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 PTH2R 5746 broad.mit.edu 37 2 209309554 209309554 + Silent SNP C C A rs143390240 TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr2:209309554C>A ENST00000272847.2 + 7 1008 c.795C>A c.(793-795)atC>atA p.I265I PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 265 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) ATAATCTCATCTTTGTGGCTT 0.413000 36 192 2.24893e-16 3.11391e-16 0.002222 1 0 MCTP2 55784 broad.mit.edu 37 15 94943169 94943169 + Missense_Mutation SNP C C G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr15:94943169C>G ENST00000357742.4 + 15 1910 c.1910C>G c.(1909-1911)aCt>aGt p.T637S MCTP2_ENST00000451018.3_Missense_Mutation_p.T637S|MCTP2_ENST00000331706.4_Missense_Mutation_p.T225S|MCTP2_ENST00000557742.1_Missense_Mutation_p.T225S NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 637 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AGTATTAGGACTTTTACTCCC 0.448000 21 125 0 0 0.002299 0 0 RTN1 6252 broad.mit.edu 37 14 60212786 60212786 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr14:60212786C>T ENST00000267484.5 - 2 990 c.655G>A c.(655-657)Gac>Aac p.D219N NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 219 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) AAGTCCAAGTCTTTATCTTCC 0.448000 44 218 0 0 0.002222 0 0 SNRPE 6635 broad.mit.edu 37 1 203832798 203832798 + Missense_Mutation SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr1:203832798G>A ENST00000414487.2 + 3 134 c.89G>A c.(88-90)cGg>cAg p.R30Q SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_5'UTR NM_003094.2 NP_003085.1 P62304 RUXE_HUMAN small nuclear ribonucleoprotein polypeptide E 30 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding breast(1)|large_intestine(2)|lung(1)|skin(1) 5 all_cancers(21;0.103) BRCA - Breast invasive adenocarcinoma(75;0.109) CAGAGATCGCGGATTCAGGTG 0.473000 555 123 0 0 0.003610 0 0 CERS3 204219 broad.mit.edu 37 15 100996220 100996220 + Missense_Mutation SNP A A T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr15:100996220A>T ENST00000284382.4 - 12 1300 c.877T>A c.(877-879)Tat>Aat p.Y293N CERS3_ENST00000538112.2_Missense_Mutation_p.Y293N|CERS3_ENST00000394113.1_Missense_Mutation_p.Y293N|CERS3_ENST00000560944.1_Intron NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 293 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity p.Y293H(1) TCGAGGTGATACATAGGCAAG 0.378000 5 25 0 0 0.000602 0 0 COBL 23242 broad.mit.edu 37 7 51096966 51096966 + Silent SNP T T C TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr7:51096966T>C ENST00000395542.2 - 12 2257 c.2073A>G c.(2071-2073)aaA>aaG p.K691K COBL_ENST00000265136.7_Silent_p.K609K O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 609 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CACGGATTCCTTTTCCGACGT 0.537000 3 112 0 0 0.000248 0 0 MYO1D 4642 broad.mit.edu 37 17 31107759 31107759 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr17:31107759C>T ENST00000318217.5 - 2 443 c.139G>A c.(139-141)Gtt>Att p.V47I MYO1D_ENST00000394649.4_5'UTR|MYO1D_ENST00000579584.1_Missense_Mutation_p.V47I|MYO1D_ENST00000583621.1_Missense_Mutation_p.V47I NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 47 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) TTCACAGAAACGACGACTTCT 0.423000 10 50 0 0 0.008291 0 0 MYOC 4653 broad.mit.edu 37 1 171605340 171605340 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr1:171605340C>T ENST00000037502.5 - 3 1299 c.1240G>A c.(1240-1242)Gaa>Aaa p.E414K NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 414 Olfactomedin-like. E -> K. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity p.E414K(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CAGGTTTGTTCGAGTTCCAGA 0.527000 34 129 0 0 0.004878 0 0 PCDHGA4 0 broad.mit.edu 37 5 140736510 140736510 + Silent SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr5:140736510C>T ENST00000571252.1 + 1 1743 c.1743C>T c.(1741-1743)tcC>tcT p.S581S PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCCCGCTCCGCAGATTCCG 0.592000 38 192 0 0 0.006230 0 0 ADCY7 113 broad.mit.edu 37 16 50347883 50347883 + Silent SNP C C G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr16:50347883C>G ENST00000394697.2 + 23 3106 c.2766C>G c.(2764-2766)ccC>ccG p.P922P ADCY7_ENST00000254235.3_Silent_p.P922P P51828 ADCY7_HUMAN adenylate cyclase 7 922 Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TACTGAAGCCCAAGTTCAGCG 0.617000 14 73 0 0 0.002450 0 0 NIPSNAP3A 25934 broad.mit.edu 37 9 107513272 107513272 + Silent SNP C C T rs146388542 byFrequency TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr9:107513272C>T ENST00000374767.4 + 2 201 c.96C>T c.(94-96)taC>taT p.Y32Y NM_015469.1 NP_056284.1 nipsnap homolog 3A (C. elegans) autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 8 CCAGACAATACGATGGAATAT 0.363000 15 90 0 0 0.002450 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29972757 29972757 + Missense_Mutation SNP G G T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chrX:29972757G>T ENST00000378993.1 + 10 1993 c.1320G>T c.