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 EFCAB7 84455 broad.mit.edu 37 1 64022884 64022884 + Silent SNP G G A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr1:64022884G>A ENST00000371088.4 + 10 1560 c.1314G>A c.(1312-1314)gaG>gaA p.E438E EFCAB7_ENST00000461039.1_3'UTR NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 438 EF-hand 3. calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 CAAGTGGTGAGAAATGTGATG 0.318 3 37 --- --- --- --- KPRP 448834 broad.mit.edu 37 1 152733398 152733398 + Missense_Mutation SNP G G A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr1:152733398G>A ENST00000368773.1 + 2 1392 c.1334G>A c.(1333-1335)cGg>cAg p.R445Q KPRP_ENST00000606109.1_Missense_Mutation_p.R445Q NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 445 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAACACCGCGGCCAGTTCCC 0.582 78 157 --- --- --- --- MIA3 375056 broad.mit.edu 37 1 222835673 222835673 + Splice_Site SNP A A G TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr1:222835673A>G ENST00000344922.5 + 26 5286 c.5261A>G c.(5260-5262)aAg>aGg p.K1754R MIA3_ENST00000344441.6_Splice_Site_p.K1754R|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Splice_Site_p.K632R NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1754 Pro-rich. K -> R (in Ref. 2; BAH12416). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GATGAAGGCAAGGTAAATGCA 0.428 4 236 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237754210 237754210 + Missense_Mutation SNP G G T TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr1:237754210G>T ENST00000366574.2 + 31 4395 c.4078G>T c.(4078-4080)Gac>Tac p.D1360Y RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1360 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CGATCGTGTTGACAAAGACAA 0.423 18 41 --- --- --- --- SOX11 6664 broad.mit.edu 37 2 5833182 5833182 + Missense_Mutation SNP T T A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr2:5833182T>A ENST00000322002.3 + 1 384 c.329T>A c.(328-330)aTg>aAg p.M110K NM_003108.3 NP_003099.1 P35716 SOX11_HUMAN SRY (sex determining region Y)-box 11 110 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) CTCAAGCACATGGCCGACTAC 0.642 3 45 --- --- --- --- MRPL19 9801 broad.mit.edu 37 2 75879653 75879653 + Silent SNP T T C TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr2:75879653T>C ENST00000393909.2 + 4 370 c.345T>C c.(343-345)agT>agC p.S115S MRPL19_ENST00000409374.1_Silent_p.S115S|MRPL19_ENST00000358788.6_Silent_p.S115S NM_014763.3 NP_055578.2 P49406 RM19_HUMAN mitochondrial ribosomal protein L19 115 translation mitochondrion|nuclear membrane|ribosome structural constituent of ribosome kidney(1)|large_intestine(1)|lung(6) 8 TTGTAGGAAGTATTCTTCGTG 0.383 62 61 --- --- --- --- CXCR2 3579 broad.mit.edu 37 2 218999837 218999837 + Missense_Mutation SNP G G C TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr2:218999837G>C ENST00000318507.2 + 3 740 c.313G>C c.(313-315)Gcc>Ccc p.A105P NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 105 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 GCCCATCTGGGCCGCCTCCAA 0.552 52 86 --- --- --- --- IGSF10 285313 broad.mit.edu 37 3 151163868 151163868 + Missense_Mutation SNP T T C TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr3:151163868T>C ENST00000282466.3 - 4 3900 c.3901A>G c.(3901-3903)Att>Gtt p.I1301V NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1301 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGCTTATAATACTAGGAAGC 0.443 86 94 --- --- --- --- ENOPH1 58478 broad.mit.edu 37 4 83376002 83376002 + Missense_Mutation SNP C C A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr4:83376002C>A ENST00000273920.3 + 4 785 c.517C>A c.(517-519)Ctt>Att p.L173I ENOPH1_ENST00000509635.1_Missense_Mutation_p.L85I NM_021204.3 NP_067027.1 Q9UHY7 ENOPH_HUMAN enolase-phosphatase 1 173 L-methionine salvage from methylthioadenosine cytoplasm|nucleus 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1) 13 GGGAGATATTCTTGAGGTAGG 0.398 4 176 --- --- --- --- XRCC4 7518 broad.mit.edu 37 5 82499425 82499425 + Silent SNP G G T TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr5:82499425G>T ENST00000282268.3 + 5 712 c.537G>T c.