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 ZDHHC24 254359 broad.mit.edu 37 11 66307235 66307235 + Missense_Mutation SNP G G A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr11:66307235G>A ENST00000310442.3 - 3 854 c.620C>T c.(619-621)gCg>gTg p.A207V ZDHHC24_ENST00000526986.1_Intron NM_207340.1 NP_997223.1 Q6UX98 ZDH24_HUMAN zinc finger, DHHC-type containing 24 207 Leu-rich. integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1) 7 GCACAGCAGCGCACCCGCCAC 0.647000 3 20 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85636525 85636525 + Silent SNP C C A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr4:85636525C>A ENST00000322366.6 - 49 8243 c.7836G>T c.(7834-7836)gtG>gtT p.V2612V WDFY3_ENST00000295888.4_Silent_p.V2629V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2629 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGAAAACTTCCACAGCAATAG 0.318000 26 26 2.27525e-19 2.37867e-19 1 1 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 5 106 0 0 1 0 0 CYP2U1 113612 broad.mit.edu 37 4 108866589 108866589 + Silent SNP A A T TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr4:108866589A>T ENST00000332884.6 + 2 1229 c.954A>T c.(952-954)atA>atT p.I318I RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Silent_p.I109I NM_183075.2 NP_898898.1 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, polypeptide 1 318 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) AGGACTTCATAGACATGTACC 0.348000 4 51 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 5 43 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72398976 72398976 + Missense_Mutation SNP A A G rs147859349 TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr7:72398976A>G ENST00000395270.1 + 7 1322 c.281A>G c.(280-282)aAt>aGt p.N94S POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 359 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTGGTGGCCAATGGAGTCCCC 0.468000 5 144 0 0 1 0 0 MRI1 84245 broad.mit.edu 37 19 13879776 13879776 + Missense_Mutation SNP G G A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr19:13879776G>A ENST00000319545.8 + 5 779 c.722G>A c.(721-723)cGt>cAt p.R241H MRI1_ENST00000040663.6_Missense_Mutation_p.R288H NM_032285.2 NP_115661.1 Q9BV20 MTNA_HUMAN methylthioribose-1-phosphate isomerase 1 288 L-methionine salvage from methylthioadenosine cell projection|cytoplasm|nucleus identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 TGTGACCTCCGTCTGGAGACC 0.592000 17 13 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198950399 198950399 + Missense_Mutation SNP C C T TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr2:198950399C>T ENST00000428675.1 + 2 2556 c.2158C>T c.(2158-2160)Cct>Tct p.P720S PLCL1_ENST00000437704.2_Missense_Mutation_p.P622S NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 720 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TGGGGTGTCTCCTCTAGCTCT 0.448000 37 51 0 0 1 0 0 OMD 4958 broad.mit.edu 37 9 95179741 95179741 + Missense_Mutation SNP C C G TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr9:95179741C>G ENST00000375550.4 - 2 375 c.100G>C c.(100-102)Gag>Cag p.E34Q CENPP_ENST00000375587.3_Intron NM_005014.2 NP_005005.1 Q99983 OMD_HUMAN osteomodulin 34 cell adhesion proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2) 16 TCATCTGGCTCTTGGTCATAG 0.363000 T USP6 aneurysmal bone cysts 23 31 0 0 1 0 0 OR1J1 347168 broad.mit.edu 37 9 125239932 125239932 + Missense_Mutation SNP C C T TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr9:125239932C>T ENST00000259357.2 - 1 303 c.274G>A c.(274-276)Gtc>Atc p.V92I NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 TTGTAAAAGACGGCTAGGTGC 0.423000 30 52 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306616 2306616 + Nonsense_Mutation SNP G G T TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr4:2306616G>T ENST00000290974.2 - 8 1790 c.1451C>A c.(1450-1452)tCg>tAg p.S484* RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.S454*|ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.S414* NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 484 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 GTGCAGCCGCGAGTCCAGGCA 0.662000 3 57 1 1 1 1 0 TUBGCP6 85378 broad.mit.edu 37 22 50659143 50659143 + Silent SNP G G A rs143650291 TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr22:50659143G>A ENST00000439308.2 - 16 4137 c.3645C>T c.