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 DSCR10 0 broad.mit.edu 37 21 39580548 39580548 + RNA SNP C C T TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr21:39580548C>T ENST00000432141.1 + 0 670 NR_027695.1 TGTGGGTTTGCCATCGAAGGA 0.413000 4 149 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84245658 84245658 + Silent SNP T T C TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr11:84245658T>C ENST00000398309.2 - 2 629 c.159A>G c.(157-159)gaA>gaG p.E53E DLG2_ENST00000376104.2_Silent_p.E158E|DLG2_ENST00000532653.1_Silent_p.E53E|DLG2_ENST00000524982.1_Silent_p.E53E|DLG2_ENST00000543673.1_Silent_p.E158E NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 53 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CATGGACATTTTCTATTTGAG 0.418000 4 81 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55572934 55572934 + Missense_Mutation SNP A A C TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr1:55572934A>C ENST00000294383.6 - 40 4739 c.4740T>G c.(4738-4740)tgT>tgG p.C1580W USP24_ENST00000407756.1_Missense_Mutation_p.C1420W NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1580 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 TTTCTGCCCCACAGAGTGAAA 0.453000 5 49 0 0 1 0 0 SLC6A6 6533 broad.mit.edu 37 3 14508027 14508027 + Missense_Mutation SNP G G A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr3:14508027G>A ENST00000454876.2 + 7 1065 c.736G>A c.(736-738)Gtc>Atc p.V246I SLC6A6_ENST00000360861.3_Missense_Mutation_p.V246I P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 246 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 CTTGCAGGTCGTCTACTTCAC 0.602000 8 49 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19715874 19715874 + Silent SNP T T C TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr21:19715874T>C ENST00000284885.3 - 12 1410 c.1377A>G c.(1375-1377)ggA>ggG p.G459G NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 459 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TCCAATTGTCTCCATAATTTC 0.294000 7 91 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42748856 42748856 + Nonsense_Mutation SNP G G A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr21:42748856G>A ENST00000330714.3 + 2 207 c.23G>A c.(22-24)tGg>tAg p.W8* MX2_ENST00000543692.1_Nonsense_Mutation_p.W8* NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 8 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) CACAAGCCTTGGCCCTACCGG 0.512000 4 51 0 0 1 0 0 RBM34 23029 broad.mit.edu 37 1 235295210 235295210 + Missense_Mutation SNP G G T TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr1:235295210G>T ENST00000408888.3 - 11 1341 c.1111C>A c.(1111-1113)Caa>Aaa p.Q371K RBM34_ENST00000366606.3_Missense_Mutation_p.Q366K|RBM34_ENST00000495224.1_5'UTR P42696 RBM34_HUMAN RNA binding motif protein 34 371 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) TTTGAATTTTGTTGTTTAAAT 0.328000 7 55 0.00448238 0.00458425 1 1 0 RALGAPB 57148 broad.mit.edu 37 20 37153536 37153536 + Missense_Mutation SNP G G A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr20:37153536G>A ENST00000262879.6 + 11 2019 c.1735G>A c.(1735-1737)Gat>Aat p.D579N RALGAPB_ENST00000397040.1_Missense_Mutation_p.D579N|RALGAPB_ENST00000397038.1_Missense_Mutation_p.D357N|RALGAPB_ENST00000397042.3_Missense_Mutation_p.D579N Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 579 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GAAAGGGATTGATGTTGTGGT 0.403000 24 130 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16945452 16945452 + RNA SNP C C T rs11260834 TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr1:16945452C>T ENST00000412962.1 - 0 2067 CTCCCTACGACGGCAGGCCTA 0.647000 4 64 0 0 1 0 0 FBP1 2203 broad.mit.edu 37 9 97365824 97365824 + Missense_Mutation SNP C C G TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr9:97365824C>G ENST00000415431.1 - 8 1085 c.856G>C c.(856-858)Gcc>Ccc p.A286P FBP1_ENST00000375326.4_Missense_Mutation_p.A286P NM_001127628.1 NP_001121100.1 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 286 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding kidney(1)|liver(1)|lung(1) 3 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) ATGACGTAGGCCATGGGGTTG 0.537000 OREG0019330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 28 0 0 1 0 0 PPP4C 5531 broad.mit.edu 37 16 30093814 30093814 + Missense_Mutation SNP G G A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr16:30093814G>A ENST00000279387.7 + 4 328 c.160G>A c.