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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut SYNJ1 8867 broad.mit.edu 37 21 34029011 34029011 + Missense_Mutation SNP T G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr21:34029011T>G uc002yqh.2 - 20 2898 c.2898A>C c.(2896-2898)gaA>gaC p.E966D SYNJ1_uc011ads.1_Missense_Mutation_p.E922D|SYNJ1_uc002yqf.2_Missense_Mutation_p.E927D|SYNJ1_uc002yqg.2_Missense_Mutation_p.E922D|SYNJ1_uc002yqi.2_Missense_Mutation_p.E966D NM_003895 NP_003886 O43426 SYNJ1_HUMAN Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA. 927 Pro-rich.|RRM. RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TAAGTATAACTTCACCAAAAC 0.318000 18 13 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93699825 93699825 + Splice_Site SNP T A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr10:93699825T>A uc001khr.3 + 3 351 c.253_splice c.e3+2 p.E85_splice BTAF1_uc009xua.1_Splice_Site NM_003972 NP_003963 O14981 BTAF1_HUMAN Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA. 85 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) CCAGACAAGGTGCTTTTAAGT 0.348000 18 18 0 0 1 0 0 ASAP3 55616 broad.mit.edu 37 1 23762469 23762469 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr1:23762469G>A uc001bha.2 - 16 1748 c.1624C>T c.(1624-1626)Cgc>Tgc p.R542C ASAP3_uc001bgy.1_Missense_Mutation_p.R46C|ASAP3_uc010odz.1_Missense_Mutation_p.R411C|ASAP3_uc010oea.1_Missense_Mutation_p.R533C NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA. 542 Arf-GAP. regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 GTGCACCGGCGTGCAAACCTA 0.567000 78 50 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112512562 112512562 + Missense_Mutation SNP A C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr12:112512562A>C uc001ttm.3 - 8 841 c.783T>G c.(781-783)gaT>gaG p.D261E NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.D233E|NAA25_uc009zwa.2_Missense_Mutation_p.D261E NM_024953 NP_079229 Q14CX7 NAA25_HUMAN Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA. 261 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 ACTGCCAGTCATCTGAGCTAA 0.388000 53 39 0 0 1 0 0 IFNA13 3447 broad.mit.edu 37 9 21367998 21367998 + Silent SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr9:21367998C>T uc003zpa.2 - 0 78 c.12G>A c.(10-12)tcG>tcA p.S4S NM_006900 NP_008831 P01562 IFNA1_HUMAN Homo sapiens interferon, alpha 13 (IFNA13), mRNA. 3 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) AAGCAAAGGGCGAGGCCATCA 0.542000 59 40 0 0 1 0 0 TMCO3 55002 broad.mit.edu 37 13 114193672 114193672 + Splice_Site SNP G C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr13:114193672G>C uc001vtu.4 + 10 1901 c.1540_splice c.e10-1 p.V514_splice NM_017905 NP_060375 Q6UWJ1 TMCO3_HUMAN Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA. 514 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) CCTCTCTCAGGTCACGGAGCT 0.647000 39 30 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168107974 168107974 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr2:168107974G>A uc002udx.3 + 8 10161 c.10072G>A c.(10072-10074)Gga>Aga p.G3358R XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G3183R|XIRP2_uc010fpq.3_Missense_Mutation_p.G3136R|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 3183 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTATGCAAAGGGAGAAACAAA 0.358000 84 37 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48311414 48311414 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr7:48311414G>A uc003toq.2 + 16 2175 c.2151G>A c.(2149-2151)atG>atA p.M717I ABCA13_uc010kyr.2_Missense_Mutation_p.M220I|ABCA13_uc022acp.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 717 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 ACCTTCTAATGATGGAAAAGA 0.254000 6 4 0 0 1 0 0 C11orf42 160298 broad.mit.edu 37 11 6231215 6231215 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr11:6231215G>A uc001mcj.3 + 1 256 c.208G>A c.(208-210)Ggc>Agc p.G70S NM_173525 NP_775796 Q8N5U0 CK042_HUMAN Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA. 70 endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGTCGGCAGGGCCGGAGGGC 0.607000 36 29 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33635349 33635349 + Missense_Mutation SNP G T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr13:33635349G>T uc001uus.3 + 3 2141 c.2133G>T c.(2131-2133)tgG>tgT p.W711C KL_uc001uur.1_3'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 711 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CCCTGGCTTGGCATGTGTACA 0.478000 47 29 3.65163e-15 3.80221e-15 1 1 0 KCNA2 3737 broad.mit.edu 37 1 111146526 111146526 + Silent SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr1:111146526G>A uc021oro.1 - 0 879 c.879C>T c.