(3643-3645)caC>caT p.H1215H TUBGCP6_ENST00000248846.5_Silent_p.H1215H|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1215 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) ACACATGTCCGTGGGTGTTCC 0.622000 3 55 0 0 1 0 0 CSDE1 7812 broad.mit.edu 37 1 115267956 115267956 + Splice_Site SNP T T A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr1:115267956T>A ENST00000438362.2 - 15 2157 c.e15-2 CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000369530.1_Splice_Site NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGAACTCACTAAGGAGAAAG 0.403000 50 17 0 0 1 0 0 IFIT3 3437 broad.mit.edu 37 10 91099316 91099316 + Missense_Mutation SNP G G A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr10:91099316G>A ENST00000371818.4 + 2 1084 c.904G>A c.(904-906)Gga>Aga p.G302R LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G302R|LIPA_ENST00000487618.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 302 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 TGAAGCTAGTGGAAATAAAGA 0.413000 31 17 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139266690 139266690 + Missense_Mutation SNP T T C TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr6:139266690T>C ENST00000450536.2 - 3 996 c.422A>G c.(421-423)aAg>aGg p.K141R REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 141 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TACGGATCCCTTTTTCACTTG 0.478000 4 222 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19471512 19471512 + Missense_Mutation SNP G G A TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr22:19471512G>A ENST00000407835.1 + 6 726 c.470G>A c.(469-471)cGc>cAc p.R157H CDC45_ENST00000404724.3_Missense_Mutation_p.R111H|CDC45_ENST00000437685.2_Missense_Mutation_p.R157H|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_Missense_Mutation_p.R157H O75419 CDC45_HUMAN cell division cycle 45 157 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 TCTGAGAAGCGCACACGGTTA 0.532000 3 54 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 31 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 25 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131241096 131241096 + Frame_Shift_Del DEL G G - TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr7:131241096delG ENST00000541194.1 - 1 280 c.23delC c.(22-24)tgfs p.S8fs PODXL_ENST00000322985.9_Frame_Shift_Del_p.S8fs|PODXL_ENST00000537928.1_Frame_Shift_Del_p.S8fs|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_Frame_Shift_Del_p.S8fs NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 8 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) CAGCAGCGCCGAGAGCGCCAG 0.741 2 4 --- --- --- --- ALDH2 217 broad.mit.edu 37 12 112204841 112204843 + In_Frame_Del DEL GCC GCC - TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr12:112204841_112204843delGCC ENST00000261733.2 + 1 116_118 c.55_57delGCC c.(55-57)del p.A21del RP11-162P23.2_ENST00000546840.2_Intron|ALDH2_ENST00000416293.3_In_Frame_Del_p.A21del NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) 21 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) CCTCTTGTCAGCCGCCGCCACCC 0.734 T HMGA2 leiomyoma 2 4 --- --- --- --- ADCY4 196883 broad.mit.edu 37 14 24801744 24801744 + Frame_Shift_Del DEL G G - TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr14:24801744delG ENST00000310677.4 - 4 616 c.503delC c.(502-504)ctfs p.P168fs ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P168fs|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P168fs|RP11-934B9.3_ENST00000555591.1_Frame_Shift_Del_p.A234fs NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 168 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CAGCAGTGCAGGCCGTGAGTC 0.662 OREG0022624 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- GTF2A1 2957 broad.mit.edu 37 14 81646632 81646643 + In_Frame_Del DEL CATCCTTGAGAT CATCCTTGAGAT - TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr14:81646632_81646643delCATCCTTGAGAT ENST00000553612.1 - 9 1458_1469 c.1055_1066delATCTCAAGGATG c.(1054-1068)cgc>c p.HLKDG352del GTF2A1_ENST00000434192.2_In_Frame_Del_p.HLKDG313del NM_015859.3 NP_056943.1 P52655 TF2AA_HUMAN general transcription factor IIA, 1, 19/37kDa 352 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|transcription factor TFIIA complex DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(234;0.0287) TTCATAATGCCATCCTTGAGATGAAATTTCCA 0.274 24 111 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 3 6 --- --- --- --- MYO18A 399687 broad.mit.edu 37 17 27423926 27423927 + Frame_Shift_Ins INS - - C TCGA-WB-A80M-01A-11D-A35I-08 TCGA-WB-A80M-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbee6b0-22b5-4a22-a79d-88867205e64b 01134613-e4be-423c-8a3f-0c3307fcb112 g.chr17:27423926_27423927insC ENST00000527372.1 - 28 4417_4418 c.4237_4238insG c.(4237-4239)cctfs p.P1413fs MYO18A_ENST00000354329.4_Frame_Shift_Ins_p.P1413fs|MYO18A_ENST00000533112.1_Frame_Shift_Ins_p.P1413fs|MYO18A_ENST00000531253.1_Frame_Shift_Ins_p.P1413fs NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1413 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TGCCTGCAGGTCCCCGAGCTAG 0.589 2 4 --- --- --- ---