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 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 158 0 0 1 0 0 PTDSS2 81490 broad.mit.edu 37 11 488240 488240 + Silent SNP C C T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr11:488240C>T ENST00000308020.5 + 7 839 c.663C>T c.(661-663)agC>agT p.S221S NM_030783.1 NP_110410.1 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 221 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) TGATCATCAGCGTGATGTTCG 0.642000 15 24 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 55999650 55999650 + Missense_Mutation SNP C C T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr11:55999650C>T ENST00000313264.4 - 1 1087 c.1012G>A c.(1012-1014)Gac>Aac p.D338N NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 338 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TTCATTGAGTCTTTTACATCT 0.333000 19 23 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24842570 24842570 + Missense_Mutation SNP C C T rs144789611 TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr14:24842570C>T ENST00000413692.2 + 5 1886 c.1742C>T c.(1741-1743)gCg>gTg p.A581V NFATC4_ENST00000554966.1_Missense_Mutation_p.A531V|NFATC4_ENST00000554050.1_Missense_Mutation_p.A518V|NFATC4_ENST00000555590.1_Missense_Mutation_p.A531V|NFATC4_ENST00000553879.1_Missense_Mutation_p.A448V|NFATC4_ENST00000554344.1_Missense_Mutation_p.A448V|NFATC4_ENST00000422617.3_Missense_Mutation_p.A506V|NFATC4_ENST00000554473.1_Missense_Mutation_p.A53V|NFATC4_ENST00000554591.1_Missense_Mutation_p.A581V|NFATC4_ENST00000555167.1_Missense_Mutation_p.A53V|NFATC4_ENST00000424781.2_Missense_Mutation_p.A531V|NFATC4_ENST00000553708.1_Missense_Mutation_p.A518V|NFATC4_ENST00000539237.2_Missense_Mutation_p.A550V|NFATC4_ENST00000250373.4_Missense_Mutation_p.A518V|NFATC4_ENST00000557451.1_Missense_Mutation_p.A448V|NFATC4_ENST00000554661.1_Missense_Mutation_p.A448V|NFATC4_ENST00000556759.1_Missense_Mutation_p.A53V|NFATC4_ENST00000556279.1_Missense_Mutation_p.A550V|NFATC4_ENST00000556169.1_Missense_Mutation_p.A506V|NFATC4_ENST00000553469.1_Missense_Mutation_p.A550V|NFATC4_ENST00000555453.1_Missense_Mutation_p.A506V NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 518 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) AACAACATGGCGGCCAAGTAA 0.547000 10 8 0 0 1 0 0 SPATC1 375686 broad.mit.edu 37 8 145095490 145095490 + Missense_Mutation SNP C C T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr8:145095490C>T ENST00000377470.3 + 3 890 c.788C>T c.(787-789)cCc>cTc p.P263L SPATC1_ENST00000447830.2_Missense_Mutation_p.P263L NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 263 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACTGAGCCCCCCCAGTCGACC 0.617000 25 151 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 3 12 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130877893 130877893 + Missense_Mutation SNP G G A TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr2:130877893G>A ENST00000357462.5 - 1 289 c.196C>T c.(196-198)Cgc>Tgc p.R66C POTEF_ENST00000360967.5_Missense_Mutation_p.R66C|POTEF_ENST00000361163.4_Missense_Mutation_p.R66C|POTEF_ENST00000409914.2_Missense_Mutation_p.R66C A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 66 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 AAGCAGTGGCGGCACCACTTG 0.602000 4 233 0 0 1 0 0 NOXRED1 122945 broad.mit.edu 37 14 77873092 77873092 + Silent SNP T T C TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr14:77873092T>C ENST00000380835.2 - 4 823 c.657A>G c.(655-657)caA>caG p.Q219Q NOXRED1_ENST00000298358.3_Silent_p.Q219Q NM_001113475.2 NP_001106946.1 Q6NXP6 CN148_HUMAN NADP-dependent oxidoreductase domain containing 1 219 proline biosynthetic process binding|pyrroline-5-carboxylate reductase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 GACAGGTAGCTTGAAGAATCG 0.448000 18 22 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25005568 25005568 + Missense_Mutation SNP A A C TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr13:25005568A>C ENST00000381989.3 - 32 4898 c.4793T>G c.(4792-4794)cTt>cGt p.L1598R NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1598 Interaction with the major vault protein. 