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 ARHGEF1 0 broad.mit.edu 37 19 42396179 42396179 + Silent SNP C C T TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr19:42396179C>T ENST00000599846.1 + 5 434 c.309C>T c.(307-309)ttC>ttT p.F103F ARHGEF1_ENST00000347545.4_Intron|ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000354532.3_Silent_p.F103F|ARHGEF1_ENST00000337665.4_Silent_p.F118F|ARHGEF1_ENST00000378152.4_Intron Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 103 RGSL. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) ACCACAGCTTCCTGGAGAAGA 0.612000 29 33 0 0 1 0 0 FAM132A 388581 broad.mit.edu 37 1 1179654 1179654 + Splice_Site SNP C C T TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr1:1179654C>T ENST00000330388.2 - 3 327 c.294_splice c.e3-1 p.R99_splice NM_001014980.2 NP_001014980.1 Q5T7M4 F132A_HUMAN family with sequence similarity 132, member A 99 extracellular region haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GAAGAGATCCCGCTGGGGGGA 0.672000 3 44 0 0 1 0 0 NLRX1 79671 broad.mit.edu 37 11 119050958 119050958 + Missense_Mutation SNP G G A rs151306288 TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr11:119050958G>A ENST00000409109.1 + 7 2815 c.2228G>A c.(2227-2229)cGc>cAc p.R743H NLRX1_ENST00000292199.2_Missense_Mutation_p.R743H|NLRX1_ENST00000409991.1_Missense_Mutation_p.R743H|NLRX1_ENST00000409265.4_Missense_Mutation_p.R743H|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.R743H Q86UT6 NLRX1_HUMAN NLR family member X1 743 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCTGGGCTGCGCACACTCCTG 0.612000 93 42 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101375482 101375482 + Missense_Mutation SNP C C T TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr11:101375482C>T ENST00000344327.3 - 2 642 c.218G>A c.(217-219)cGt>cAt p.R73H TRPC6_ENST00000532133.1_Missense_Mutation_p.R73H|TRPC6_ENST00000360497.4_Missense_Mutation_p.R73H|TRPC6_ENST00000348423.4_Missense_Mutation_p.R73H|TRPC6_ENST00000526713.1_5'UTR NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 73 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CCCCTTCTCACGGAGAACTGT 0.463000 68 124 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71978154 71978154 + Silent SNP C C G rs147161623 TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr12:71978154C>G ENST00000266674.5 + 18 2675 c.2364C>G c.(2362-2364)tcC>tcG p.S788S LGR5_ENST00000540815.2_Silent_p.S764S|LGR5_ENST00000536515.1_Silent_p.S716S O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 788 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TGTCCTTCTCCTCTTTAATAA 0.428000 5 168 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29090043 29090043 + Missense_Mutation SNP C C T TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr22:29090043C>T ENST00000544772.1 - 14 2211 c.775G>A c.(775-777)Gcc>Acc p.A259T CHEK2_ENST00000382578.1_Missense_Mutation_p.A389T|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.A451T|CHEK2_ENST00000404276.1_Missense_Mutation_p.A480T|CHEK2_ENST00000405598.1_Missense_Mutation_p.A480T|CHEK2_ENST00000402731.1_Missense_Mutation_p.A451T|CHEK2_ENST00000328354.6_Missense_Mutation_p.A480T|CHEK2_ENST00000403642.1_Missense_Mutation_p.A389T|CHEK2_ENST00000382580.2_Missense_Mutation_p.A523T|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 480 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 TGTCTTAAGGCTTCTTCTGTC 0.488000 F breast Direct reversal of damage;Other conserved DNA damage response genes 97 131 0 0 1 0 0 AMACR 23600 broad.mit.edu 37 5 33989379 33989379 + Missense_Mutation SNP A A G TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr5:33989379A>G ENST00000335606.6 - 5 1056 c.968T>C c.(967-969)gTg>gCg p.V323A AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.V323A|AMACR_ENST00000502637.1_Missense_Mutation_p.V308A NM_001167595.1|NM_014324.5 NP_001161067.1|NP_055139.4 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase 323 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 GCGGGGGCTCACGTCCTGCTC 0.507000 42 82 0 0 1 0 0 MTHFD2P1 0 broad.mit.edu 37 3 95374179 95374179 + RNA SNP C C T TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr3:95374179C>T ENST00000494840.1 - 0 1682 NR_077228.1 GATATTCTAACGGTGGCATCA 0.418000 16 25 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578524 7578524 + Missense_Mutation SNP G G C TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr17:7578524G>C ENST00000420246.2 - 5 538 c.406C>G c.(406-408)Caa>Gaa p.Q136E TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E|TP53_ENST00000269305.4_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 136 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTGGCCAGTTGGCAAAACATC 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 70 4 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159842834 159842834 + Missense_Mutation SNP G G A rs148876212 byFrequency TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr1:159842834G>A ENST00000426543.2 - 11 1677 c.1222C>T c.