(160-162)Gac>Aac p.D54N PPP4C_ENST00000561610.1_Missense_Mutation_p.D54N NM_002720.1 NP_002711.1 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 54 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1) 9 GGTGTGCGGCGACATCCATGG 0.522000 6 62 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138641963 138641963 + Missense_Mutation SNP G G A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr9:138641963G>A ENST00000298480.5 + 3 348 c.274G>A c.(274-276)Gtc>Atc p.V92I KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000263604.3_Missense_Mutation_p.V73I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V92I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 92 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GGAGTTCTACGTCAACGAGAA 0.607000 4 45 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41192034 41192034 + Missense_Mutation SNP G G A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr15:41192034G>A ENST00000220509.5 + 4 1357 c.1018G>A c.(1018-1020)Gca>Aca p.A340T VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 340 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GCTGCTACTGGCAGACCGGGT 0.632000 4 63 0 0 1 0 0 CCP110 9738 broad.mit.edu 37 16 19547945 19547945 + Silent SNP T T G TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr16:19547945T>G ENST00000396212.2 + 5 1390 c.954T>G c.(952-954)gcT>gcG p.A318A CCP110_ENST00000396208.2_Silent_p.A318A|CCP110_ENST00000381396.5_Silent_p.A318A NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 318 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 CAGTTTTAGCTAGCTTTTCGA 0.393000 5 70 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118315007 118315007 + Missense_Mutation SNP G G A rs62623373 TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr10:118315007G>A ENST00000369221.2 + 8 827 c.799G>A c.(799-801)Gga>Aga p.G267R NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 267 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) GGACATAGACGGAATCTGGGA 0.398000 7 118 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 40988337 40988337 + Nonsense_Mutation SNP G G T TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chrX:40988337G>T ENST00000324545.7 + 3 814 c.181G>T c.(181-183)Gaa>Taa p.E61* USP9X_ENST00000378308.2_Nonsense_Mutation_p.E61* NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 61 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ACCACAGCTTGAAGATGAGGA 0.458000 6 27 8.12818e-05 8.50624e-05 1 1 0 VSTM2A 222008 broad.mit.edu 37 7 54617693 54617693 + Missense_Mutation SNP G G A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr7:54617693G>A ENST00000302287.3 + 4 870 c.464G>A c.(463-465)cGc>cAc p.R155H VSTM2A_ENST00000402613.3_Missense_Mutation_p.R155H|VSTM2A_ENST00000407838.3_Missense_Mutation_p.R155H|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R155H|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R154H Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 155 extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) AGCCATGCCCGCAGAATGCAG 0.582000 5 15 0 0 1 0 0 ZNF841 284371 broad.mit.edu 37 19 52569155 52569155 + Silent SNP T T C TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr19:52569155T>C ENST00000389534.4 - 7 2439 c.1980A>G c.(1978-1980)aaA>aaG p.K660K ZNF841_ENST00000594295.1_Silent_p.K660K|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Silent_p.K544K|ZNF432_ENST00000598446.1_Intron NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 544 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 GAGTATAGGCTTTGCCACAAT 0.413000 12 66 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3391659 3391659 + Missense_Mutation SNP C C T TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr2:3391659C>T ENST00000324266.5 + 2 460 c.265C>T c.(265-267)Cgg>Tgg p.R89W TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R89W NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 89 binding GGGCCGAGTGCGGGACGAAGC 0.711000 2 2 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057373 9057373 + Silent SNP A A G TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr19:9057373A>G ENST00000397910.4 - 3 30276 c.30073T>C c.(30073-30075)Ttg>Ctg p.L10025L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10027 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTAAGGACAACAGAGAAGAT 0.448000 9 30 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144930870 144930870 + Missense_Mutation SNP G G A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr1:144930870G>A ENST00000529945.1 - 1 1278 c.839C>T c.