(877-879)ctC>ctT p.L293L KCNA2_uc009wfv.2_Silent_p.L293L|KCNA2_uc009wfw.3_Silent_p.L293L NM_004974 NP_004965 P16389 KCNA2_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA. 293 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) GGATGACACGGAGGATGGCCA 0.537000 59 53 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26890037 26890037 + Missense_Mutation SNP C A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr5:26890037C>A uc003jgs.1 - 8 1589 c.1420G>T c.(1420-1422)Gtc>Ttc p.V474F CDH9_uc011cnv.1_Missense_Mutation_p.V67F NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 474 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CTGATGAAGACAGGGATGTGG 0.383000 199 35 9.80977e-26 1.06536e-25 1 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32891125 32891125 + Missense_Mutation SNP A C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr16:32891125A>C uc002edh.1 - 1 181 c.5T>G c.(4-6)gTg>gGg p.V2G SLC6A10P_uc002edi.1_Intron Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA. CACATCAGTCACCATGGAGAG 0.582000 147 27 0 0 1 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070687 141070687 + Nonsense_Mutation SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr9:141070687C>T uc010ncq.3 + 4 1462 c.622C>T c.(622-624)Caa>Taa p.Q208* Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA. ACAACTGGGCCAAGGGACGCT 0.577000 0 3 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45387215 45387215 + Missense_Mutation SNP C G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr15:45387215C>G uc001zun.3 - 31 4517 c.4314G>C c.(4312-4314)gaG>gaC p.E1438D DUOX2_uc010bea.3_Missense_Mutation_p.E1438D NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1438 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 NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|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) GGTGGTCGTTCTCCTCCACCT 0.572000 8 29 0 0 1 0 0 FZD5 7855 broad.mit.edu 37 2 208632890 208632890 + Missense_Mutation SNP A C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr2:208632890A>C uc021vvr.1 - 0 574 c.574T>G c.(574-576)Tgt>Ggt p.C192G FZD5_uc002vcj.3_Missense_Mutation_p.C192G NM_003468 NP_003459 Q13467 FZD5_HUMAN Homo sapiens frizzled family receptor 5 (FZD5), mRNA. 192 Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) GGCTCGCGACACTTGCACACG 0.706000 14 5 0 0 1 0 0 SDHAP2 727956 broad.mit.edu 37 3 195410687 195410687 + Missense_Mutation SNP T A A rs6583274 by1000genomes TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr3:195410687T>A uc003fuw.3 + 12 1778 c.584T>A c.(583-585)gTg>gAg p.V195E SDHAP2_uc003fuv.3_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA. CCCTTTGAGGTGCACTGGAGG 0.567000 21 3 0 0 1 0 0 FMO4 2329 broad.mit.edu 37 1 171303595 171303595 + Silent SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr1:171303595C>T uc001gho.3 + 7 1090 c.873C>T c.(871-873)atC>atT p.I291I NM_002022 NP_002013 P31512 FMO4_HUMAN Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA. 291 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CAAACTGTATCCTCTGTGGGG 0.373000 40 28 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14806720 14806720 + Silent SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr9:14806720G>A uc003zlm.3 - 18 4029 c.3213C>T c.(3211-3213)ggC>ggT p.G1071G FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1071 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTTCGAGGTAGCCAAACTGAG 0.453000 7 6 0 0 1 0 0 EXO1 9156 broad.mit.edu 37 1 242013869 242013869 + Missense_Mutation SNP A G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr1:242013869A>G uc021plj.1 + 1 456 c.142A>G c.(142-144)Aaa>Gaa p.K48E EXO1_uc001hzh.3_Missense_Mutation_p.K48E|EXO1_uc009xgq.3_Missense_Mutation_p.K48E|EXO1_uc021plk.1_Missense_Mutation_p.K48E NM_006027 NP_569082 Q9UQ84 EXO1_HUMAN Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA. 48 N-domain. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) AAAACTAGCCAAAGGTGAACC 0.418000 Editing and processing nucleases 84 6 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266137 41266137 + Missense_Mutation SNP C T T rs121913409 TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr3:41266137C>T uc010hia.1 + 3 290 c.134C>T c.(133-135)tCt>tTt p.S45F CTNNB1_uc003ckq.2_Missense_Mutation_p.S45F|CTNNB1_uc003ckp.2_Missense_Mutation_p.S45F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S45F|CTNNB1_uc011azf.1_Missense_Mutation_p.S38F|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript NM_001904 NP_001895 P35222 CTNB1_HUMAN Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA. 45 Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma). Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S45F(830)|p.S45P(194)|p.S45del(137)|p.A5_A80del(119)|p.S45Y(43)|p.S45C(42)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.S45A(12)|p.Q28_H134del(10)|p.H24_S47del(9)|p.P44A(9)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.S45_S47>C(4)|p.P44_S45del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.P44S(4)|p.P44L(3)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.P44_N51del(2)|p.V22_T102del(2)|p.S45fs*2(2)|p.S45E(2)|p.A21_A80del(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.T42_G48del(2)|p.S45_G48del(2)|p.V22_L139>V(2)|p.T42_K49>Q(2)|p.S45_D58del(2)|p.P16_K133del(2)|p.T40_L46del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.S45_L46del(2)|p.T41_N51del(2)|p.A5_E54del(2)|p.V22_S71>A(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.P44del(1)|p.A20_Q143del(1)|p.A43_E53del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.S45T(1)|p.V22_A97del(1)|p.S45S(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.P44_S45insAP(1)|p.W25_A80del(1)|p.A5_R90del(1)|p.P44_S45>AP(1)|p.P44_S45insGATTTAP(1)|p.E9_I140del(1)|p.S45_E54del(1)|p.A43_E54del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) ACAGCTCCTTCTCTGAGTGGT 0.498000 S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 23 20 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1079596 1079596 + Nonsense_Mutation SNP G C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr5:1079596G>C uc003jbu.3 - 9 1379 c.1313C>G c.(1312-1314)tCa>tGa p.S438* NM_006598 NP_006589 Q9Y666 S12A7_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA. 438 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GGACCGGTTTGAACCCGCCAT 0.562000 201 21 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51888783 51888783 + Missense_Mutation SNP A C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr12:51888783A>C uc001rys.1 + 20 3002 c.2824A>C c.(2824-2826)Atc>Ctc p.I942L SLC4A8_uc001rym.3_Missense_Mutation_p.I889L|SLC4A8_uc001ryn.3_Missense_Mutation_p.I889L|SLC4A8_uc001ryo.2_Missense_Mutation_p.I889L|SLC4A8_uc010snj.2_Missense_Mutation_p.I969L|SLC4A8_uc001ryr.3_Missense_Mutation_p.I942L NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA. 942 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity p.I942I(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GCCAGATTTCATCTACCTGCG 0.527000 54 35 0 0 1 0 0 SLC40A1 30061 broad.mit.edu 37 2 190444550 190444550 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr2:190444550G>A uc002uqp.4 - 1 451 c.100C>T c.(100-102)Ctc>Ttc p.L34F SLC40A1_uc002uqr.1_Non-coding_Transcript|SLC40A1_uc002uqs.1_Non-coding_Transcript|SLC40A1_uc002uqq.2_Missense_Mutation_p.L34F|SLC40A1_uc010zfx.1_Non-coding_Transcript NM_014585 NP_055400 Q9NP59 S40A1_HUMAN Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA. 34 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CAAGTAGAGAGAGAATGACCA 0.443000 37 26 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31437519 31437519 + Splice_Site SNP A C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr1:31437519A>C uc001bsi.1 - 14 2436 c.2323_splice c.e14+1 p.G775_splice PUM1_uc001bsf.1_Splice_Site_p.G441_splice|PUM1_uc001bsh.1_Splice_Site_p.G775_splice|PUM1_uc001bsj.1_Splice_Site_p.G749_splice|PUM1_uc010oga.1_Splice_Site_p.G631_splice|PUM1_uc001bsk.1_Splice_Site_p.G811_splice|PUM1_uc010ogb.1_Splice_Site_p.G716_splice NM_014676 NP_055491 Q14671 PUM1_HUMAN Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA. 775 Ser-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) AATGGTTCTTACCCAGGTTTA 0.478000 114 107 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55594221 55594221 + Missense_Mutation SNP A G G rs121913512 TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr4:55594221A>G uc010igr.3 + 12 2011 c.1924A>G c.(1924-1926)Aaa>Gaa p.K642E KIT_uc010igs.3_Missense_Mutation_p.K638E|KIT_uc010igt.2_Missense_Mutation_p.K91E NM_000222 NP_000213 P10721 KIT_HUMAN Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA. 642 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.K642E(100)|p.K642Q(2) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTCTGAACTCAAAGTCCTGAG 0.438000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 57 56 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73657119 73657119 + Missense_Mutation SNP A C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr17:73657119A>C uc010dgl.3 - 5 1111 c.902T>G c.(901-903)gTg>gGg p.V301G RECQL5_uc010dgk.3_Missense_Mutation_p.V274G|RECQL5_uc002joz.4_Missense_Mutation_p.V301G|RECQL5_uc002jpa.4_Missense_Mutation_p.V301G|RECQL5_uc002jpb.2_Missense_Mutation_p.V301G NM_004259 NP_004250 O94762 RECQ5_HUMAN Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA. 301 Helicase C-terminal. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GTCGTTCTGCACCAGCGTTCT 0.498000 Other identified genes with known or suspected DNA repair function 121 8 0 0 1 0 0 CELA2A 63036 broad.mit.edu 37 1 15793953 15793953 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr1:15793953G>A uc001awk.3 + 6 738 c.712G>A c.(712-714)Ggg>Agg p.G238R NM_033440 NP_254275 P08217 CEL2A_HUMAN Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA. 238 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 CGTCAGCTTCGGGTCTCGCCT 0.602000 29 36 0 0 1 0 0 OR52D1 390066 broad.mit.edu 37 11 5510842 5510842 + Missense_Mutation SNP G T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr11:5510842G>T uc010qzg.2 + 0 928 c.906G>T c.(904-906)gaG>gaT p.E302D HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAACCAAGGAGATTCGGAGTC 0.448000 43 30 6.07407e-21 6.5264e-21 1 1 0 CFH 3075 broad.mit.edu 37 1 196876133 196876133 + Silent SNP T G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr1:196876133T>G uc001gtp.3 + 3 719 c.582T>G c.(580-582)ggT>ggG p.G194G CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.G193G|CFH_uc001gto.3_Intron NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 554 Sushi 3. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TAGTGTGTGGTGAAGATGGCT 0.343000 13 12 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999873 72999873 + Silent SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr18:72999873C>T uc002lly.3 + 1 2939 c.2376C>T c.(2374-2376)ctC>ctT p.L792L TSHZ1_uc021uln.1_Silent_p.L792L NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 837 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AGAGCGCACTCATGGACATCT 0.572000 51 24 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30674488 30674488 + Missense_Mutation SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr20:30674488C>T uc002wxh.3 + 8 1130 c.893C>T c.(892-894)tCg>tTg p.S298L HCK_uc010gdy.3_Missense_Mutation_p.S278L|HCK_uc021wbv.1_Missense_Mutation_p.S277L|HCK_uc002wxi.3_Missense_Mutation_p.S276L NM_001172133 NP_001165604 P08631 HCK_HUMAN Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA. 298 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGAGCATGTCGGTGGAGGCC 0.567000 16 19 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68160464 68160464 + Missense_Mutation SNP G T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr16:68160464G>T uc002evo.2 + 2 1668 c.1352G>T c.(1351-1353)gGt>gTt p.G451V NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.G451V|NFATC3_uc002evm.2_Missense_Mutation_p.G451V|NFATC3_uc002evn.2_Missense_Mutation_p.G451V|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA. 451 RHD. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding p.G451R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) GAAACTGAAGGTAGCCGAGGG 0.448000 49 34 1.60099e-16 1.68437e-16 1 1 0 CYTH4 27128 broad.mit.edu 37 22 37692046 37692046 + Missense_Mutation SNP G T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr22:37692046G>T uc003arf.3 + 3 290 c.174G>T c.(172-174)atG>atT p.M58I CYTH4_uc003ard.4_Missense_Mutation_p.M58I|CYTH4_uc003are.2_Missense_Mutation_p.M58I|CYTH4_uc011amw.2_Missense_Mutation_p.M1I NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN Homo sapiens cytohesin 4 (CYTH4), mRNA. 58 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 ACAGCCGGATGGCCCAGAAGG 0.632000 13 8 0.00307968 0.00314189 1 1 0 SDHAP2 727956 broad.mit.edu 37 3 195410689 195410689 + Missense_Mutation SNP C T T rs6583275 by1000genomes TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr3:195410689C>T uc003fuw.3 + 12 1780 c.586C>T c.(586-588)Cac>Tac p.H196Y SDHAP2_uc003fuv.3_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA. CTTTGAGGTGCACTGGAGGAA 0.567000 21 3 0 0 1 0 0 NKX6-3 157848 broad.mit.edu 37 8 41504731 41504731 + Silent SNP T G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr8:41504731T>G uc010lxa.1 - 1 167 c.144A>C c.(142-144)gcA>gcC p.A48A NKX6-3_uc003xoa.2_Silent_p.A48A NM_152568 NP_689781 A6NJ46 NKX63_HUMAN Homo sapiens NK6 homeobox 3 (NKX6-3), mRNA. 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CAGAAAGACATGCAGGAGTGT 0.572000 1 5 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428079 10428079 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr17:10428079G>A uc010coi.3 - 33 5094 c.4966C>T c.