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 PCDHA8 0 broad.mit.edu 37 5 140222517 140222517 + Silent SNP G G A TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr5:140222517G>A ENST00000531613.1 + 1 1611 c.1611G>A c.(1609-1611)gcG>gcA p.A537A PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.A537A|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGAGCGCGCGCGACGCGG 0.667000 12 128 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56058345 56058345 + Missense_Mutation SNP T T G TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr11:56058345T>G ENST00000313022.2 - 1 221 c.194A>C c.(193-195)cAc>cCc p.H65P NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) AAATGACAAGTGAGTAAGGAA 0.423000 21 328 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66321555 66321555 + RNA SNP T T A TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr11:66321555T>A ENST00000513398.1 + 0 519 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 CTGGGCATGATCTGGACCATC 0.567000 5 43 0 0 1 0 0 CLPB 81570 broad.mit.edu 37 11 72040797 72040797 + Missense_Mutation SNP G G A TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr11:72040797G>A ENST00000294053.3 - 7 1090 c.917C>T c.(916-918)gCc>gTc p.A306V CLPB_ENST00000340729.5_Missense_Mutation_p.A247V|CLPB_ENST00000437826.2_Missense_Mutation_p.A261V|CLPB_ENST00000543042.1_Missense_Mutation_p.A105V|CLPB_ENST00000538039.1_Missense_Mutation_p.A276V NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 306 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 CCCTTCTCGGGCATAATCCAA 0.512000 3 49 0 0 1 0 0 ASPHD1 253982 broad.mit.edu 37 16 29913067 29913067 + Missense_Mutation SNP C C T TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr16:29913067C>T ENST00000308748.5 + 1 1027 c.775C>T c.(775-777)Cgg>Tgg p.R259W ASPHD1_ENST00000483405.1_5'UTR NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 259 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 CCAAGCAGGCCGGTGCCAACC 0.672000 4 18 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4933905 4933905 + Missense_Mutation SNP G G A TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr16:4933905G>A ENST00000345988.2 - 22 4840 c.4751C>T c.(4750-4752)tCg>tTg p.S1584L PPL_ENST00000590782.2_Missense_Mutation_p.S1582L NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1584 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GTTGATTTCCGATTGGAGCCT 0.542000 11 110 0 0 1 0 0 FOSB 2354 broad.mit.edu 37 19 45974106 45974106 + Missense_Mutation SNP G G A rs143780767 TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr19:45974106G>A ENST00000353609.3 + 2 938 c.346G>A c.(346-348)Gga>Aga p.G116R FOSB_ENST00000586615.1_Missense_Mutation_p.G67R|FOSB_ENST00000585836.1_Missense_Mutation_p.G77R|FOSB_ENST00000443841.2_Intron|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.G116R|FOSB_ENST00000592811.1_Missense_Mutation_p.G67R|FOSB_ENST00000590335.1_Missense_Mutation_p.G116R|FOSB_ENST00000417353.2_Missense_Mutation_p.G116R|FOSB_ENST00000591858.1_Missense_Mutation_p.G77R NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 116 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) CAGCAGTGGCGGAGCGAGTGG 0.701000 9 100 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 74 0 0 1 0 0 ANGPTL7 10218 broad.mit.edu 37 1 11254545 11254545 + Missense_Mutation SNP G G A TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr1:11254545G>A ENST00000376819.3 + 4 939 c.700G>A c.(700-702)Gag>Aag p.E234K ANGPTL7_ENST00000476934.1_Intron|MTOR_ENST00000361445.4_Intron NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 234 Fibrinogen C-terminal. response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) GCGCTACGCTGAGTATAGCCA 0.522000 7 143 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5968436 5968436 + Missense_Mutation SNP T T A TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr9:5968436T>A ENST00000399933.3 - 3 1794 c.1795A>T c.(1795-1797)Act>Tct p.T599S KIAA2026_ENST00000381461.2_Missense_Mutation_p.T599S NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 599 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CCAAAGCCAGTAACTTCCCCT 0.363000 7 130 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A rs2781608 by1000genomes TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr1:17272075G>A ENST00000375541.5 + 15 2179 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 704 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A704T(11) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGCCGAGAAGGCCGAGGTGGC 0.657000 3 27 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10532037 10532037 + Missense_Mutation SNP G G A TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr16:10532037G>A ENST00000396560.2 + 5 1267 c.1040G>A c.(1039-1041)cGc>cAc p.R347H ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 TTGAACCAACGCATTGGGAAG 0.333000 10 106 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406859 75406859 + Missense_Mutation SNP G G A TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr10:75406859G>A ENST00000394810.2 - 4 2700 c.2551C>T c.