(838-840)cCg>cTg p.P280L PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.P280L|PDE4DIP_ENST00000530740.1_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCCATGCTGCGGAGCCTGATC 0.498000 T PDGFRB MPD 7 135 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30902775 30902775 + Missense_Mutation SNP C C A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr11:30902775C>A ENST00000597505.1 - 35 5153 c.5154G>T c.(5152-5154)caG>caT p.Q1718H P59894 DCDC1_HUMAN doublecortin domain containing 1 224 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CGTCCCAGGACTGAATTGGCT 0.498000 3 37 0.115264 0.115264 1 1 0 SVEP1 79987 broad.mit.edu 37 9 113231326 113231326 + Silent SNP G G A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr9:113231326G>A ENST00000401783.2 - 17 3390 c.3054C>T c.(3052-3054)tgC>tgT p.C1018C SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.C1018C|SVEP1_ENST00000374469.1_Silent_p.C995C NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1018 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ATCCGATCCGGCAGCTTTCAC 0.423000 3 47 0 0 1 0 0 THUMPD3 25917 broad.mit.edu 37 3 9426287 9426287 + Missense_Mutation SNP A A G TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr3:9426287A>G ENST00000345094.3 + 10 1773 c.1439A>G c.(1438-1440)tAc>tGc p.Y480C THUMPD3_ENST00000452837.2_Missense_Mutation_p.Y480C|THUMPD3_ENST00000515662.2_Missense_Mutation_p.Y480C|SETD5-AS1_ENST00000468186.1_RNA NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 480 methyltransferase activity|protein binding|RNA binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) GCTGCAGTTTACGTTCTGATA 0.433000 4 135 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95728927 95728927 + Silent SNP C C T TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr5:95728927C>T ENST00000311106.3 - 14 2277 c.2040G>A c.(2038-2040)ccG>ccA p.P680P PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.P633P|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 680 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTGCTTTGGCGGTGAGTTTT 0.532000 5 65 0 0 1 0 0 PSG8 0 broad.mit.edu 37 19 43258479 43258479 + Missense_Mutation SNP G G A rs146638942 by1000genomes TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr19:43258479G>A ENST00000306511.4 - 5 1346 c.1249C>T c.(1249-1251)Cgg>Tgg p.R417W PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Intron NM_182707.2 NP_874366.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 417 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) ACTGGGATCCGCTTACCAGAG 0.478000 5 185 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52896292 52896292 + Silent SNP C C T TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr18:52896292C>T ENST00000354452.3 - 18 2276 c.1665G>A c.(1663-1665)gaG>gaA p.E555E TCF4_ENST00000564999.1_Silent_p.E551E|TCF4_ENST00000540999.1_Silent_p.E527E|TCF4_ENST00000544241.2_Silent_p.E484E|TCF4_ENST00000537856.3_Silent_p.E421E|TCF4_ENST00000457482.3_Silent_p.E395E|TCF4_ENST00000564228.1_Silent_p.E480E|TCF4_ENST00000567880.1_Silent_p.E491E|TCF4_ENST00000356073.4_Silent_p.E551E|TCF4_ENST00000566279.1_Silent_p.E495E|TCF4_ENST00000543082.1_Silent_p.E509E|TCF4_ENST00000564403.2_Silent_p.E561E|TCF4_ENST00000561831.3_Silent_p.E391E|TCF4_ENST00000568673.1_Silent_p.E531E|TCF4_ENST00000565018.2_Silent_p.E555E|TCF4_ENST00000561992.1_Silent_p.E421E|TCF4_ENST00000398339.1_Silent_p.E657E|TCF4_ENST00000568740.1_Silent_p.E526E|TCF4_ENST00000537578.1_Silent_p.E531E|TCF4_ENST00000570287.2_Silent_p.E391E|TCF4_ENST00000570177.2_Silent_p.E421E|TCF4_ENST00000566286.1_Silent_p.E548E NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 551 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GTGTCAGGTCCTCATCGTCAT 0.493000 4 93 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167088583 167088583 + Missense_Mutation SNP T T C TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr1:167088583T>C ENST00000361200.2 + 5 701 c.535T>C c.(535-537)Tac>Cac p.Y179H DUSP27_ENST00000271385.5_Missense_Mutation_p.Y179H|DUSP27_ENST00000443333.1_Missense_Mutation_p.Y179H Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 179 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCCCGAATTCTACACTGGCCT 0.557000 5 36 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89990012 89990012 + Nonsense_Mutation SNP G G A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr5:89990012G>A ENST00000405460.2 + 33 7535 c.7439G>A c.