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) ATTTGTATTAAGATTTAATAT 0.289000 33 11 0 0 1 0 0 TMEM173 340061 broad.mit.edu 37 5 138860911 138860911 + Missense_Mutation SNP A A G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr5:138860911A>G ENST00000330794.4 - 4 577 c.244T>C c.(244-246)Tgg>Cgg p.W82R TMEM173_ENST00000511850.1_5'UTR NM_198282.2 NP_938023.1 Q86WV6 TM173_HUMAN transmembrane protein 173 82 activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACAGTCCTCCAGTAGCTGCCC 0.662000 22 10 0 0 1 0 0 KCNG2 26251 broad.mit.edu 37 18 77659210 77659210 + Silent SNP G G A TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr18:77659210G>A ENST00000316249.3 + 2 795 c.795G>A c.(793-795)tcG>tcA p.S265S KCNG2_ENST00000590307.1_3'UTR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 265 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) TCTACGTGTCGCTGCTGCTGG 0.697000 4 24 0 0 1 0 0 ORMDL2 29095 broad.mit.edu 37 12 56213133 56213133 + Translation_Start_Site SNP A A T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr12:56213133A>T ENST00000550836.1 + 0 77 ORMDL2_ENST00000552672.1_Missense_Mutation_p.Y27F|ORMDL2_ENST00000548974.1_Missense_Mutation_p.Y61F|ORMDL2_ENST00000243045.5_Missense_Mutation_p.Y61F|RP11-762I7.5_ENST00000546837.1_Intron|RP11-762I7.5_ENST00000552719.1_Intron Q53FV1 ORML2_HUMAN ORM1-like 2 (S. cerevisiae) ceramide metabolic process endoplasmic reticulum membrane|integral to membrane kidney(1)|lung(3) 4 CAGGCTACGTATGTCTTCCTT 0.488000 4 187 0 0 1 0 0 OR4S1 256148 broad.mit.edu 37 11 48328357 48328357 + Missense_Mutation SNP C C G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr11:48328357C>G ENST00000319988.1 + 1 583 c.583C>G c.(583-585)Ctc>Gtc p.L195V NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 CATGGTAGGTCTCATCGTGGT 0.448000 23 44 0 0 1 0 0 PTRF 284119 broad.mit.edu 37 17 40557304 40557304 + Missense_Mutation SNP G G T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr17:40557304G>T ENST00000357037.5 - 2 993 c.574C>A c.(574-576)Ccc>Acc p.P192T NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 192 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) TCCTCCTCGGGCCGCTCGCCC 0.647000 62 97 8.3131e-28 1.00184e-27 1 1 0 CCDC158 339965 broad.mit.edu 37 4 77305423 77305423 + Missense_Mutation SNP G G T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr4:77305423G>T ENST00000388914.3 - 5 696 c.544C>A c.(544-546)Cat>Aat p.H182N CCDC158_ENST00000434846.2_Missense_Mutation_p.H182N NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 182 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 ACTCCCTCATGACTAAGCATC 0.408000 26 46 3.01185e-09 3.29202e-09 1 1 0 BCRP7 100133163 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 3 47 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55593661 55593661 + Missense_Mutation SNP T T C rs121913513 TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr4:55593661T>C ENST00000288135.5 + 11 1824 c.1727T>C c.(1726-1728)cTt>cCt p.L576P NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 576 male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.L576P(63)|p.Y570_L576del(9)|p.L576del(6)|p.V560_L576del(4)|p.N564_L576del(2)|p.I571_L576del(2)|p.I563_L576del(2)|p.Q556_L576del(2)|p.Q575_P577>T(2)|p.N564_Y578del(2)|p.V569_L576del(1)|p.N567_L576>E(1)|p.E561_P577del(1)|p.N564_P577del(1)|p.V559_L576del(1)|p.I571_N587del(1)|p.V569_L576>G(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCAACACAACTTCCTTATGAT 0.408000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 491 24 0 0 1 0 0 WDR13 64743 broad.mit.edu 37 X 48458075 48458075 + Missense_Mutation SNP C C G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chrX:48458075C>G ENST00000218056.5 + 4 998 c.493C>G c.(493-495)Cat>Gat p.H165D WDR13_ENST00000492715.1_3'UTR NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 165 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 GGGCATGTATCATGTTTTTGA 0.597000 21 34 0 0 1 0 0 TUSC5 286753 broad.mit.edu 37 17 1198820 1198820 + Silent SNP C C T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr17:1198820C>T ENST00000333813.3 + 2 762 c.423C>T c.(421-423)ggC>ggT p.G141G NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 141 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ACGTGGACGGCGCCCGGAGGC 0.622000 70 81 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 5 79 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978230 247978230 + Missense_Mutation SNP C C T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr1:247978230C>T ENST00000357627.1 - 1 801 c.802G>A c.