.mit.edu 37 4 76862043 76862045 + In_Frame_Del DEL CAG CAG - TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr4:76862043_76862045delCAG ENST00000286733.4 - 1 159_161 c.58_60delCTG c.(58-60)del p.L20del NAAA_ENST00000507956.1_In_Frame_Del_p.L20del|NAAA_ENST00000507187.2_In_Frame_Del_p.L20del|NAAA_ENST00000399497.3_In_Frame_Del_p.L20del NM_014435.3 NP_055250.2 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase 20 lipid metabolic process lysosome hydrolase activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 11 CGGCCCCGGCCAGCAGCAGCAGC 0.764 2 4 --- --- --- --- CEP128 145508 broad.mit.edu 37 14 81251876 81251876 + Frame_Shift_Del DEL T T - TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr14:81251876delT ENST00000555265.1 - 15 1949 c.1574delA c.(1573-1575)agfs p.K525fs CEP128_ENST00000281129.3_Frame_Shift_Del_p.K525fs Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 525 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 CAATTCATCCTTTTCTTTTAA 0.353 2 4 --- --- --- --- AL901608.1 0 broad.mit.edu 37 14 106178298 106178302 + RNA DEL CAGCT CAGCT - rs141434480 by1000genomes TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr14:106178298_106178302delCAGCT ENST00000581070.1 - 0 27_31 cagcccagcccagctcagcccagct 0.688 2 4 --- --- --- --- SPTBN5 51332 broad.mit.edu 37 15 42145172 42145172 + Frame_Shift_Del DEL T T - TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr15:42145172delT ENST00000320955.6 - 60 10424 c.10197delA c.(10195-10197)gafs p.E3399fs NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3399 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCAGCCGCCCTTCCAGCTCCT 0.687 2 4 --- --- --- --- ARIH1 25820 broad.mit.edu 37 15 72767214 72767215 + In_Frame_Ins INS - - GGC TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr15:72767214_72767215insGGC ENST00000379887.4 + 1 548_549 c.234_235insGGC c.(232-237)gggcgg>ggGGCgcgg p.78_79GR>GAR RP11-1007O24.3_ENST00000565181.1_lincRNA NM_005744.3 NP_005735.2 Q9Y4X5 ARI1_HUMAN ariadne RBR E3 ubiquitin protein ligase 1 78 Gly-rich. ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 14 GGCCcggcggtggcggcggcgg 0.757 8 24 --- --- --- --- GSPT1 2935 broad.mit.edu 37 16 12009531 12009539 + In_Frame_Del DEL CCGCCGCCG CCGCCGCCG - TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr16:12009531_12009539delCCGCCGCCG ENST00000434724.2 - 1 238_246 c.39_47delCGGCGGCGG c.(37-48)ggg>gg p.GGGG13del AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000439887.2_In_Frame_Del_p.GGGG13del|GSPT1_ENST00000420576.2_Intron NM_001130006.1|NM_002094.3 NP_001123478.1|NP_002085.2 P15170 ERF3A_HUMAN G1 to S phase transition 1 40 G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation intracellular GTP binding|GTPase activity|protein binding|translation release factor activity breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 14 gctgctgctcccgccgccgccgccgccgc 0.780 3 5 --- --- --- --- LOC101927580 101927580 broad.mit.edu 37 16 60043133 60043134 + RNA DEL GT GT - rs72034533 TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chr16:60043133_60043134delGT ENST00000568279.1 + 0 173 gtatgtgtgcgtgtgtgtgtgt 0.450 4 2 --- --- --- --- ALG13 79868 broad.mit.edu 37 X 110988002 110988002 + Frame_Shift_Del DEL T T - TCGA-55-7816-01A-11D-2167-08 TCGA-55-7816-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46dedbbb-3d67-4f4f-b468-0ac908280f23 2521f54e-7377-426b-93a5-e0262e54f240 g.chrX:110988002delT ENST00000394780.3 + 24 2814 c.2802delT c.(2800-2802)ccfs p.P945fs ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 945 Pro-rich. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity p.P934P(4) endometrium(2)|lung(10)|skin(1) 13 caccacctcctcctcctcctc 0.567 2 4 --- --- --- ---