(535-537)cgG>cgT p.R179R XRCC4_ENST00000396027.4_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000511817.1_Silent_p.R179R|XRCC4_ENST00000338635.6_Silent_p.R179R NM_003401.3|NM_022406.2|NM_022550.2 NP_003392.1|NP_071801.1|NP_072044.1 Q13426 XRCC4_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 4 179 DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm DNA binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3) 17 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) TTTATAAGCGGTTTATTCTGG 0.313 Non-homologous end-joining 10 83 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139887388 139887388 + Silent SNP T T A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr5:139887388T>A ENST00000297183.6 + 20 3694 c.3570T>A c.(3568-3570)ggT>ggA p.G1190G ANKHD1_ENST00000360839.2_Silent_p.G1190G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1190G NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAAACTAGGTATTTCTCCCC 0.368 6 111 --- --- --- --- C6orf62 81688 broad.mit.edu 37 6 24714586 24714586 + Missense_Mutation SNP G G C TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr6:24714586G>C ENST00000378119.4 - 3 2556 c.389C>G c.(388-390)tCt>tGt p.S130C C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C|C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C NM_030939.4 NP_112201.1 Q9GZU0 CF062_HUMAN chromosome 6 open reading frame 62 130 intracellular endometrium(2)|kidney(3)|large_intestine(2)|lung(3) 10 TTTCCACCTAGAAAACAGGAG 0.343 15 81 --- --- --- --- SCAF8 22828 broad.mit.edu 37 6 155054985 155054985 + Missense_Mutation SNP G G A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr6:155054985G>A ENST00000367186.4 + 2 93 c.86G>A c.(85-87)aGt>aAt p.S29N SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000367178.3_5'UTR|SCAF8_ENST00000417268.1_5'UTR Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 0 CID. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 ACCCAGTGCAGTGGCCGCCGC 0.726 3 17 --- --- --- --- FKBP9L 360132 broad.mit.edu 37 7 55752886 55752886 + RNA SNP G G A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr7:55752886G>A ENST00000455909.1 - 0 677 NR_027340.1|NR_027342.1 FK506 binding protein 9-like p.N77N(1) endometrium(1)|kidney(1)|lung(3) 5 GGACTTCTCCGTTGCCATCCT 0.557 3 54 --- --- --- --- HIP1 3092 broad.mit.edu 37 7 75192343 75192343 + Nonsense_Mutation SNP C C A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr7:75192343C>A ENST00000336926.6 - 11 942 c.916G>T c.(916-918)Gaa>Taa p.E306* HIP1_ENST00000434438.2_Nonsense_Mutation_p.E306* NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 306 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CTGATATGTTCTGACAGGGCT 0.582 T PDGFRB CMML 4 156 --- --- --- --- ACTL6B 51412 broad.mit.edu 37 7 100246363 100246363 + Missense_Mutation SNP A A T TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr7:100246363A>T ENST00000160382.5 - 6 657 c.551T>A c.(550-552)gTt>gAt p.V184D NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 184 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TTGCTGCAGAACGTAGCCGTC 0.627 5 86 --- --- --- --- FBXO16 157574 broad.mit.edu 37 8 28304698 28304698 + Missense_Mutation SNP G G A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr8:28304698G>A ENST00000380254.2 - 7 981 c.833C>T c.(832-834)gCa>gTa p.A278V FBXO16_ENST00000346498.2_Missense_Mutation_p.A266V|FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V NM_001258211.1|NM_172366.3 NP_001245140.1|NP_758954.1 Q8IX29 FBX16_HUMAN F-box protein 16 278 large_intestine(2)|ovary(1) 3 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) CATTGATTGTGCTTTTCTTAG 0.318 10 127 --- --- --- --- ACTL7B 10880 broad.mit.edu 37 9 111617256 111617256 + Missense_Mutation SNP T T C TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr9:111617256T>C ENST00000374667.3 - 1 1983 c.955A>G c.