(1222-1224)Cgg>Tgg p.R408W CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.R493W Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 493 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) GTGGCAATCCGGTTCTGCACT 0.597000 7 99 0 0 1 0 0 ZDHHC11 79844 broad.mit.edu 37 5 840585 840585 + Missense_Mutation SNP C C T rs138234809 by1000genomes TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr5:840585C>T ENST00000511539.1 - 2 274 c.170G>A c.(169-171)cGa>cAa p.R57Q ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000283441.8_Intron Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 0 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) TTGGGGGGATCGGGGGCTTAG 0.597000 4 58 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203025938 203025938 + Missense_Mutation SNP C C G TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr1:203025938C>G ENST00000367240.2 + 18 2731 c.2204C>G c.(2203-2205)cCc>cGc p.P735R PPFIA4_ENST00000272198.6_Missense_Mutation_p.P250R|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P250R|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P734R|PPFIA4_ENST00000414050.2_Missense_Mutation_p.P463R|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P250R O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 250 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GGCAGCAACCCCAGCAGCAGC 0.562000 4 11 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15893493 15893493 + Nonsense_Mutation SNP G G T TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr21:15893493G>T ENST00000285670.2 - 3 485 c.311C>A c.(310-312)tCa>tAa p.S104* SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Nonsense_Mutation_p.S36* NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 36 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) ATCTGGTTTTGATAAAGAATT 0.299000 3 51 1 1 1 1 0 GOLGA4 2803 broad.mit.edu 37 3 37369109 37369109 + Missense_Mutation SNP A A G TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr3:37369109A>G ENST00000361924.2 + 14 6106 c.5732A>G c.(5731-5733)cAt>cGt p.H1911R GOLGA4_ENST00000356847.4_Missense_Mutation_p.H1933R|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1911 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TCCAAATCACATTTGGTCCAA 0.403000 49 51 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24392470 24392470 + Missense_Mutation SNP T T C TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr1:24392470T>C ENST00000330966.7 - 29 3616 c.3454A>G c.(3454-3456)Act>Gct p.T1152A MYOM3_ENST00000374434.3_Missense_Mutation_p.T1149A|MYOM3_ENST00000338909.5_Missense_Mutation_p.T42A|MYOM3_ENST00000329601.7_Missense_Mutation_p.T1151A|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 1149 Ig-like C2-type 3. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TGAAAGCGAGTCTCCTTCTTG 0.517000 5 160 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408070 29408070 + Missense_Mutation SNP G G A TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr6:29408070G>A ENST00000444197.2 + 1 988 c.278G>A c.(277-279)cGc>cAc p.R93H OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CACATCTCTCGCTCTGGATGT 0.587000 51 65 0 0 1 0 0 CLEC9A 283420 broad.mit.edu 37 12 10215755 10215755 + Missense_Mutation SNP T T C TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr12:10215755T>C ENST00000355819.1 + 7 1034 c.421T>C c.(421-423)Tgt>Cgt p.C141R NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 141 C-type lectin. positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 22 TCAAGAGAATTGTTTAAAGGA 0.368000 10 103 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152383461 152383461 + Missense_Mutation SNP C C T TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr2:152383461C>T ENST00000397345.3 - 148 22118 c.21916G>A c.(21916-21918)Gcc>Acc p.A7306T NEB_ENST00000409198.1_Missense_Mutation_p.A5605T|NEB_ENST00000172853.10_Missense_Mutation_p.A5605T|NEB_ENST00000603639.1_Missense_Mutation_p.A7306T|NEB_ENST00000427231.2_Missense_Mutation_p.A7306T|NEB_ENST00000604864.1_Missense_Mutation_p.A7306T NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5605 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) TTCCTGAGGGCGAGCACCGTG 0.463000 6 9 0 0 1 0 0 FBXO43 286151 broad.mit.edu 37 8 101146458 101146458 + Silent SNP T T C TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr8:101146458T>C ENST00000428847.2 - 4 2125 c.1809A>G c.(1807-1809)ggA>ggG p.G603G NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 603 meiosis zinc ion binding p.G569V(2)|p.G569G(2)|p.G603G(1)|p.G603V(1) endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TCAAAACTTCTCCCCAGGGAG 0.408000 58 57 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156814052 156814052 + Silent SNP G G A TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr1:156814052G>A ENST00000368195.3 - 15 3154 c.2758C>T c.