(1318-1320)aaG>aaT p.K440N IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K440N NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 440 TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity p.K440K(1) biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TGCTTGAAAAGCATTATGGAT 0.373000 14 74 0.00316338 0.00402612 0.003163 1 0 TSPAN33 340348 broad.mit.edu 37 7 128802337 128802337 + Missense_Mutation SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr7:128802337G>A ENST00000289407.4 + 3 372 c.263G>A c.(262-264)cGc>cAc p.R88H NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 88 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 GGGTCCCTCCGCGAGAACATC 0.627000 6 47 0 0 0.003080 0 0 LRRC37A5P 0 broad.mit.edu 37 9 114371450 114371450 + RNA SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr9:114371450G>A ENST00000374304.1 - 0 349 AGTGCAGTCCGTCTTCAAGGT 0.493000 42 163 0 0 0.003610 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 61 0 0 0.004672 0 0 SETD2 29072 broad.mit.edu 37 3 47098400 47098400 + Nonsense_Mutation SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr3:47098400G>A ENST00000409792.3 - 15 6916 c.6874C>T c.(6874-6876)Caa>Taa p.Q2292* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2292 Gln-rich.|Low charge region. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ATGGTTGCTTGAGACTGTGCA 0.463000 """N, F, S, Mis""" clear cell renal carcinoma 14 87 0 0 0.001855 0 0 MORC1 27136 broad.mit.edu 37 3 108773665 108773665 + Nonsense_Mutation SNP T T A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr3:108773665T>A ENST00000232603.5 - 14 1322 c.1240A>T c.(1240-1242)Aaa>Taa p.K414* MORC1_ENST00000483760.1_Nonsense_Mutation_p.K414* NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 414 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AATTCCTGTTTATTATGGGAT 0.383000 18 72 0 0 0.008871 0 0 DLG4 1742 broad.mit.edu 37 17 7106755 7106755 + Missense_Mutation SNP T T G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr17:7106755T>G ENST00000399510.2 - 8 1474 c.622A>C c.(622-624)Aag>Cag p.K208Q DLG4_ENST00000485100.1_Missense_Mutation_p.K162Q|DLG4_ENST00000302955.6_Missense_Mutation_p.K162Q|DLG4_ENST00000399506.2_Missense_Mutation_p.K165Q NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 165 PDZ 2. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 TTAGGCCCCTTGATGAGCTTG 0.607000 3 76 0 0 0.004672 0 0 TRIM60 166655 broad.mit.edu 37 4 165962269 165962269 + Nonsense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr4:165962269C>T ENST00000512596.1 + 3 1261 c.1045C>T c.(1045-1047)Cga>Tga p.R349* TRIM60_ENST00000341062.5_Nonsense_Mutation_p.R349*|TRIM60_ENST00000508504.1_Nonsense_Mutation_p.R349* NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 349 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TAGTTCTGGCCGACATTACTG 0.433000 20 104 0 0 0.001882 0 0 CLEC4C 170482 broad.mit.edu 37 12 7883393 7883393 + Splice_Site SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr12:7883393G>A ENST00000542353.1 - 6 987 c.497_splice c.e6+1 p.T166_splice CLEC4C_ENST00000360345.3_Splice_Site_p.T166_splice|CLEC4C_ENST00000540085.1_Splice_Site_p.T135_splice|CLEC4C_ENST00000354629.5_Splice_Site_p.T135_splice NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 166 C-type lectin. innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) CTATACTCACGTGACATTTTC 0.433000 18 99 0 0 0.001523 0 0 ERC2 26059 broad.mit.edu 37 3 56026258 56026258 + Silent SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr3:56026258G>A ENST00000288221.6 - 11 2337 c.2082C>T c.(2080-2082)gaC>gaT p.D694D NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 694 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TCATCCTGGAGTCATCTTCAA 0.428000 33 185 0 0 0.006230 0 0 TTN 7273 broad.mit.edu 37 2 179585342 179585342 + Missense_Mutation SNP C C A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr2:179585342C>A ENST00000589042.1 - 80 23371 c.23147G>T c.(23146-23148)gGt>gTt p.G7716V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G7399V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6472V|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7399 Ig-like 59. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACATCAGAACCTTTAAGAGC 0.393000 5 34 2.0095e-06 2.66523e-06 0.001984 1 0 APOA4 337 broad.mit.edu 37 11 116691938 116691938 + Missense_Mutation SNP C C T rs1042372 TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr11:116691938C>T ENST00000357780.3 - 3 950 c.836G>A c.(835-837)aGg>aAg p.R279K NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GGTGTTGCCCCTCAGGTTGCC 0.677000 6 118 0 0 0.001168 0 0 HYDIN 54768 broad.mit.edu 37 16 70902514 70902514 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr16:70902514C>T ENST00000393567.2 - 66 11419 c.11269G>A c.(11269-11271)Gta>Ata p.V3757I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3757 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTTCTGGGTACGTCCACCCAC 0.527000 5 42 0 0 0.001984 0 0 CHD4 1108 broad.mit.edu 37 12 6702730 6702730 + Missense_Mutation SNP T T C TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr12:6702730T>C ENST00000309577.6 - 16 2529 c.2366A>G c.