(4966-4968)Ctc>Ttc p.L1656F AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.L1656F|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1656 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTTACCTTGAGGATGCCTTGG 0.502000 66 67 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534850 55534850 + Splice_Site SNP T G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr8:55534850T>G uc003xsd.1 + 3 935 c.787_splice c.e3+2 p.I263_splice RP1_uc011ldy.1_Splice_Site_p.S263_splice NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 263 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GCAGAAAGAGTAAGTCACTTA 0.403000 45 24 0 0 1 0 0 LMF1 64788 broad.mit.edu 37 16 919893 919893 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr16:919893G>A uc021tae.1 - 8 1410 c.1406C>T c.(1405-1407)gCg>gTg p.A469V LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Missense_Mutation_p.A252V|LMF1_uc021tad.1_Missense_Mutation_p.A300V|LMF1_uc010bri.2_Missense_Mutation_p.A232V|LMF1_uc002ckk.2_Missense_Mutation_p.A252V NM_022773 NP_073610 Q96S06 LMF1_HUMAN Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA. 469 endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 18 Hepatocellular(780;0.00308) CTGGAAGGCCGCGAACCACAT 0.632000 10 15 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266125 41266125 + Missense_Mutation SNP C T T rs121913413 TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr3:41266125C>T uc010hia.1 + 3 278 c.122C>T c.(121-123)aCc>aTc p.T41I CTNNB1_uc003ckq.2_Missense_Mutation_p.T41I|CTNNB1_uc003ckp.2_Missense_Mutation_p.T41I|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41I|CTNNB1_uc011azf.1_Missense_Mutation_p.T34I|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript NM_001904 NP_001895 P35222 CTNB1_HUMAN Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA. 41 T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.T41A(622)|p.T41I(152)|p.A5_A80del(119)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.T41N(13)|p.T40I(12)|p.Q28_H134del(10)|p.H24_S47del(9)|p.T41S(9)|p.T41P(7)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.T40_L46del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.V22_T102del(2)|p.A21_A80del(2)|p.P16_K133del(2)|p.A39_T42del(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.T41T(2)|p.V22_S71>A(2)|p.A20_A80del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.V22_Y64del(2)|p.T40S(2)|p.T40T(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.T41_N51del(2)|p.A5_E54del(2)|p.I35_T41del(2)|p.A20_S111del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.A5_R90del(1)|p.T40A(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.W25_A80del(1)|p.5_142>(1)|p.A20_Q72del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GGTGCCACTACCACAGCTCCT 0.507000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 34 3 0 0 1 0 0 OSR2 116039 broad.mit.edu 37 8 99963767 99963767 + Silent SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr8:99963767C>T uc011lgx.2 + 4 1561 c.1140C>T c.(1138-1140)ccC>ccT p.P380P OSR2_uc003yir.3_Silent_p.P259P|OSR2_uc003yiq.3_Intron NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN Homo sapiens odd-skipped related 2 (Drosophila) (OSR2), transcript variant 1, mRNA. 259 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) ACAAATGTCCCACATGTGGAA 0.443000 27 4 0 0 1 0 0 SOX8 30812 broad.mit.edu 37 16 1034823 1034823 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr16:1034823G>A uc002ckn.3 + 2 893 c.778G>A c.(778-780)Gac>Aac p.D260N NM_014587 NP_055402 P57073 SOX8_HUMAN Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA. 260 Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) CCAGAACATCGACTTCAGCAA 0.682000 19 11 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131812721 131812721 + Missense_Mutation SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr8:131812721C>T uc003ytd.4 - 14 3267 c.3011G>A c.(3010-3012)gGa>gAa p.G1004E ADCY8_uc010mds.3_Missense_Mutation_p.G873E NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 1004 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.Q1003H(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCATTCCACTCCCTGGTTATT 0.448000 HNSCC(32;0.087) 138 69 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 68836358 68836358 + Missense_Mutation SNP G T T rs132630309 byFrequency TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chrX:68836358G>T uc004dxs.3 + 0 448 c.206G>T c.(205-207)cGg>cTg p.R69L EDA_uc011mpj.2_Missense_Mutation_p.R69L|EDA_uc004dxr.3_Missense_Mutation_p.R69L|EDA_uc004dxm.1_Missense_Mutation_p.R69L|EDA_uc004dxn.1_Missense_Mutation_p.R69L|EDA_uc004dxp.1_Missense_Mutation_p.R69L|EDA_uc004dxq.1_Missense_Mutation_p.R69L NM_001399 NP_001390 Q92838 EDA_HUMAN Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA. 69 R -> L (in ED1). cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 TCGGAGTTGCGGCGGGAACGT 0.662000 26 3 0.004672 0.00471872 1 1 0 AOX1 316 broad.mit.edu 37 2 201477495 201477495 + Missense_Mutation SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr2:201477495C>T uc002uvx.3 + 13 1528 c.1427C>T c.