(2758-2760)Ctg>Ttg p.L920L NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 920 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGGACATGCAGCCCCCCAGCA 0.562000 4 82 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35583683 35583683 + Silent SNP C C T TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr8:35583683C>T ENST00000287272.2 + 9 1130 c.1110C>T c.(1108-1110)ctC>ctT p.L370L UNC5D_ENST00000420357.1_Silent_p.L372L|UNC5D_ENST00000416672.1_Silent_p.L444L|UNC5D_ENST00000453357.2_Silent_p.L434L|UNC5D_ENST00000404895.2_Silent_p.L439L|UNC5D_ENST00000449677.1_Silent_p.L15L Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 439 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) ACTCCCTGCTCCTGAATTCTG 0.502000 8 129 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148809259 148809259 + Missense_Mutation SNP T T A TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr7:148809259T>A ENST00000378061.2 - 3 406 c.274A>T c.(274-276)Atg>Ttg p.M92L ZNF425_ENST00000484196.1_5'UTR NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 92 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GTATTCTTCATGTTCAACTGT 0.363000 16 177 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119961500 119961500 + Missense_Mutation SNP G G A TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr12:119961500G>A ENST00000327554.2 + 11 1571 c.1106G>A c.(1105-1107)cGc>cAc p.R369H RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 369 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GTCCACAGCCGCACTAATTGT 0.567000 3 65 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149676821 149676821 + Missense_Mutation SNP A A G TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr5:149676821A>G ENST00000328668.7 - 2 2245 c.1666T>C c.(1666-1668)Ttt>Ctt p.F556L NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 556 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTACGGAAAAAGGATCGAAGC 0.537000 3 138 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111136 55111136 + Missense_Mutation SNP T T G TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr11:55111136T>G ENST00000314721.2 + 1 510 c.460T>G c.(460-462)Tct>Gct p.S154A NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 TTTTGTGCACTCTGTGGTTCA 0.453000 10 161 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133942444 133942444 + Silent SNP C C T rs145571152 byFrequency TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr9:133942444C>T ENST00000361069.4 + 14 2578 c.2445C>T c.(2443-2445)aaC>aaT p.N815N LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 815 Laminin EGF-like 8. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GTAGCGGGAACGTGGACCCCA 0.647000 5 39 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105990414 105990414 + Missense_Mutation SNP G G A TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr10:105990414G>A ENST00000357060.3 - 2 368 c.253C>T c.(253-255)Cgg>Tgg p.R85W WDR96_ENST00000369720.1_Missense_Mutation_p.R15W|WDR96_ENST00000278064.2_Missense_Mutation_p.R15W|WDR96_ENST00000428666.1_Missense_Mutation_p.R85W|WDR96_ENST00000369719.1_Missense_Mutation_p.R15W NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 85 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TTTAGCTTCCGGTCAGAAAAA 0.423000 50 59 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128477431 128477431 + Missense_Mutation SNP G G A TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr2:128477431G>A ENST00000322313.4 - 16 2326 c.2168C>T c.(2167-2169)cCt>cTt p.P723L NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 723 Collagen-like. postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CTGAGGGCCAGGCGGGCCTTG 0.632000 5 81 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29054105 29054105 + Missense_Mutation SNP C C T TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr18:29054105C>T ENST00000257189.4 + 15 2206 c.2123C>T c.(2122-2124)gCc>gTc p.A708V NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 708 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AATACGTATGCCAGAGGCACA 0.438000 6 126 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42857651 42857651 + Silent SNP G G A TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr19:42857651G>A ENST00000334370.4 + 20 4019 c.3384G>A c.(3382-3384)cgG>cgA p.R1128R MEGF8_ENST00000251268.6_Silent_p.R1195R NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1195 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) AACGATGCCGGCCCGGCAGCT 0.682000 5 29 0 0 1 0 0 MAPK12 6300 broad.mit.edu 37 22 50693717 50693717 + Missense_Mutation SNP G G C TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr22:50693717G>C ENST00000215659.8 - 11 1248 c.933C>G c.