(2365-2367)aAc>aGc p.N789S CHD4_ENST00000357008.2_Missense_Mutation_p.N789S|CHD4_ENST00000544484.1_Missense_Mutation_p.N786S|CHD4_ENST00000544040.1_Missense_Mutation_p.N782S Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 789 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CCGCTCCCAGTTGATGATGGT 0.532000 29 147 0 0 0.005443 0 0 RARS 5917 broad.mit.edu 37 5 167921621 167921621 + Missense_Mutation SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr5:167921621G>A ENST00000231572.3 + 5 599 c.545G>A c.(544-546)gGa>gAa p.G182E RARS_ENST00000538719.1_5'UTR NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 182 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) CTAGTGAATGGAGTTCAACTA 0.343000 14 87 0 0 0.004007 0 0 ZNF770 54989 broad.mit.edu 37 15 35274299 35274299 + Nonsense_Mutation SNP G G C TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr15:35274299G>C ENST00000356321.4 - 3 1681 c.1337C>G c.(1336-1338)tCa>tGa p.S446* NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TTCCTCACCTGATGAACCACA 0.343000 12 67 0 0 0.001368 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130341228 130341228 + Silent SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr11:130341228G>A ENST00000299164.2 + 7 2028 c.2028G>A c.(2026-2028)ggG>ggA p.G676G NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 676 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GGGTGTGTGGGGGAGACAATA 0.572000 12 69 0 0 0.002450 0 0 CUEDC1 404093 broad.mit.edu 37 17 55946527 55946527 + Missense_Mutation SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr17:55946527G>A ENST00000577830.1 - 7 1309 c.896C>T c.(895-897)tCt>tTt p.S299F CUEDC1_ENST00000577840.1_Missense_Mutation_p.S162F|CUEDC1_ENST00000578357.1_5'UTR|CUEDC1_ENST00000407144.2_Missense_Mutation_p.S299F|CUEDC1_ENST00000360238.2_Missense_Mutation_p.S299F NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 299 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 GGCATCTTCAGACACAGCGGG 0.617000 6 30 0 0 0.001984 0 0 ITIH6 347365 broad.mit.edu 37 X 54776462 54776462 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chrX:54776462C>T ENST00000218436.6 - 13 3837 c.3808G>A c.(3808-3810)Gtg>Atg p.V1270M NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 1270 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ATCACAGGCACATCTGGGCCA 0.597000 14 51 0 0 0.004007 0 0 SLC28A1 9154 broad.mit.edu 37 15 85467219 85467219 + Missense_Mutation SNP G G A rs150926643 TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr15:85467219G>A ENST00000394573.1 + 12 1163 c.961G>A c.(961-963)Gag>Aag p.E321K SLC28A1_ENST00000537624.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000537703.1_Missense_Mutation_p.E243K|SLC28A1_ENST00000538177.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000537216.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000286749.3_Missense_Mutation_p.E321K NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 321 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding p.E321K(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TTTGCAGACCGAGGCTCCATT 0.567000 9 57 0 0 0.004482 0 0 PPP3R1 5534 broad.mit.edu 37 2 68413615 68413615 + Silent SNP A A G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr2:68413615A>G ENST00000234310.3 - 5 853 c.450T>C c.(448-450)ttT>ttC p.F150F PPP3R1_ENST00000409752.1_Silent_p.F169F|PPP3R1_ENST00000409377.1_Silent_p.F140F NM_000945.3 NP_000936.1 P63098 CANB1_HUMAN protein phosphatase 3, regulatory subunit B, alpha 150 EF-hand 4. activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals calcineurin complex|cytosol calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding large_intestine(1) 1 Pimecrolimus(DB00337) AGAATTCTTCAAAGGATATTC 0.333000 14 93 0 0 0.004007 0 0 PCDHA3 0 broad.mit.edu 37 5 140182210 140182210 + Silent SNP G G T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr5:140182210G>T ENST00000522353.2 + 1 1428 c.1428G>T c.(1426-1428)acG>acT p.T476T PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.T476T|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACATCTTCACGGTGTCTGCGC 0.667000 5 220 1.08611e-07 1.45585e-07 0.000978 1 0 DENND3 22898 broad.mit.edu 37 8 142176321 142176321 + Missense_Mutation SNP C C G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr8:142176321C>G ENST00000519811.1 + 12 1656 c.1586C>G c.(1585-1587)cCg>cGg p.P529R DENND3_ENST00000424248.1_Missense_Mutation_p.P397R|DENND3_ENST00000262585.2_Missense_Mutation_p.P449R A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 449 p.P449L(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CCAAGGAGACCGACCGTTGAG 0.483000 6 257 0 0 0.001168 0 0 GRPR 2925 broad.mit.edu 37 X 16168588 16168588 + Missense_Mutation SNP A A G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chrX:16168588A>G ENST00000380289.2 + 2 972 c.574A>G c.(574-576)Acc>Gcc p.T192A NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 192 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) CACCAACCAGACCTTCATTAG 0.502000 35 141 0 0 0.006230 0 0 NRAP 4892 broad.mit.edu 37 10 115401191 115401191 + Missense_Mutation SNP C C T rs138124439 TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr10:115401191C>T ENST00000369358.4 - 13 1500 c.1256G>A c.