(802-804)Gat>Aat p.D268N NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 ATTACAGCATCCAAAATAGAA 0.423000 9 57 0 0 1 0 0 RDH5 5959 broad.mit.edu 37 12 56118106 56118106 + Splice_Site SNP A A G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr12:56118106A>G ENST00000257895.5 + 5 886 c.733_splice c.e5-1 p.Y245_splice RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Splice_Site_p.Y245_splice|RDH5_ENST00000547072.1_Splice_Site_p.Y148_splice NM_001199771.1|NM_002905.3 NP_001186700.1|NP_002896.2 Q92781 RDH1_HUMAN retinol dehydrogenase 5 (11-cis/9-cis) 245 response to stimulus|visual perception membrane binding|retinol dehydrogenase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1) 12 NADH(DB00157)|Vitamin A(DB00162) GGGGCTGCAGACCTGAAAATG 0.577000 OREG0021908 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 15 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233135047 233135047 + Missense_Mutation SNP G G A TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr1:233135047G>A ENST00000258229.8 - 31 5641 c.5407C>T c.(5407-5409)Cgc>Tgc p.R1803C PCNXL2_ENST00000344698.2_Missense_Mutation_p.R455C NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1803 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ATACTGCCGCGCTCCGGATTG 0.557000 3 18 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226378288 226378288 + Silent SNP C C T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr2:226378288C>T ENST00000272907.6 + 3 836 c.423C>T c.(421-423)ccC>ccT p.P141P NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 141 AACCACCACCCAAACCCAAGA 0.577000 15 4 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55968150 55968150 + Missense_Mutation SNP A A C TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr4:55968150A>C ENST00000263923.4 - 15 2475 c.2180T>G c.(2179-2181)gTg>gGg p.V727G NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 727 Ig-like C2-type 7. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTCCTTCCTCACTCTGCGGAT 0.453000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 38 36 0 0 1 0 0 LUC7L3 51747 broad.mit.edu 37 17 48822059 48822059 + Missense_Mutation SNP A A C TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr17:48822059A>C ENST00000505658.1 + 7 767 c.578A>C c.(577-579)gAa>gCa p.E193A LUC7L3_ENST00000240304.1_Missense_Mutation_p.E193A|LUC7L3_ENST00000393227.2_Missense_Mutation_p.E193A|LUC7L3_ENST00000544170.1_Missense_Mutation_p.E117A O95232 LC7L3_HUMAN LUC7-like 3 (S. cerevisiae) 193 apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 GAAGTTTGTGAAGTATGTGGA 0.373000 18 25 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170244647 170244647 + Missense_Mutation SNP G G T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr3:170244647G>T ENST00000231706.4 - 2 394 c.79C>A c.(79-81)Cta>Ata p.L27I CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 27 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TTGGTGCGTAGGATCCTGGAG 0.587000 6 9 0.00116845 0.00122038 1 1 0 DPYD 1806 broad.mit.edu 37 1 97771765 97771765 + Missense_Mutation SNP T T G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr1:97771765T>G ENST00000370192.3 - 17 2247 c.2147A>C c.(2146-2148)gAt>gCt p.D716A DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 716 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GCTCACAATATCAGTGACATT 0.458000 5 194 0 0 1 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131827 142131827 + RNA SNP A A G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr7:142131827A>G ENST00000390375.2 - 0 90 CCCAGGACTCACCTGCTCCCA 0.612000 15 57 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41548083 41548083 + Missense_Mutation SNP G G T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr8:41548083G>T ENST00000396942.1 - 32 3976 c.3893C>A c.