(931-933)ttC>ttG p.F311L MAPK12_ENST00000395780.1_Missense_Mutation_p.F221L|MAPK12_ENST00000497036.1_5'UTR NM_002969.3 NP_002960.2 P53778 MK12_HUMAN mitogen-activated protein kinase 12 311 Protein kinase. cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction mitochondrion|nucleoplasm ATP binding|magnesium ion binding|MAP kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 all_cancers(38;5.78e-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) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCAGGGACTCGAAGTAGGGAT 0.612000 60 66 0 0 1 0 0 ABRA 137735 broad.mit.edu 37 8 107782084 107782084 + Missense_Mutation SNP G G A rs113926734 TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr8:107782084G>A ENST00000311955.3 - 1 389 c.335C>T c.(334-336)aCg>aTg p.T112M NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 112 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GCTGACCACCGTTTTGGACAC 0.547000 5 124 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72057258 72057258 + Missense_Mutation SNP T T C TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr12:72057258T>C ENST00000378743.3 - 1 491 c.133A>G c.(133-135)Agc>Ggc p.S45G THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CCGCCGCCGCTGCTGCTGCTG 0.637000 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 141 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 35 74 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 62995074 62995074 + Silent SNP A A G TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr1:62995074A>G ENST00000251157.5 - 30 3688 c.3655T>C c.(3655-3657)Tta>Cta p.L1219L DOCK7_ENST00000340370.5_Silent_p.L1188L NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1219 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 CTGGAGAGTAAATTGTGTACC 0.408000 35 58 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95385365 95385365 + Nonsense_Mutation SNP G G T TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr10:95385365G>T ENST00000371447.3 + 5 1036 c.898G>T c.(898-900)Gaa>Taa p.E300* NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 300 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding p.V301_E302del(1) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) CAAGCTTGGAGAAGTAGAGCC 0.413000 6 43 0.000157383 0.000161131 1 1 0 FAM117A 81558 broad.mit.edu 37 17 47841412 47841412 + Missense_Mutation SNP G G A TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr17:47841412G>A ENST00000240364.2 - 1 117 c.38C>T c.(37-39)gCc>gTc p.A13V FAM117A_ENST00000513602.1_Intron|FAM117A_ENST00000514018.1_Intron NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 13 haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 cggcccccaggcacctccgcc 0.816000 4 6 0 0 1 0 0 OR4F5 79501 broad.mit.edu 37 1 69454 69454 + Frame_Shift_Del DEL C C - TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr1:69454delC ENST00000335137.3 + 1 364 c.364delC c.(364-366)ccfs p.P122fs NM_001005484.1 NP_001005484.1 Q8NH21 OR4F5_HUMAN olfactory receptor, family 4, subfamily F, member 5 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1)|ovary(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AATATGCAAGCCCCTACACTA 0.478 2 4 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120491679 120491680 + Frame_Shift_Del DEL CT CT - TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr1:120491679_120491680delCT ENST00000256646.2 - 16 2768_2769 c.2549_2550delAG c.(2548-2550)gfs p.E850fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 850 EGF-like 22. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) AATTTGGTGACTCTTTGCAAAC 0.431 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome OREG0013733 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 201 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120497724 120497725 + Frame_Shift_Ins INS - - T TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr1:120497724_120497725insT ENST00000256646.2 - 13 2376_2377 c.2157_2158insA c.(2155-2160)tcaggtfs p.G720fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 720 EGF-like 19. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCGTTCACCTGTGAGTAGCAGC 0.535 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 9 141 --- --- --- --- DHX30 22907 broad.mit.edu 37 3 47888021 47888023 + In_Frame_Del DEL ATC ATC - TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr3:47888021_47888023delATC ENST00000446256.2 + 12 1914_1916 c.1342_1344delATC c.(1342-1344)del p.I449del DHX30_ENST00000445061.1_In_Frame_Del_p.I488del|DHX30_ENST00000348968.4_In_Frame_Del_p.I460del|DHX30_ENST00000457607.1_In_Frame_Del_p.I516del NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 488 Helicase ATP-binding. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CTGCAATGTTATCATCACCCAAC 0.650 64 167 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 11 427 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114214679 114214681 + In_Frame_Del DEL CAC CAC - TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr4:114214679_114214681delCAC ENST00000357077.4 + 22 2513_2515 c.2460_2462delCAC c.(2458-2463)gtc>gt p.VT820del ANK2_ENST00000394537.3_In_Frame_Del_p.VT820del|ANK2_ENST00000264366.6_In_Frame_Del_p.VT820del|ANK2_ENST00000509550.1_In_Frame_Del_p.VT29del|ANK2_ENST00000506722.1_In_Frame_Del_p.VT799del NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 820 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGAGGAGGTCACCACCACCACC 0.468 8 75 --- --- --- --- SLC7A11 23657 broad.mit.edu 37 4 139144383 139144386 + Frame_Shift_Del DEL TAAT TAAT - TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr4:139144383_139144386delTAAT ENST00000280612.5 - 4 892_895 c.613_616delATTA c.(613-618)tafs p.II205fs NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 205 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) CCAGGGACTATAATTATCAGAATT 0.387 7 91 --- --- --- --- FSTL5 56884 broad.mit.edu 37 4 162697089 162697089 + Frame_Shift_Del DEL T T - TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr4:162697089delT ENST00000306100.5 - 5 983 c.547delA c.(547-549)tgfs p.M183fs FSTL5_ENST00000536695.1_Frame_Shift_Del_p.M182fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.M182fs|FSTL5_ENST00000379164.4_Frame_Shift_Del_p.M182fs NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 183 EF-hand 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TATTTAAACATTTGATCCACC 0.284 47 27 --- --- --- --- RP11-756H20.1 0 broad.mit.edu 37 5 124935566 124935567 + RNA INS - - A TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr5:124935566_124935567insA ENST00000564199.1 + 0 324 ggcagaggcagaaaaaaaaatt 0.431 3 4 --- --- --- --- AC005592.2 0 broad.mit.edu 37 5 141721474 141721474 + RNA DEL G G - rs58164156 TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr5:141721474delG ENST00000510311.1 + 0 78 AC005592.2_ENST00000515288.1_RNA aggaggaggaggGAGGCAAAG 0.463 2 4 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139393364 139393365 + Frame_Shift_Del DEL AT AT - TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr9:139393364_139393365delAT ENST00000277541.6 - 33 6241_6242 c.6166_6167delAT c.(6166-6168)gfs p.M2056fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2056 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.M2057fs*211(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTTGTTCTGCATATCTTTGTTA 0.609 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 8 313 --- --- --- --- RNASEH2C 84153 broad.mit.edu 37 11 65487791 65487793 + In_Frame_Del DEL CTT CTT - TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr11:65487791_65487793delCTT ENST00000308418.4 - 2 456_458 c.268_270delAAG c.(268-270)del p.K90del RNASEH2C_ENST00000528220.1_In_Frame_Del_p.K7del|RNASEH2C_ENST00000527610.1_In_Frame_Del_p.K90del NM_032193.3 NP_115569.2 Q8TDP1 RNH2C_HUMAN ribonuclease H2, subunit C 90 RNA catabolic process nucleus|ribonuclease H2 complex cervix(1) 1 CCATCGACACCTTCTTCTCTTCT 0.621 13 147 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54672374 54672376 + In_Frame_Del DEL AGA AGA - rs143105109 TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr19:54672374_54672376delAGA ENST00000376591.4 - 4 622_624 c.491_493delTCT c.(490-495)tcc>t p.FS164del TMC4_ENST00000301187.4_In_Frame_Del_p.FS158del|TMC4_ENST00000476013.2_5'UTR NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 164 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGCAGCAGGGAGAAGTAGGACTC 0.670 OREG0025670 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 0 --- --- --- --- DHX35 60625 broad.mit.edu 37 20 37591029 37591029 + Frame_Shift_Del DEL C C - TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chr20:37591029delC ENST00000252011.3 + 1 52 c.19delC c.(19-21)cgfs p.P7fs DHX35_ENST00000373323.4_Frame_Shift_Del_p.P7fs|DHX35_ENST00000373325.2_Frame_Shift_Del_p.P7fs NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 7 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) GCCCGTGGGACCGGTGAAGTT 0.721 16 14 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938271 76938272 + Frame_Shift_Del DEL TT TT - TCGA-DU-7301-01A-11D-2086-08 TCGA-DU-7301-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8 536cb58b-852c-491a-94f7-ffbea4c98871 g.chrX:76938271_76938272delTT ENST00000373344.5 - 9 2690_2691 c.2476_2477delAA c.(2476-2478)gfs p.K826fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K788fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 826 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) actcatgctctttatctctttt 0.337 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 64 14 --- --- --- ---