(1255-1257)cGc>cAc p.R419H NRAP_ENST00000359988.3_Missense_Mutation_p.R419H|NRAP_ENST00000369360.3_Missense_Mutation_p.R384H|NRAP_ENST00000360478.3_Missense_Mutation_p.R384H Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 419 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TCCTTCATAGCGGCCTCTCAT 0.438000 25 93 0 0 0.005443 0 0 CCER1 196477 broad.mit.edu 37 12 91347670 91347670 + Missense_Mutation SNP T T C TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr12:91347670T>C ENST00000358859.2 - 1 1283 c.850A>G c.(850-852)Aat>Gat p.N284D CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 tcatcatcatttttcttctcc 0.517000 7 308 0 0 0.003080 0 0 ACSM2A 123876 broad.mit.edu 37 16 20477031 20477031 + Silent SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr16:20477031C>T ENST00000573854.1 + 3 484 c.370C>T c.(370-372)Ctg>Ttg p.L124L ACSM2A_ENST00000396104.2_Silent_p.L124L|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Silent_p.L124L|ACSM2A_ENST00000424070.1_Silent_p.L124L|ACSM2A_ENST00000417235.2_Silent_p.L45L|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.L124L NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 124 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GCTGGTGATCCTGGGCTGCAT 0.582000 5 45 0 0 0.001168 0 0 TMEM225 338661 broad.mit.edu 37 11 123753867 123753867 + Missense_Mutation SNP C C T rs114749572 byFrequency TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr11:123753867C>T ENST00000375026.2 - 4 872 c.656G>A c.(655-657)cGt>cAt p.R219H NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 219 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 GGTTACGTGACGTGTTTGGAC 0.418000 8 93 0 0 0.006214 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003755 75003755 + Missense_Mutation SNP A A C TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chrX:75003755A>C ENST00000373359.2 - 1 1324 c.1132T>G c.(1132-1134)Tac>Gac p.Y378D NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 378 MAGE 2. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACAAGGAGGTAGATGTGCTCA 0.433000 24 157 0 0 0.002299 0 0 MYO7B 4648 broad.mit.edu 37 2 128341815 128341815 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr2:128341815C>T ENST00000389524.4 + 13 1515 c.1462C>T c.(1462-1464)Cac>Tac p.H488Y MYO7B_ENST00000428314.1_Missense_Mutation_p.H488Y|MYO7B_ENST00000409816.2_Missense_Mutation_p.H488Y Q6PIF6 MYO7B_HUMAN myosin VIIB 488 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGACTATATCCACTACACCGA 0.577000 14 77 0 0 0.003163 0 0 SCN10A 6336 broad.mit.edu 37 3 38755451 38755451 + Missense_Mutation SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr3:38755451G>A ENST00000449082.2 - 21 3801 c.3802C>T c.(3802-3804)Cgg>Tgg p.R1268W NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1268 sensory perception voltage-gated sodium channel complex p.R1268W(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AGACTTACCCGCATGCCTTCA 0.552000 22 93 0 0 0.003330 0 0 PCDHA2 0 broad.mit.edu 37 5 140176926 140176926 + Missense_Mutation SNP T T C TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr5:140176926T>C ENST00000526136.1 + 1 2377 c.2377T>C c.(2377-2379)Tac>Cac p.Y793H PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.Y793H|PCDHA2_ENST00000520672.2_Missense_Mutation_p.Y793H|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAATCAGAATACGTAGGAAA 0.403000 14 48 0 0 0.001855 0 0 SPDEF 25803 broad.mit.edu 37 6 34508917 34508917 + Silent SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr6:34508917G>A ENST00000374037.3 - 3 892 c.478C>T c.(478-480)Ctg>Ttg p.L160L SPDEF_ENST00000544425.1_Silent_p.L160L NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 160 PNT. negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 TCTGTCCACAGGAGCCACTTC 0.642000 7 9 0 0 0.004482 0 0 ZNF691 51058 broad.mit.edu 37 1 43317456 43317456 + Missense_Mutation SNP G G T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr1:43317456G>T ENST00000372504.1 + 5 1243 c.893G>T c.(892-894)gGc>gTc p.G298V ZNF691_ENST00000397044.3_Missense_Mutation_p.G307V|ZNF691_ENST00000372502.1_Missense_Mutation_p.G298V|ZNF691_ENST00000372506.1_Missense_Mutation_p.G276V|ZNF691_ENST00000372507.1_Missense_Mutation_p.G276V|ZNF691_ENST00000372508.3_Missense_Mutation_p.G276V Q5VV52 ZN691_HUMAN zinc finger protein 691 139 nucleus DNA binding|zinc ion binding large_intestine(2)|lung(2)|ovary(2)|prostate(1) 7 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACTCACTTGGGCGAACAGGCT 0.552000 6 52 0.00198382 0.00255062 0.001984 1 0 PRSS23 11098 broad.mit.edu 37 11 86519582 86519582 + Missense_Mutation SNP C C A rs150416218 TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr11:86519582C>A ENST00000280258.5 + 2 1322 c.897C>A c.(895-897)gaC>gaA p.D299E PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.D267E NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 299 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACGTCAAAGACGAGACCTATG 0.557000 15 114 3.52763e-06 4.63002e-06 0.004990 1 0 FARS2 10667 broad.mit.edu 37 6 5431389 5431389 + Silent SNP A A G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr6:5431389A>G ENST00000324331.6 + 4 1224 c.888A>G c.