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 LINC00969 0 broad.mit.edu 37 3 195410640 195410640 + RNA SNP T T C rs6583273 by1000genomes TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr3:195410640T>C ENST00000445430.1 + 0 1837 TTGATGAGTATGATCACTCCA 0.468000 3 21 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236157113 236157113 + Missense_Mutation SNP T T C rs146903405 byFrequency TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr1:236157113T>C ENST00000264187.6 - 13 2669 c.2587A>G c.(2587-2589)Aca>Gca p.T863A NID1_ENST00000366595.3_Missense_Mutation_p.T730A NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 863 Thyroglobulin type-1. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TGTGGGTCTGTCGCCCCCGCT 0.632000 5 42 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18647965 18647965 + Silent SNP T T C rs145973790 byFrequency TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr17:18647965T>C ENST00000308799.4 + 1 627 c.408T>C c.(406-408)taT>taC p.Y136Y FBXW10_ENST00000395667.1_Silent_p.Y136Y|FBXW10_ENST00000395665.4_Silent_p.Y136Y|FBXW10_ENST00000301938.4_Silent_p.Y136Y Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 136 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 AGGCGAATTATACTCTCTTAC 0.443000 7 83 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 59 0 0 1 0 0 MIER2 54531 broad.mit.edu 37 19 334487 334487 + Silent SNP C C T TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr19:334487C>T ENST00000264819.4 - 3 166 c.156G>A c.(154-156)caG>caA p.Q52Q MIER2_ENST00000592722.1_5'UTR NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 52 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACTGTAGTTCTGTGACAGGA 0.597000 21 86 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10265497 10265497 + Missense_Mutation SNP C C T TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr17:10265497C>T ENST00000418404.3 - 4 606 c.443G>A c.(442-444)cGc>cAc p.R148H MYH13_ENST00000252172.4_Missense_Mutation_p.R148H|MYH13_ENST00000570743.1_Missense_Mutation_p.R148H Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 148 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GGCCTCCTGGCGCTTTTTGCC 0.527000 63 121 0 0 1 0 0 SMARCD3 6604 broad.mit.edu 37 7 150936733 150936733 + Missense_Mutation SNP G G A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr7:150936733G>A ENST00000392811.2 - 12 1708 c.1234C>T c.(1234-1236)Cgc>Tgc p.R412C SMARCD3_ENST00000356800.2_Missense_Mutation_p.R412C|SMARCD3_ENST00000262188.8_Missense_Mutation_p.R425C NM_003078.3 NP_003069.2 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 425 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCTGGGAGCGGAGCAGGTCT 0.537000 15 112 0 0 1 0 0 SNX9 51429 broad.mit.edu 37 6 158342658 158342658 + Missense_Mutation SNP G G A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr6:158342658G>A ENST00000392185.3 + 10 1216 c.1045G>A c.(1045-1047)Gtt>Att p.V349I NM_016224.3 NP_057308.1 Q9Y5X1 SNX9_HUMAN sorting nexin 9 349 PX. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) AGAAAGTGAAGTTTTCCAGCA 0.428000 24 44 0 0 1 0 0 AC007255.7 0 broad.mit.edu 37 7 29690658 29690658 + RNA SNP A A C rs1728537 by1000genomes TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr7:29690658A>C ENST00000426767.1 - 0 663 NR_024278.1 AAAGGTCAGGAGAGCCCTAGG 0.527000 4 27 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42167045 42167045 + Missense_Mutation SNP T T G TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr3:42167045T>G ENST00000327628.5 + 2 625 c.225T>G c.(223-225)atT>atG p.I75M TRAK1_ENST00000487159.1_3'UTR NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 75 HAP1 N-terminal. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CACCTCTCATTTCTCCAGATG 0.463000 50 99 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39263731 39263731 + Silent SNP C C T rs41292755 byFrequency TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr13:39263731C>T ENST00000280481.7 + 1 2466 c.2250C>T c.(2248-2250)gaC>gaT p.D750D NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 750 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.D750E(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CAGACACAGACGAAAATCACC 0.527000 4 47 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19408022 19408022 + Missense_Mutation SNP A A G TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr12:19408022A>G ENST00000538714.1 + 5 359 c.355A>G c.(355-357)Ata>Gta p.I119V PLEKHA5_ENST00000309364.4_Missense_Mutation_p.I119V|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.I11V|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.I119V|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.I119V|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.I119V|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.I119V|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.I11V|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.I119V NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 119 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GGAACGGCCAATAAGTATGAT 0.358000 21 57 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4934540 4934540 + Silent SNP G G A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr16:4934540G>A ENST00000345988.2 - 22 4205 c.4116C>T c.(4114-4116)gcC>gcT p.A1372A PPL_ENST00000590782.2_Silent_p.A1370A NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1372 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 CGATGCTCTCGGCAAAGGCGC 0.677000 29 211 0 0 1 0 0 AC011537.3 0 broad.mit.edu 37 19 15871692 15871692 + RNA SNP G G A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr19:15871692G>A ENST00000595525.1 + 0 508 CYP4F24P_ENST00000587443.2_RNA GAGTTGAAGCGGAAGGGGTTG 0.577000 25 54 0 0 1 0 0 LILRB1 0 broad.mit.edu 37 19 55145098 55145098 + Missense_Mutation SNP G G A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr19:55145098G>A ENST00000396331.1 + 9 1628 c.1271G>A c.