(2551-2553)Cgg>Tgg p.R851W SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 851 Pro-rich. cytoplasm|cytoskeleton actin binding p.R627W(2)|p.R851W(1) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) GGCTGATGCCGCATAAAATCT 0.577000 5 113 0 0 1 0 0 DDX43 55510 broad.mit.edu 37 6 74115421 74115421 + Nonstop_Mutation SNP A A T TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr6:74115421A>T ENST00000539829.1 + 5 641 c.588A>T c.(586-588)taA>taT p.*196Y DDX43_ENST00000370336.4_Missense_Mutation_p.T224S Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 0 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TTTTAATATAACGTGGGATGA 0.398000 5 56 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98736173 98736173 + Silent SNP A A G TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr2:98736173A>G ENST00000477737.1 + 4 693 c.489A>G c.(487-489)ctA>ctG p.L163L VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.L163L NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 163 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GAGAGGCTCTAACAATGGTTC 0.483000 12 176 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45126660 45126660 + RNA SNP C C T TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr17:45126660C>T ENST00000575173.1 - 0 418 GACTGTTGAGCCGGAGGAGCC 0.488000 15 165 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80638492 80638492 + Splice_Site SNP T T C TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr5:80638492T>C ENST00000307624.3 - 11 1155 c.1128_splice c.e11+1 p.K376_splice ACOT12_ENST00000508234.1_Intron NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 376 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) GTGTCCTACCTTTTCCACAGT 0.468000 10 115 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47754580 47754580 + Silent SNP G G A rs140511264 TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr21:47754580G>A ENST00000359568.5 + 3 644 c.537G>A c.(535-537)ccG>ccA p.P179P PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 179 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.P179P(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) ACCACCAACCGGAACAGCGTG 0.537000 4 65 0 0 1 0 0 GATC 283459 broad.mit.edu 37 12 120897761 120897761 + Nonstop_Mutation SNP G G C TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr12:120897761G>C ENST00000551765.1 + 4 453 c.410G>C c.(409-411)tGa>tCa p.*137S AL021546.6_ENST00000551806.1_Nonstop_Mutation_p.*168L NM_176818.2 NP_789788.1 O43716 GATCL_HUMAN glutamyl-tRNA(Gln) amidotransferase, subunit C 0 regulation of translational fidelity breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCACACAGCTGAGTAGCTCAT 0.368000 5 58 0 0 1 0 0 C11orf74 119710 broad.mit.edu 37 11 36680674 36680674 + Missense_Mutation SNP G G C TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr11:36680674G>C ENST00000334307.5 + 6 719 c.604G>C c.(604-606)Gag>Cag p.E202Q C11orf74_ENST00000534635.1_Missense_Mutation_p.E128Q|C11orf74_ENST00000347206.4_Missense_Mutation_p.E128Q|C11orf74_ENST00000446510.2_Intron NM_138787.2 NP_620142.2 Q86VG3 CK074_HUMAN chromosome 11 open reading frame 74 202 breast(1)|kidney(1)|large_intestine(1)|lung(5) 8 all_lung(20;0.226) all_hematologic(20;0.0118) GAACATCAAAGAGCTATGCAA 0.393000 4 75 0 0 1 0 0 LAT 0 broad.mit.edu 37 16 28997053 28997053 + Silent SNP C C G TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr16:28997053C>G ENST00000395456.2 + 2 442 c.120C>G c.(118-120)tcC>tcG p.S40S LAT_ENST00000395461.3_Silent_p.S76S|LAT_ENST00000360872.5_Silent_p.S40S|LAT_ENST00000354453.4_Silent_p.S40S|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000454369.2_Silent_p.S40S|LAT_ENST00000564277.1_Silent_p.S40S|LAT_ENST00000566177.1_Silent_p.S40S|RP11-264B17.3_ENST00000569969.1_RNA NM_001014987.1|NM_001014988.1|NM_014387.3 NP_001014987.1|NP_001014988.1|NP_055202.1 O43561 LAT_HUMAN linker for activation of T cells 40 calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity large_intestine(2)|lung(3)|urinary_tract(1) 6 Hepatocellular(780;0.244) ACAGCACATCCTCAGATAGGT 0.657000 12 212 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149502718 149502718 + Silent SNP C C T TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr5:149502718C>T ENST00000261799.4 - 15 2539 c.2070G>A c.(2068-2070)gtG>gtA p.V690V NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 690 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCAGGTAGTCCACCAGGTCTC 0.622000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 5 71 0 0 1 0 0 ETS1 2113 broad.mit.edu 37 11 128426243 128426243 + Missense_Mutation SNP A A G TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr11:128426243A>G ENST00000392668.3 - 3 225 c.157T>C c.