(886-888)caA>caG p.Q296Q FARS2_ENST00000274680.4_Silent_p.Q296Q O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 296 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) TGATGGAACAACAACTGGTCA 0.458000 20 112 0 0 0.008871 0 0 CROCCP2 0 broad.mit.edu 37 1 16956524 16956524 + RNA SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr1:16956524G>A ENST00000412962.1 - 0 294 GGACAAGACCGACGGCGCCAC 0.592000 7 29 0 0 0.001984 0 0 DSE 29940 broad.mit.edu 37 6 116758080 116758080 + Missense_Mutation SNP A A C TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr6:116758080A>C ENST00000331677.3 + 7 2893 c.2449A>C c.(2449-2451)Aaa>Caa p.K817Q DSE_ENST00000359564.2_Missense_Mutation_p.K817Q|DSE_ENST00000537543.1_Missense_Mutation_p.K836Q|DSE_ENST00000452085.3_Missense_Mutation_p.K817Q Q9UL01 DSE_HUMAN dermatan sulfate epimerase 817 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CAAACGCTATAAATTTGTGGA 0.423000 8 48 0 0 0.003080 0 0 CYP4F3 4051 broad.mit.edu 37 19 15763404 15763404 + Missense_Mutation SNP A A T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr19:15763404A>T ENST00000221307.7 + 8 992 c.944A>T c.(943-945)gAt>gTt p.D315V CYP4F3_ENST00000585846.1_Missense_Mutation_p.D315V|CYP4F3_ENST00000586182.1_Missense_Mutation_p.D315V|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Missense_Mutation_p.D315V NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 315 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 AAGTTGTCCGATGAGGACATA 0.522000 9 260 0 0 0.008291 0 0 PRLR 5618 broad.mit.edu 37 5 35065590 35065590 + Silent SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr5:35065590C>T ENST00000382002.5 - 10 1896 c.1470G>A c.(1468-1470)acG>acA p.T490T PRLR_ENST00000231423.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Silent_p.T389T|PRLR_ENST00000342362.5_Silent_p.T389T|PRLR_ENST00000310101.5_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 490 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity p.T490T(1) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GCAGCCAGGGCGTATCCTGGT 0.483000 25 121 0 0 0.003954 0 0 ITIH6 347365 broad.mit.edu 37 X 54785300 54785300 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chrX:54785300C>T ENST00000218436.6 - 8 1236 c.1207G>A c.(1207-1209)Ggc>Agc p.G403S NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 403 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.G403S(1) GTCGTCACGCCGGCCGTGGGC 0.597000 12 33 0 0 0.001368 0 0 ZNF276 92822 broad.mit.edu 37 16 89804475 89804475 + Missense_Mutation SNP T T A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr16:89804475T>A ENST00000289816.5 + 11 1753 c.1441T>A c.(1441-1443)Tgt>Agt p.C481S ZNF276_ENST00000446326.2_Missense_Mutation_p.C342S|ZNF276_ENST00000443381.2_Missense_Mutation_p.C556S|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_3'UTR NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) GGACTTTGCCTGTGACCAGTG 0.597000 11 44 0 0 0.008291 0 0 AJ271736.10 0 broad.mit.edu 37 X 155254994 155254994 + RNA SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chrX:155254994G>A ENST00000285718.7 + 0 1299 WASH6P_ENST00000461007.1_RNA TGCCCCCACCGCAACAGCCAC 0.637000 4 26 0 0 0.000248 0 0 YBX2 51087 broad.mit.edu 37 17 7193769 7193769 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr17:7193769C>T ENST00000007699.5 - 5 608 c.545G>A c.(544-546)cGa>cAa p.R182Q YBX2_ENST00000570627.1_5'UTR NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 182 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 GGGGATGAATCGGCGGGACTT 0.642000 4 81 0 0 0.000602 0 0 ABCA13 154664 broad.mit.edu 37 7 48320993 48320993 + Missense_Mutation SNP T T C TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr7:48320993T>C ENST00000435803.1 + 19 8804 c.8780T>C c.(8779-8781)aTg>aCg p.M2927T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2927 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCAGAAGCCATGGAGATGCTG 0.438000 4 25 0 0 0.000248 0 0 MUC17 140453 broad.mit.edu 37 7 100679593 100679593 + Silent SNP A A G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr7:100679593A>G ENST00000306151.4 + 3 4960 c.4896A>G c.(4894-4896)ctA>ctG p.L1632L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1632 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGTCCTCTATTAACAAGTA 0.493000 64 557 0 0 0.003610 0 0 IRX6 79190 broad.mit.edu 37 16 55361633 55361633 + Silent SNP C C G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr16:55361633C>G ENST00000290552.7 + 4 1881 c.549C>G c.(547-549)gcC>gcG p.A183A RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 183 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 TCATGCTGGCCATCATCACCA 0.572000 21 103 0 0 0.001523 0 0 TMEM47 83604 broad.mit.edu 37 X 34648526 34648526 + Missense_Mutation SNP G G T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chrX:34648526G>T ENST00000275954.3 - 3 708 c.450C>A c.(448-450)aaC>aaA p.N150K NM_031442.3 NP_113630.1 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 150 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CATAACCCCAGTTGAACTCAT 0.428000 21 115 3.62473e-10 4.91093e-10 0.001882 1 0 CENPJ 55835 broad.mit.edu 37 13 25479612 25479612 + Missense_Mutation SNP C C G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr13:25479612C>G ENST00000381884.4 - 7 2749 c.2564G>C c.