(1426-1428)tCc>tTc p.S476F AOX1_uc010zhf.2_Missense_Mutation_p.S32F|AOX1_uc010fsu.3_5'UTR NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 476 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GCCAAGAATTCCTGCCAGAAA 0.448000 44 4 0 0 1 0 0 STIM2 57620 broad.mit.edu 37 4 27010414 27010414 + Missense_Mutation SNP T G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr4:27010414T>G uc003gsg.4 + 9 1807 c.1279T>G c.(1279-1281)Tta>Gta p.L427V STIM2_uc003gsh.4_Missense_Mutation_p.L435V|STIM2_uc010iex.3_Missense_Mutation_p.L427V|STIM2_uc010iey.3_Missense_Mutation_p.L138V NM_020860 NP_065911 Q9P246 STIM2_HUMAN Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA. 427 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) GACAACTTGTTTACGAGAACG 0.413000 26 23 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 97969640 97969640 + Missense_Mutation SNP T C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr10:97969640T>C uc001kls.4 - 8 878 c.700A>G c.(700-702)Acc>Gcc p.T234A BLNK_uc001kme.4_Missense_Mutation_p.T129A|BLNK_uc001klt.4_Missense_Mutation_p.T125A|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Missense_Mutation_p.T152A|BLNK_uc001klv.4_Missense_Mutation_p.T129A|BLNK_uc001klw.4_Intron|BLNK_uc001klx.4_Missense_Mutation_p.T211A|BLNK_uc001kly.4_Missense_Mutation_p.T234A|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.T211A|BLNK_uc001kmb.4_Missense_Mutation_p.T30A|BLNK_uc001kmc.4_Intron|BLNK_uc001kmd.4_Missense_Mutation_p.T152A|BLNK_uc009xvd.3_Non-coding_Transcript NM_013314 NP_037446 Q8WV28 BLNK_HUMAN Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA. 234 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) GGTGACTTGGTTTCCCAGGCC 0.582000 72 65 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233321902 233321902 + Missense_Mutation SNP C G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr2:233321902C>G uc002vst.4 + 4 595 c.518C>G c.(517-519)gCc>gGc p.A173G ALPI_uc002vsu.4_Missense_Mutation_p.A84G NM_001631 NP_001622 P09923 PPBI_HUMAN Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA. 173 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) GTGCAGCACGCCTCGCCAGCC 0.632000 34 22 0 0 1 0 0 SSX5 6758 broad.mit.edu 37 X 48054551 48054551 + Missense_Mutation SNP T G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chrX:48054551T>G uc004diz.1 - 2 137 c.84A>C c.(82-84)caA>caC p.Q28H SSX5_uc004dja.1_Intron NM_021015 NP_066295 O60225 SSX5_HUMAN Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA. 23 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding p.Q28R(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 GGTCACAGACTTGTCTCCAGG 0.557000 14 42 0 0 1 0 0 TMEM246 84302 broad.mit.edu 37 9 104239214 104239214 + Missense_Mutation SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr9:104239214C>T uc004bbm.3 - 1 483 c.161G>A c.(160-162)cGc>cAc p.R54H AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.R54H NM_032342 NP_115718 Q9BRR3 CI125_HUMAN Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA. 54 integral to membrane ATGCCAATGGCGCAGATAGAA 0.542000 37 34 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41719705 41719705 + Missense_Mutation SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr21:41719705C>T uc002yyq.1 - 5 1554 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 368 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E368Q(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATAAGGTTTTCGTGGTTGATC 0.512000 140 101 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262800 45262800 + Missense_Mutation SNP C G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr5:45262800C>G uc003jok.3 - 7 1921 c.1896G>C c.(1894-1896)atG>atC p.M632I NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 632 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTGCCTGCACCATCTCCCTGT 0.468000 78 27 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89717766 89717766 + Missense_Mutation SNP T G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr10:89717766T>G uc001kfb.3 + 6 1823 c.791T>G c.(790-792)aTg>aGg p.M264R PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 264 C2 tensin-type. T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.K263*(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D252_K263>AKE(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAGAACAAGATGCTAAAAAAG 0.358000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 38 31 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121650513 121650513 + Missense_Mutation SNP A C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr3:121650513A>C uc003eep.2 + 18 1845 c.1692A>C c.