(955-957)Aca>Gca p.T319A NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 319 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CAGGCAGCTGTGAGCTCCGGG 0.652 15 62 --- --- --- --- PTGS1 5742 broad.mit.edu 37 9 125154663 125154663 + Missense_Mutation SNP G G A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr9:125154663G>A ENST00000362012.2 + 11 1645 c.1640G>A c.(1639-1641)aGc>aAc p.S547N PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N|PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2 NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 547 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TGGAAGCCGAGCACATTTGGC 0.527 9 138 --- --- --- --- ATM 472 broad.mit.edu 37 11 108164131 108164131 + Missense_Mutation SNP A A T TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr11:108164131A>T ENST00000278616.4 + 31 5088 c.4703A>T c.(4702-4704)cAt>cTt p.H1568L ATM_ENST00000452508.2_Missense_Mutation_p.H1568L NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1568 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTTCCTGACCATGTTGTTTTT 0.308 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 8 102 --- --- --- --- BUD13 84811 broad.mit.edu 37 11 116629027 116629027 + Missense_Mutation SNP T T C TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr11:116629027T>C ENST00000260210.4 - 7 1480 c.1457A>G c.(1456-1458)aAg>aGg p.K486R BUD13_ENST00000375445.3_Missense_Mutation_p.K352R NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 486 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) CTCTGAGTCCTTTTCTGCTTT 0.443 3 193 --- --- --- --- TRAFD1 10906 broad.mit.edu 37 12 112572542 112572542 + Splice_Site SNP C C A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr12:112572542C>A ENST00000257604.5 + 3 665 c.48C>A c.(46-48)tgC>tgA p.C16* TRAFD1_ENST00000412615.2_Splice_Site_p.C16* NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 16 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 ATTTCCGTAGCAAAAAAGAAA 0.393 4 105 --- --- --- --- SUPT16H 11198 broad.mit.edu 37 14 21829070 21829070 + Missense_Mutation SNP T T A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr14:21829070T>A ENST00000216297.2 - 17 2329 c.1991A>T c.(1990-1992)gAt>gTt p.D664V NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 664 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) AATGTATAGATCTTTCAGTTT 0.418 7 55 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23344794 23344794 + Missense_Mutation SNP T T C TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr14:23344794T>C ENST00000359591.4 + 5 1328 c.637T>C c.(637-639)Tca>Cca p.S213P LRP10_ENST00000546834.1_Missense_Mutation_p.S213P NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 213 CUB 2. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) ACACCTAGCCTCAGTCTCCCA 0.627 3 189 --- --- --- --- UBR1 197131 broad.mit.edu 37 15 43242542 43242542 + Missense_Mutation SNP C C G TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr15:43242542C>G ENST00000290650.4 - 46 5104 c.5026G>C c.(5026-5028)Gtc>Ctc p.V1676L UBR1_ENST00000382177.2_3'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 1676 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TCAACCAGGACCACTCGGCAT 0.403 4 94 --- --- --- --- ATP8B4 79895 broad.mit.edu 37 15 50212487 50212487 + Nonsense_Mutation SNP C C A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr15:50212487C>A ENST00000284509.6 - 18 2020 c.1879G>T c.(1879-1881)Gaa>Taa p.E627* ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E627* NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 627 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GCTATTCGTTCATCCCTCTCT 0.413 4 176 --- --- --- --- ZNF597 146434 broad.mit.edu 37 16 3487540 3487540 + Splice_Site SNP T T G TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr16:3487540T>G ENST00000301744.4 - 4 396 c.e4-2 NM_152457.1 NP_689670.1 Q96LX8 ZN597_HUMAN zinc finger protein 597 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 CTTCCTCTCCTGTTGATAAAA 0.418 13 31 --- --- --- --- TSNAXIP1 55815 broad.mit.edu 37 16 67859051 67859051 + Silent SNP G G T TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr16:67859051G>T ENST00000388833.3 + 7 905 c.528G>T c.