(2563-2565)aGg>aCg p.R855T CENPJ_ENST00000545981.1_Missense_Mutation_p.R855T NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 855 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TCTGCTCCTCCTGGACTTGCT 0.428000 11 67 0 0 0.008291 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872726 51872726 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr20:51872726C>T ENST00000371497.5 + 2 3616 c.2729C>T c.(2728-2730)aCg>aTg p.T910M RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.T907M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.T907M NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 910 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CTTAGGAAAACGGGCGGGACA 0.488000 7 65 0 0 0.004482 0 0 ANXA1 301 broad.mit.edu 37 9 75783993 75783993 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr9:75783993C>T ENST00000376911.1 + 11 1789 c.907C>T c.(907-909)Cgt>Tgt p.R303C ANXA1_ENST00000257497.6_Missense_Mutation_p.R303C|ANXA1_ENST00000491192.1_3'UTR P04083 ANXA1_HUMAN annexin A1 303 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity p.R303S(1) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) TATGGTTTCCCGTTCTGAAAT 0.388000 29 126 0 0 0.006320 0 0 DUOX2 50506 broad.mit.edu 37 15 45389890 45389890 + Silent SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr15:45389890G>A ENST00000389039.6 - 28 4000 c.3615C>T c.(3613-3615)ttC>ttT p.F1205F DUOX2_ENST00000603300.1_Silent_p.F1205F Q9NRD8 DUOX2_HUMAN dual oxidase 2 1205 Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GGTGGGAGGCGAAGACATACA 0.617000 28 83 0 0 0.007291 0 0 FAM47B 170062 broad.mit.edu 37 X 34962764 34962764 + Missense_Mutation SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chrX:34962764G>A ENST00000329357.5 + 1 1852 c.1816G>A c.(1816-1818)Gtc>Atc p.V606I NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 606 p.V606I(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AATGCCTGGCGTCATTGAAAA 0.438000 51 233 0 0 0.003610 0 0 PLXNA3 55558 broad.mit.edu 37 X 153698493 153698493 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chrX:153698493C>T ENST00000369682.3 + 29 5144 c.4969C>T c.(4969-4971)Cgg>Tgg p.R1657W PLXNA3_ENST00000493546.1_3'UTR NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1657 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTACCTGACACGGCTGCTGGC 0.617000 9 48 0 0 0.006214 0 0 SNX29 92017 broad.mit.edu 37 16 12571690 12571690 + Missense_Mutation SNP C C G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr16:12571690C>G ENST00000566228.1 + 19 2221 c.2152C>G c.(2152-2154)Cca>Gca p.P718A SNX29_ENST00000306030.3_Missense_Mutation_p.P333A|SNX29_ENST00000323433.4_Missense_Mutation_p.P333A NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 333 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 CTACAACTTCCCACCCAAAAA 0.438000 6 36 0 0 0.001984 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803596 142803596 + RNA SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr1:142803596C>T ENST00000423385.1 - 0 1369 ATTATGTTAACTAAGAAAATA 0.289000 6 63 0 0 0.001168 0 0 C2 717 broad.mit.edu 37 6 31912793 31912793 + Missense_Mutation SNP T T A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr6:31912793T>A ENST00000299367.5 + 17 2342 c.2066T>A c.(2065-2067)tTc>tAc p.F689Y C2_ENST00000452323.2_Missense_Mutation_p.F475Y|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.F443Y|CFB_ENST00000477310.1_Intron|C2_ENST00000468407.1_3'UTR|C2_ENST00000442278.2_Missense_Mutation_p.F557Y|CFB_ENST00000556679.1_Intron NM_000063.4 NP_000054.2 complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) GAGCGGAGATTCAGGTTTTTT 0.547000 38 152 0 0 0.006999 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57989740 57989740 + Missense_Mutation SNP C C T rs144510690 TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr12:57989740C>T ENST00000354947.5 + 4 455 c.439C>T c.(439-441)Cgg>Tgg p.R147W PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R129W|PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R147W Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 147 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) CTCCTACGATCGGACTCTGGT 0.522000 25 111 0 0 0.003954 0 0 IL1RL1 9173 broad.mit.edu 37 2 102957203 102957203 + Silent SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr2:102957203C>T ENST00000311734.2 + 5 864 c.525C>T c.(523-525)gaC>gaT p.D175D IL1RL1_ENST00000409584.1_Silent_p.D175D|IL1RL1_ENST00000404917.2_Silent_p.D58D|IL1RL1_ENST00000393393.3_Silent_p.D175D|IL1RL1_ENST00000233954.1_Silent_p.D175D Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 175 Ig-like C2-type 2. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TGACTGAGGACGCAGGTGATT 0.423000 21 89 0 0 0.002780 0 0 NF1 4763 broad.mit.edu 37 17 29553568 29553568 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr17:29553568C>T ENST00000358273.4 + 18 2500 c.2117C>T c.(2116-2118)gCc>gTc p.A706V NF1_ENST00000356175.3_Missense_Mutation_p.A706V NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 706 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GTTCTGGTTGCCATGTCCTGT 0.527000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 6 161 0 0 0.000978 0 0 CHST10 9486 broad.mit.edu 37 2 101009737 101009737 + Silent SNP C C A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr2:101009737C>A ENST00000264249.3 - 7 1426 c.1041G>T c.