(1690-1692)gaA>gaC p.E564D SLC15A2_uc011bjn.1_Missense_Mutation_p.E533D NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 564 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GTAGAACAGAAGATAAGAACT 0.403000 17 10 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 84140598 84140598 + Missense_Mutation SNP T G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr6:84140598T>G uc003pjy.3 - 0 341 c.76A>C c.(76-78)Aag>Cag p.K26Q ME1_uc011dzb.2_5'UTR|ME1_uc011dzc.2_5'UTR NM_002395 NP_002386 P48163 MAOX_HUMAN Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA. 26 NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) GGGTTTACCTTGTTGAGGTGA 0.721000 1 4 0 0 1 0 0 CYP1A1 1543 broad.mit.edu 37 15 75015123 75015123 + Missense_Mutation SNP G A A rs34045449 byFrequency TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr15:75015123G>A uc002ayp.4 - 1 438 c.316C>T c.(316-318)Cgg>Tgg p.R106W CYP1A1_uc010bjy.3_Missense_Mutation_p.R106W|CYP1A1_uc010bju.3_Intron|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Missense_Mutation_p.R106W|CYP1A1_uc010bjz.1_Intron|CYP1A1_uc021sqk.1_Missense_Mutation_p.R106W NM_000499 NP_000490 P04798 CP1A1_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA. 106 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) AGGTCGGGCCGGCCCTTGAAA 0.652000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 53 37 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83250981 83250981 + Missense_Mutation SNP A G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr16:83250981A>G uc010vns.2 + 5 920 c.656A>G c.(655-657)aAg>aGg p.K219R CDH13_uc002fgx.3_Missense_Mutation_p.K172R|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Missense_Mutation_p.K133R NM_001220488 NP_001207417 P55290 CAD13_HUMAN Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA. 172 Cadherin 1. Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GAAAGGTCCAAGTTCCGGCTC 0.463000 54 8 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99642005 99642005 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr14:99642005G>A uc001yga.3 - 3 1435 c.1168C>T c.(1168-1170)Cgg>Tgg p.R390W BCL11B_uc001ygb.3_Missense_Mutation_p.R319W NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 390 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TTCAGGAGCCGGTGCATAGGG 0.771000 T TLX3 T-ALL 10 8 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95676136 95676136 + Silent SNP G T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr12:95676136G>T uc001tdz.2 + 7 1149 c.1044G>T c.(1042-1044)cgG>cgT p.R348R VEZT_uc001tds.3_Silent_p.R300R|VEZT_uc001tdv.3_Silent_p.R321R|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_Splice_Site|VEZT_uc001tdy.2_Non-coding_Transcript NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA. 348 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 TCTTCAGACGGTTAGCCCTAT 0.413000 70 4 0.150653 0.150653 1 1 0 GPR133 283383 broad.mit.edu 37 12 131484963 131484963 + Silent SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr12:131484963G>A uc010tbm.2 + 9 1657 c.1098G>A c.(1096-1098)ctG>ctA p.L366L GPR133_uc001uit.4_Silent_p.L334L NM_198827 NP_942122 Q6QNK2 GP133_HUMAN Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA. 334 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCCTTCTACTGCCTGGTTGGA 0.498000 40 24 0 0 1 0 0 PRNP 5621 broad.mit.edu 37 20 4680251 4680251 + Missense_Mutation SNP A G G rs1799990 byFrequency TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr20:4680251A>G uc021wae.1 + 0 385 c.385A>G c.(385-387)Atg>Gtg p.M129V PRNP_uc002wkt.1_Missense_Mutation_p.M99V|PRNP_uc002wku.3_Missense_Mutation_p.M129V|PRNP_uc002wkv.3_Missense_Mutation_p.M129V|PRNP_uc002wkw.3_Missense_Mutation_p.M129V|PRNP_uc002wkx.3_Missense_Mutation_p.M129V|PRNP_uc002wky.3_Missense_Mutation_p.M129V|PRNP_uc010gbe.1_Missense_Mutation_p.M129V NM_183079 NP_898902 P04156 PRIO_HUMAN Homo sapiens prion protein (PRNP), transcript variant 2, mRNA. 129 Interaction with GRB2, ERI3 and SYN1 (By similarity). M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of T cell receptor signaling pathway|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|response to oxidative stress Golgi apparatus|anchored to membrane|endoplasmic reticulum|extrinsic to membrane|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding p.M129V(4) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) TGGCGGCTACATGCTGGGAAG 0.547000 82 6 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117398016 117398016 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr7:117398016G>A uc003vjf.3 - 10 3273 c.3181C>T c.