(3892-3894)tCt>tAt p.S1298Y ANK1_ENST00000265709.8_Missense_Mutation_p.S1339Y|ANK1_ENST00000379758.2_Missense_Mutation_p.S1298Y|ANK1_ENST00000396945.1_Missense_Mutation_p.S1298Y|ANK1_ENST00000289734.7_Missense_Mutation_p.S1298Y|ANK1_ENST00000347528.4_Missense_Mutation_p.S1298Y|ANK1_ENST00000352337.4_Missense_Mutation_p.S1298Y P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1298 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CAGGTTCCCAGAGAGTTCTGC 0.562000 21 64 6.21321e-17 7.12246e-17 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25427798 25427798 + RNA SNP C C A TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr15:25427798C>A ENST00000424208.1 + 0 272 NR_003305.1 CTCCAGTTCCCTGGGTTTGAG 0.592000 4 1 0.00909568 0.00929341 1 1 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 5 76 0 0 1 0 0 FBXO33 254170 broad.mit.edu 37 14 39870734 39870734 + Missense_Mutation SNP G G T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr14:39870734G>T ENST00000298097.7 - 3 1379 c.1042C>A c.(1042-1044)Cac>Aac p.H348N FBXO33_ENST00000554190.1_Intron NM_203301.3 NP_976046.1 Q7Z6M2 FBX33_HUMAN F-box protein 33 348 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) AGAGACTTGTGCATTACAGAA 0.428000 23 47 1.55469e-16 1.73978e-16 1 1 0 KIAA0141 9812 broad.mit.edu 37 5 141316848 141316848 + Missense_Mutation SNP A A G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr5:141316848A>G ENST00000432126.2 + 11 1369 c.1235A>G c.(1234-1236)tAc>tGc p.Y412C KIAA0141_ENST00000194118.4_Missense_Mutation_p.Y412C NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 412 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGAGATGTTACCAGCAGTCA 0.557000 84 65 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373411 86373411 + Missense_Mutation SNP C C G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr12:86373411C>G ENST00000604798.1 - 8 2297 c.1093G>C c.(1093-1095)Gat>Cat p.D365H MGAT4C_ENST00000548651.1_Missense_Mutation_p.D365H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D365H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D365H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D394H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D365H Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 365 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 AAGTACTCATCAACACTACTG 0.353000 9 14 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39797463 39797463 + Missense_Mutation SNP G G T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr1:39797463G>T ENST00000564288.1 + 37 5980 c.5203G>T c.(5203-5205)Ggg>Tgg p.G1735W MACF1_ENST00000567887.1_Missense_Mutation_p.G1772W|MACF1_ENST00000372915.3_Missense_Mutation_p.G1740W|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G175W|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1740 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACAATTGGCAGGGGGGATGGT 0.493000 16 29 1.3612e-06 1.45401e-06 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152694294 152694294 + Nonsense_Mutation SNP C C A TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr6:152694294C>A ENST00000367255.5 - 59 9986 c.9385G>T c.(9385-9387)Gaa>Taa p.E3129* SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E3136*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E3168*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E3129*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E3136* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3129 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCAGAAGTTCCCCTTTAGAC 0.363000 HNSCC(10;0.0054) 56 11 1.86277e-20 2.18875e-20 1 1 0 FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 11 387 --- --- --- --- ADD3 120 broad.mit.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr10:111893350delA ENST00000277900.8 + 14 2364 c.1999delA c.(1999-2001)aafs p.K669fs ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 701 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GAAAAAGAACAAAAAAAAGGA 0.333 8 364 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 5 7 --- --- --- --- IL9RP3 729486 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 5 10 --- --- --- --- TBC1D17 79735 broad.mit.edu 37 19 50391745 50391745 + Frame_Shift_Del DEL C C - TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr19:50391745delC ENST00000221543.5 + 17 2110 c.1811delC c.(1810-1812)tgfs p.S604fs TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.S571fs NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 604 Pro-rich. intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CACAGCCCCTCGCCCACCGCC 0.736 2 4 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 3 4 --- --- --- ---