(1039-1041)ggG>ggT p.G347G CHST10_ENST00000542617.1_Silent_p.G395G|CHST10_ENST00000409701.1_Silent_p.G347G NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 347 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 GTTTCTGGTACCCAAAGAGCT 0.448000 14 101 6.49762e-13 8.89891e-13 0.006122 1 0 ACACB 32 broad.mit.edu 37 12 109625810 109625810 + Missense_Mutation SNP A A G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr12:109625810A>G ENST00000338432.7 + 13 2106 c.1987A>G c.(1987-1989)Aag>Gag p.K663E ACACB_ENST00000377848.3_Missense_Mutation_p.K663E|ACACB_ENST00000377854.5_Missense_Mutation_p.K663E O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 663 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CCAGGGTTTTAAGCCGAGCTC 0.498000 3 82 0 0 0.004672 0 0 LRFN5 145581 broad.mit.edu 37 14 42355895 42355895 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr14:42355895C>T ENST00000554171.1 + 5 2499 c.67C>T c.(67-69)Cgt>Tgt p.R23C LRFN5_ENST00000298119.4_Missense_Mutation_p.R23C|LRFN5_ENST00000554120.1_Missense_Mutation_p.R23C Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 23 LRRNT. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTGTCCAAAGCGTTGTGTCTG 0.398000 HNSCC(30;0.082) 5 35 0 0 0.001168 0 0 FLNC 2318 broad.mit.edu 37 7 128489530 128489530 + Silent SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr7:128489530C>T ENST00000325888.8 + 30 5358 c.5097C>T c.(5095-5097)gaC>gaT p.D1699D FLNC_ENST00000346177.6_Silent_p.D1699D NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1699 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 AGAACCATGACGGTACCTTTG 0.612000 10 88 0 0 0.000978 0 0 KMT2E 55904 broad.mit.edu 37 7 104753522 104753522 + Silent SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr7:104753522G>A ENST00000334877.4 + 26 5727 c.5193G>A c.(5191-5193)ccG>ccA p.P1731P SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Silent_p.P1773P|KMT2E_ENST00000311117.3_Silent_p.P1773P lysine (K)-specific methyltransferase 2E CTTTGGGACCGGGACCCCAGC 0.532000 40 206 0 0 0.002852 0 0 ZNF812 729648 broad.mit.edu 37 19 9801841 9801841 + Missense_Mutation SNP A A G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr19:9801841A>G ENST00000457674.2 - 5 856 c.338T>C c.(337-339)aTc>aCc p.I113T ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 113 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ACCCTCAAAGATGTTCCCTCC 0.418000 3 83 0 0 0.004672 0 0 USP6 9098 broad.mit.edu 37 17 5072170 5072170 + Nonsense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr17:5072170C>T ENST00000574788.1 + 35 5567 c.3337C>T c.(3337-3339)Cga>Tga p.R1113* USP6_ENST00000304328.5_Nonsense_Mutation_p.R796*|USP6_ENST00000250066.6_Nonsense_Mutation_p.R1113*|USP6_ENST00000332776.4_3'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 1113 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TTTGGTACCACGAGACCCGGC 0.473000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 43 211 0 0 0.002852 0 0 TTN 7273 broad.mit.edu 37 2 179396156 179396156 + Silent SNP A A G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr2:179396156A>G ENST00000589042.1 - 358 105410 c.105186T>C c.(105184-105186)taT>taC p.Y35062Y TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.Y33421Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Silent_p.Y26122Y|TTN_ENST00000342992.6_Silent_p.Y32494Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Silent_p.Y25997Y|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342175.6_Silent_p.Y26189Y|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33421 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGAAACAGCATACGCCTCTG 0.473000 33 120 0 0 0.002445 0 0 PCDHA1 0 broad.mit.edu 37 5 140166068 140166068 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr5:140166068C>T ENST00000504120.2 + 1 193 c.193C>T c.(193-195)Cgg>Tgg p.R65W PCDHA1_ENST00000378133.3_Missense_Mutation_p.R65W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R65W NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCCTGTTCCGGGTGGCGTC 0.587000 30 119 0 0 0.002096 0 0 SRBD1 55133 broad.mit.edu 37 2 45616592 45616592 + Nonsense_Mutation SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr2:45616592G>A ENST00000263736.4 - 21 2907 c.2845C>T c.(2845-2847)Cga>Tga p.R949* SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Nonsense_Mutation_p.R468* NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 949 S1 motif. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GTTACATTTCGTATGGGAATC 0.433000 15 65 0 0 0.003163 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724284 38724284 + Missense_Mutation SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr14:38724284G>A ENST00000342213.2 - 1 1290 c.944C>T c.(943-945)cCg>cTg p.P315L NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 315 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) TGTTCTCTGCGGCACGGGGCT 0.617000 21 123 0 0 0.002780 0 0 TLN1 7094 broad.mit.edu 37 9 35717307 35717307 + Missense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr9:35717307C>T ENST00000314888.9 - 19 2647 c.2294G>A c.