(157-159)Ttt>Ctt p.F53L ETS1_ENST00000525404.1_5'UTR NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 151 PNT. cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) TCATCCCAAAAGGGGTAGCAA 0.448000 3 64 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614554 247614554 + Missense_Mutation SNP G G A rs141064927 by1000genomes TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr1:247614554G>A ENST00000318749.6 - 1 754 c.731C>T c.(730-732)aCg>aTg p.T244M NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GGAGGAACACGTCCCAAAGGC 0.552000 8 85 0 0 1 0 0 PGS1 9489 broad.mit.edu 37 17 76394348 76394348 + Missense_Mutation SNP A A G TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr17:76394348A>G ENST00000262764.6 + 4 453 c.427A>G c.(427-429)Agt>Ggt p.S143G PGS1_ENST00000329897.7_Missense_Mutation_p.S8G NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 143 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) CTGCCTGGAAAGTACTCTAGA 0.448000 14 205 0 0 1 0 0 SLC35C1 55343 broad.mit.edu 37 11 45827881 45827881 + Missense_Mutation SNP A A G TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr11:45827881A>G ENST00000314134.3 + 1 1925 c.529A>G c.(529-531)Atc>Gtc p.I177V SLC35C1_ENST00000456334.1_Missense_Mutation_p.I164V|SLC35C1_ENST00000442528.2_Missense_Mutation_p.I164V NM_018389.4 NP_060859.4 Q96A29 FUCT1_HUMAN solute carrier family 35 (GDP-fucose transporter), member C1 177 Golgi membrane|integral to membrane GDP-fucose transmembrane transporter activity endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GBM - Glioblastoma multiforme(35;0.227) CTGCGGTATCATCATCGGTGA 0.567000 4 26 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164724640 164724640 + Missense_Mutation SNP T T C TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr3:164724640T>C ENST00000264382.3 - 37 4432 c.4370A>G c.(4369-4371)aAt>aGt p.N1457S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1457 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCCATAGAGATTGTGAACATC 0.353000 HNSCC(35;0.089) 3 49 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100537662 100537662 + Silent SNP G G A TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr15:100537662G>A ENST00000268070.4 - 19 2829 c.2724C>T c.(2722-2724)ccC>ccT p.P908P NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 908 TSP type-1 3. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) ccgccggccgggggcccgggc 0.672000 3 27 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141767225 141767225 + Splice_Site SNP C C T rs7778384 by1000genomes TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr7:141767225C>T ENST00000475668.2 + 42 5058 c.5004_splice c.e42+1 p.R1668_splice MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1668 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCCTGGAGCGCGTGAGTATGG 0.592000 3 41 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 4 50 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 7 95 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 8 86 --- --- --- --- RP11-556I14.1 0 broad.mit.edu 37 4 105918245 105918246 + RNA DEL CC CC - rs145057012 by1000genomes TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr4:105918245_105918246delCC ENST00000506386.1 + 0 71 ctttttttttcctttttttttt 0.312 4 4 --- --- --- --- BOD1 91272 broad.mit.edu 37 5 173043417 173043419 + In_Frame_Del DEL CCG CCG - TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chr5:173043417_173043419delCCG ENST00000311086.4 - 1 244_246 c.21_23delCGG c.(19-24)ggg>gg p.GG7del BOD1_ENST00000480951.1_In_Frame_Del_p.GG7del|BOD1_ENST00000471339.1_5'UTR|BOD1_ENST00000285908.5_In_Frame_Del_p.GG7del NM_138369.2 NP_612378.1 Q96IK1 BOD1_HUMAN biorientation of chromosomes in cell division 1 7 Gly-rich. cell division|mitosis condensed chromosome kinetochore|microtubule organizing center endometrium(1)|large_intestine(2)|lung(2)|ovary(2) 7 GCCAGTTCCCCCGCCGCCGCCGC 0.714 2 4 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70465642 70465642 + Frame_Shift_Del DEL A A - TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chrX:70465642delA ENST00000373998.1 - 17 3397 c.2700delT c.(2698-2700)atfs p.I900fs ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.I912fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.I914fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.I914fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.I912fs NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 912 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TGGTCTCTACAATCTTGTCTG 0.532 8 26 --- --- --- --- AMOT 154796 broad.mit.edu 37 X 112022477 112022479 + In_Frame_Del DEL CAG CAG - TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 323679ff-5644-4826-9486-a60ba6b0431f cf3e0850-c21c-4739-8085-7e278dded3cc g.chrX:112022477_112022479delCAG ENST00000371959.3 - 10 2902_2904 c.2903_2905delCTG c.(2902-2907)gtt>g p.AV968del AMOT_ENST00000524145.1_In_Frame_Del_p.AV968del|AMOT_ENST00000304758.1_In_Frame_Del_p.AV559del|AMOT_ENST00000371962.1_In_Frame_Del_p.AV736del NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 968 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GCAACCTGAAcagcagcagcagc 0.616 2 4 --- --- --- ---