(526-528)ctG>ctT p.L176L TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000415766.3_Silent_p.L161L|TSNAXIP1_ENST00000561639.1_Silent_p.L230L NM_018430.2 NP_060900.2 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 1 176 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) TGACCAAACTGAGGAAGAACT 0.607 5 72 --- --- --- --- TUSC5 286753 broad.mit.edu 37 17 1183623 1183623 + Missense_Mutation SNP G G A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr17:1183623G>A ENST00000333813.3 + 1 667 c.328G>A c.(328-330)Gtc>Atc p.V110I NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 110 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) CCTGGCCGTCGTCGCCTGCTT 0.632 10 127 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11535997 11535997 + Missense_Mutation SNP C C A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr17:11535997C>A ENST00000262442.4 + 8 1680 c.1612C>A c.(1612-1614)Cct>Act p.P538T DNAH9_ENST00000454412.2_Missense_Mutation_p.P538T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGATGATGCACCTGGCTTGGA 0.458 47 78 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37687433 37687433 + Missense_Mutation SNP G G A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr17:37687433G>A ENST00000447079.4 + 14 4370 c.4337G>A c.(4336-4338)gGa>gAa p.G1446E CDK12_ENST00000430627.2_Missense_Mutation_p.G1437E NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1446 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CTGGGGCCAGGAACCACTGGG 0.577 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 35 70 --- --- --- --- MED26 9441 broad.mit.edu 37 19 16688032 16688032 + Silent SNP G G T TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr19:16688032G>T ENST00000263390.3 - 3 871 c.609C>A c.(607-609)ggC>ggA p.G203G CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G NM_004831.3 NP_004822.2 O95402 MED26_HUMAN mediator complex subunit 26 203 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 8 TGCCCTCTGGGCCTGCATGCC 0.672 10 143 --- --- --- --- DNASE2B 58511 broad.mit.edu 37 1 84880355 84880356 + Frame_Shift_Ins INS - - T TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr1:84880355_84880356insT ENST00000370665.3 + 6 923_924 c.890_891insT c.(889-894)tcttatfs p.Y298fs DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.Y90fs NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 298 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) TCACGACACTCTTATTTCAGTT 0.406 18 54 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152521933 152521933 + Frame_Shift_Del DEL G G - TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr2:152521933delG ENST00000427231.2 - 42 5354 c.5152delC c.(5152-5154)cagfs p.Q1718fs NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.Q1718fs NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 1718 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCGGGGTGCTGGCGATACTTC 0.493 21 16 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38875871 38875872 + Frame_Shift_Ins INS - - A TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr6:38875871_38875872insA ENST00000359357.3 + 62 9091_9092 c.8837_8838insA c.(8836-8841)ttacatfs p.H2947fs DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.H3164fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.H2911fs dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGGAAGAACTTACATGTTGTTC 0.356 7 39 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 2807750 2807753 + Splice_Site DEL TACA TACA - TCGA-EJ-7784-01A-11D-2114-08 TCGA-EJ-7784-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5987d460-eb7f-49e5-b817-f5032359575a b330d9da-504a-4dfe-b696-ceebe0369ede g.chr8:2807750_2807753delTACA ENST00000520002.1 - 68 10872_10873 c.10317_10318delTGTA c.(10315-10320)tatgta>tata p.V3440fs CSMD1_ENST00000542608.1_Splice_Site_p.V3262fs|CSMD1_ENST00000602557.1_Splice_Site_p.V3440fs|CSMD1_ENST00000537824.1_Splice_Site_p.V3439fs|CSMD1_ENST00000400186.3_Splice_Site_p.V3263fs|CSMD1_ENST00000602723.1_Splice_Site_p.V3263fs Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3440 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CACATGTACTTACATAACCATCTA 0.441 11 151 --- --- --- ---