(2293-2295)cGa>cAa p.R765Q TLN1_ENST00000540444.1_Missense_Mutation_p.R765Q NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 765 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCCTACCCCTCGCAACAGTTG 0.617000 29 108 0 0 0.002096 0 0 ANKRD18DP 0 broad.mit.edu 37 3 197803763 197803763 + RNA SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr3:197803763G>A ENST00000435620.2 - 0 591 NR_003291.1 CAGTGTTGCCGTAGACATCCT 0.458000 4 27 0 0 0.000248 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 6 98 0 0 0.001168 0 0 UTP20 27340 broad.mit.edu 37 12 101750464 101750464 + Missense_Mutation SNP C C G TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr12:101750464C>G ENST00000261637.4 + 42 5701 c.5527C>G c.(5527-5529)Ctg>Gtg p.L1843V NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1843 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GGAAGCTAATCTGCCAAGGTA 0.363000 3 26 0 0 0.000248 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 64 0 0 0.000248 0 0 TDRD6 221400 broad.mit.edu 37 6 46655895 46655895 + Silent SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr6:46655895G>A ENST00000544460.1 + 1 284 c.30G>A c.(28-30)ccG>ccA p.P10P TDRD6_ENST00000316081.6_Silent_p.P10P|RP11-446F17.3_ENST00000434329.2_RNA NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 10 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TGCCGGCGCCGGGGGCCTCGC 0.721000 3 7 0 0 0.004672 0 0 TNFRSF9 3604 broad.mit.edu 37 1 7980912 7980914 + In_Frame_Del DEL CTT CTT - TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr1:7980912_7980914delCTT ENST00000377507.3 - 8 915_917 c.749_751delAAG c.(748-753)gga>g p.EG250del NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 250 Interaction with LRR-1. E -> G (in a colorectal cancer sample; somatic mutation). induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity p.E250G(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) TCACATCCTCCTTCTTCTTCTTC 0.379 7 264 --- --- --- --- HSPD1P6 0 broad.mit.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr3:36810381delT ENST00000424886.1 - 0 405 GAGTGAGGCCttttttttttt 0.542 2 4 --- --- --- --- MUC20 200958 broad.mit.edu 37 3 195447912 195447914 + In_Frame_Del DEL TTC TTC - TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr3:195447912_195447914delTTC ENST00000320736.6 + 1 160_162 c.34_36delTTC c.(34-36)del p.F14del MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000447234.2_In_Frame_Del_p.F14del|MUC20_ENST00000436408.1_In_Frame_Del_p.F14del NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 14 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TCTGCCCCTTTTCTTCTTCTGCT 0.611 5 4 --- --- --- --- AKIP1 56672 broad.mit.edu 37 11 8940912 8940912 + Frame_Shift_Del DEL T T - TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr11:8940912delT ENST00000309377.4 + 6 608 c.518delT c.(517-519)aafs p.I173fs AKIP1_ENST00000309357.4_Frame_Shift_Del_p.I146fs|AKIP1_ENST00000396648.2_Frame_Shift_Del_p.I146fs|AKIP1_ENST00000534147.1_Frame_Shift_Del_p.I173fs|AKIP1_ENST00000299576.5_Frame_Shift_Del_p.I146fs NM_020642.3 NP_065693.2 Q9NQ31 AKIP1_HUMAN A kinase (PRKA) interacting protein 1 173 nucleus protein binding kidney(1)|large_intestine(2)|lung(2) 5 GACCTCTACATAGAAGTATAT 0.468 30 118 --- --- --- --- PHF21A 51317 broad.mit.edu 37 11 46098353 46098356 + Frame_Shift_Del DEL TTTC TTTC - TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr11:46098353_46098356delTTTC ENST00000257821.4 - 5 725_728 c.102_105delGAAA c.(100-105)aafs p.KK34fs PHF21A_ENST00000418153.2_Frame_Shift_Del_p.KK34fs|PHF21A_ENST00000323180.6_Frame_Shift_Del_p.KK34fs NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 34 Gln-rich. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 CATGAAGCTGTTTCTTTAAGTCAG 0.368 10 82 --- --- --- --- CRYL1 51084 broad.mit.edu 37 13 21013857 21013859 + In_Frame_Del DEL TCT TCT - TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr13:21013857_21013859delTCT ENST00000382812.1 - 5 473_475 c.245_247delAGA c.(244-249)att>a p.KI82del CRYL1_ENST00000298248.7_In_Frame_Del_p.KI104del|CRYL1_ENST00000480748.1_5'UTR Q9Y2S2 CRYL1_HUMAN crystallin, lambda 1 104 fatty acid metabolic process cytosol 3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244) all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061) TGAGCAAAAATCTTCTTCTTCAG 0.419 12 67 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48955530 48955533 + Frame_Shift_Del DEL ATTT ATTT - TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chr13:48955530_48955533delATTT ENST00000267163.4 + 17 1784_1787 c.1646_1649delATTT c.(1645-1650)cafs p.HL549fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 549 Domain A.|Pocket; binds T and E1A. H -> Y (in RB). androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATGATAAAACATTTAGAACGATGT 0.328 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 9 36 --- --- --- --- F8 2157 broad.mit.edu 37 X 154159063 154159063 + Frame_Shift_Del DEL G G - TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f93c396-7e42-4ae7-b954-028d5214671d 3a55f162-2e11-46f9-8c0a-4a1f473997ff g.chrX:154159063delG ENST00000360256.4 - 14 3202 c.3002delC c.(3001-3003)gtfs p.A1001fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1001 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGTCAACAAAGCAGGTCCATG 0.343 26 135 --- --- --- ---