(1270-1272)gGg>gAg p.G424E LILRB1_ENST00000396327.3_Missense_Mutation_p.G424E|LILRB1_ENST00000396332.4_Missense_Mutation_p.G424E|LILRB1_ENST00000427581.2_Missense_Mutation_p.G460E|LILRB1_ENST00000396315.1_Missense_Mutation_p.G424E|LILRB1_ENST00000396321.2_Missense_Mutation_p.G424E|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Missense_Mutation_p.G424E|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.G424E|LILRB1_ENST00000434867.2_Missense_Mutation_p.G424E NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 424 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GGACCGTCTGGGGGCCCCAGC 0.612000 HNSCC(37;0.09) 13 8 0 0 1 0 0 LEMD1 93273 broad.mit.edu 37 1 205350961 205350961 + Missense_Mutation SNP G G A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr1:205350961G>A ENST00000367153.4 - 6 473 c.371C>T c.(370-372)aCc>aTc p.T124I LEMD1_ENST00000391936.2_Missense_Mutation_p.P77S|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367149.3_Missense_Mutation_p.P36S|LEMD1_ENST00000367152.1_Missense_Mutation_p.T83I|LEMD1_ENST00000367151.2_Missense_Mutation_p.T83I|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367154.1_Missense_Mutation_p.P77S NM_001199050.1 NP_001185979.1 Q68G75 LEMD1_HUMAN LEM domain containing 1 124 integral to membrane|nuclear envelope breast(1)|lung(2) 3 Breast(84;0.247) BRCA - Breast invasive adenocarcinoma(75;0.0938) TGTGATTCTGGTGCTTGGTGC 0.512000 54 108 0 0 1 0 0 UBA7 7318 broad.mit.edu 37 3 49847804 49847804 + Missense_Mutation SNP C C T rs115185290 byFrequency TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr3:49847804C>T ENST00000333486.3 - 13 1683 c.1525G>A c.(1525-1527)Gtg>Atg p.V509M NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 509 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AGCGGGATCACCTGTAAGTCT 0.582000 9 125 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94652132 94652132 + Frame_Shift_Del DEL G G - TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr1:94652132delG ENST00000260526.6 - 16 1885 c.1703delC c.(1702-1704)cafs p.P568fs ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 568 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TGGTGTTCGTGGAAGTTTTCG 0.378 22 118 --- --- --- --- CCDC74B-AS1 0 broad.mit.edu 37 2 130893081 130893081 + RNA DEL A A - TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr2:130893081delA ENST00000427638.1 + 0 542 NR_033903.1 actccatctcaaaaaaaaaaa 0.562 4 3 --- --- --- --- RASEF 158158 broad.mit.edu 37 9 85611935 85611936 + Frame_Shift_Ins INS - - A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr9:85611935_85611936insA ENST00000376447.3 - 14 2171_2172 c.1911_1912insT c.(1909-1914)gatgatfs p.D638fs NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 638 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 ACCTCAATCATATCTACCCATT 0.371 10 53 --- --- --- --- DDIT4 54541 broad.mit.edu 37 10 74034179 74034185 + Splice_Site DEL GGTGAGC GGTGAGC - TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr10:74034179_74034185delGGTGAGC ENST00000307365.3 + 2 406 c.205_splice c.e2+1 p.69_splice NM_019058.2 NP_061931.1 Q9NX09 DDIT4_HUMAN DNA-damage-inducible transcript 4 69 apoptosis cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1) 12 GCCGGAGGAAGGTGAGCGGTGGGCGGG 0.700 7 48 --- --- --- --- ABTB2 25841 broad.mit.edu 37 11 34184192 34184201 + Frame_Shift_Del DEL GGGCCTTGGT GGGCCTTGGT - TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr11:34184192_34184201delGGGCCTTGGT ENST00000435224.2 - 10 2564_2573 c.2140_2149delACCAAGGCCC c.(2140-2151)tafs p.TKAL714fs ABTB2_ENST00000298992.2_Frame_Shift_Del_p.TKAL528fs NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 528 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GCCTCCTGTAGGGCCTTGGTGCGGGTCCGG 0.662 12 52 --- --- --- --- A2ML1 144568 broad.mit.edu 37 12 8990110 8990111 + Frame_Shift_Del DEL GA GA - TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr12:8990110_8990111delGA ENST00000299698.7 + 8 983_984 c.803_804delGA c.(802-804)cfs p.R268fs NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 112 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TACTGGTATCGAGAGGTGGAAC 0.495 29 91 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138377 20138377 + RNA DEL A A - TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr14:20138377delA ENST00000548261.1 + 0 391 CAaaagaaagaaagaaagaaa 0.383 3 5 --- --- --- --- NPIPB1P 0 broad.mit.edu 37 18 11625378 11625379 + RNA INS - - A rs141097667 TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr18:11625378_11625379insA ENST00000547442.1 - 0 621 CTCTTCCCCCGAAAAATGACAA 0.401 6 8 --- --- --- --- CD209 30835 broad.mit.edu 37 19 7810420 7810420 + Frame_Shift_Del DEL C C - TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr19:7810420delC ENST00000315599.7 - 4 754 c.732delG c.(730-732)cafs p.Q244fs CD209_ENST00000354397.6_Frame_Shift_Del_p.Q244fs|CD209_ENST00000601951.1_Frame_Shift_Del_p.Q220fs|CD209_ENST00000593821.1_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000601256.1_Frame_Shift_Del_p.Q220fs|CD209_ENST00000301357.8_Frame_Shift_Del_p.Q108fs|CD209_ENST00000204801.8_Frame_Shift_Del_p.Q200fs|CD209_ENST00000315591.8_Frame_Shift_Del_p.Q220fs NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 244 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CAGCCTTCAGCTGGGTCAGCT 0.567 10 171 --- --- --- --- RP5-1043L13.1 0 broad.mit.edu 37 20 58883399 58883400 + RNA INS - - T rs149794923 by1000genomes TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr20:58883399_58883400insT ENST00000432910.1 + 0 332 NR_046099.1 ggaccgggaaacagatgcttac 0.569 2 4 --- --- --- ---