(7438-7440)tGg>tAg p.W2480* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2480 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCAGACTTCTGGACCTACAGG 0.488000 3 28 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64967480 64967480 + Silent SNP C C T TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr15:64967480C>T ENST00000326648.3 + 4 2555 c.2427C>T c.(2425-2427)ggC>ggT p.G809G NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 809 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCATTGGAGGCAGTAGCCGCC 0.557000 4 67 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108434877 108434877 + Missense_Mutation SNP T T A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr10:108434877T>A ENST00000263054.6 - 14 1877 c.1870A>T c.(1870-1872)Agt>Tgt p.S624C SORCS1_ENST00000344440.6_Missense_Mutation_p.S624C|SORCS1_ENST00000369698.1_Missense_Mutation_p.S159C NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 624 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GATGTGAAACTGTATTTGCTC 0.388000 3 62 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057380 9057380 + Silent SNP A A T TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr19:9057380A>T ENST00000397910.4 - 3 30269 c.30066T>A c.(30064-30066)tcT>tcA p.S10022S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10024 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACAACAGAGAAGATGAAGAGC 0.438000 9 29 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2953048 2953048 + Silent SNP G G A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr7:2953048G>A ENST00000396946.4 - 22 3295 c.2892C>T c.(2890-2892)agC>agT p.S964S NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 964 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGCGTACCAGGCTGTAGGGGA 0.677000 Mis DLBCL 5 42 0 0 1 0 0 SIRPB2 284759 broad.mit.edu 37 20 1460495 1460495 + Missense_Mutation SNP G G A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr20:1460495G>A ENST00000359801.3 - 2 337 c.301C>T c.(301-303)Cgg>Tgg p.R101W SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 101 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TCTGATGTCCGTTGGATCATG 0.448000 7 49 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95514945 95514945 + RNA SNP C C T TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr2:95514945C>T ENST00000432432.2 - 0 712 NR_040113.1 AACTACTGTACCGTCTCAGCC 0.308000 4 204 0 0 1 0 0 OR8B8 26493 broad.mit.edu 37 11 124310141 124310141 + Missense_Mutation SNP C C T TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr11:124310141C>T ENST00000328064.2 - 1 913 c.841G>A c.(841-843)Gtg>Atg p.V281M NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ATGGGCACCACAGTGGTATAG 0.408000 8 77 0 0 1 0 0 RP11-526P5.2 0 broad.mit.edu 37 10 2561169 2561170 + RNA INS - - G TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr10:2561169_2561170insG ENST00000438753.1 + 0 207 aagaagaagaagGGGGGGGGAG 0.386 3 3 --- --- --- --- PDS5B 23047 broad.mit.edu 37 13 33344887 33344888 + Frame_Shift_Ins INS - - A TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr13:33344887_33344888insA ENST00000315596.10 + 33 4346_4347 c.4160_4161insA c.(4159-4161)caafs p.Q1387fs NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1387 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding p.N1390fs*4(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CCATCACAACCAAAAAAAAATG 0.337 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077919 32077920 + RNA INS - - T rs4026454 by1000genomes TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chr16:32077919_32077920insT ENST00000566806.1 - 0 499 GAAAACGGTTATTTTTTTGTTC 0.426 2 4 --- --- --- --- NHS 4810 broad.mit.edu 37 X 17750109 17750115 + Frame_Shift_Del DEL CCAACAG CCAACAG - TCGA-ZG-A9LU-01A-11D-A41K-08 TCGA-ZG-A9LU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbf7010e-343e-4a33-bf1f-91e5fa93eb6b c3644dc8-4a3a-4db5-868a-ac65f2772be0 g.chrX:17750109_17750115delCCAACAG ENST00000380060.3 + 8 4756_4762 c.4418_4424delCCAACAG c.(4417-4425)ccfs p.PNS1473fs NHS_ENST00000398097.3_Frame_Shift_Del_p.PNS1317fs NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1473 nucleus p.P1317P(1)|p.P1473P(1) breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GTGACAACCCCCAACAGCCAGAGGTCT 0.507 9 56 --- --- --- ---