(3181-3183)Ccg>Tcg p.P1061S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA. 1061 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) ACTGACCACGGCACATTTCCT 0.453000 23 3 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33937492 33937492 + Missense_Mutation SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr5:33937492C>T uc003jic.2 + 0 1002 c.647C>T c.(646-648)gCg>gTg p.A216V NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA. 216 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 TCGGCCAAGGCGCTGTGTGTG 0.687000 41 18 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12353756 12353756 + Nonsense_Mutation SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr1:12353756C>T uc001atv.3 + 23 6169 c.6028C>T c.(6028-6030)Cag>Tag p.Q2010* VPS13D_uc001atw.3_Nonsense_Mutation_p.Q2010*|VPS13D_uc001atx.3_Nonsense_Mutation_p.Q1198* NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2010 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TATTGAGGGGCAGACGGTAGG 0.517000 9 8 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52943994 52943994 + Missense_Mutation SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr12:52943994C>T uc001sao.3 - 1 545 c.475G>A c.(475-477)Gag>Aag p.E159K NM_033448 NP_258259 Q3SY84 K2C71_HUMAN Homo sapiens keratin 71 (KRT71), mRNA. 159 Coil 1A.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) CACTTGGTCTCCAGTACCTGG 0.567000 59 24 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716493 13716493 + Missense_Mutation SNP T G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr12:13716493T>G uc001rbt.2 - 12 3858 c.3679A>C c.(3679-3681)Acg>Ccg p.T1227P NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 1227 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCACCGTCGTGGAGTAGTTG 0.602000 50 31 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35984826 35984826 + Missense_Mutation SNP A C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chrX:35984826A>C uc004ddj.3 + 8 1621 c.1555A>C c.(1555-1557)Atc>Ctc p.I519L CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 519 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TTTCAACAGCATCTGTAAAGC 0.368000 17 35 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53574852 53574852 + Missense_Mutation SNP T C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chrX:53574852T>C uc004dsp.3 - 67 10820 c.10418A>G c.(10417-10419)cAg>cGg p.Q3473R HUWE1_uc004dsn.3_Missense_Mutation_p.Q2281R NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 3473 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGAATTAGCCTGTGCTTCTGA 0.562000 7 3 0 0 1 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751195 26751195 + Missense_Mutation SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr3:26751195C>T uc003cdp.3 + 1 621 c.32C>T c.(31-33)tCc>tTc p.S11F LRRC3B_uc003cdq.3_Missense_Mutation_p.S11F|LRRC3B_uc021wuj.1_Missense_Mutation_p.S11F NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA. 11 integral to membrane p.R10H(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 TTAACCCGTTCCCTCTCCATG 0.478000 71 35 0 0 1 0 0 WWTR1 25937 broad.mit.edu 37 3 149243902 149243902 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr3:149243902G>A uc003exf.3 - 5 1256 c.916C>T c.(916-918)Cat>Tat p.H306Y WWTR1_uc003exe.3_Missense_Mutation_p.H306Y|WWTR1_uc021xfm.1_Missense_Mutation_p.H306Y|WWTR1_uc003exh.3_Missense_Mutation_p.H306Y NM_015472 NP_056287 Q9GZV5 WWTR1_HUMAN Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA. 306 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TCCCTCGAATGATATGGCCCT 0.458000 T CAMTA1 epitheliod hemangioendothelioma 33 12 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153580602 153580602 + Missense_Mutation SNP T C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chrX:153580602T>C uc004fkk.2 - 40 6965 c.6716A>G c.(6715-6717)cAc>cGc p.H2239R FLNA_uc011mzn.1_Missense_Mutation_p.H372R|FLNA_uc010nuu.1_Missense_Mutation_p.H2231R NM_001110556 NP_001104026 P21333 FLNA_HUMAN Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA. 2239 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) TCGGACCTTGTGGGCTCCCCC 0.667000 3 21 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99574349 99574349 + Silent SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr13:99574349G>A uc001vnt.2 - 5 596 c.541C>T c.(541-543)Ctg>Ttg p.L181L DOCK9_uc001vnw.2_Silent_p.L180L|DOCK9_uc021rlw.1_Silent_p.L180L|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.L181L|DOCK9_uc010tis.1_Silent_p.L180L|DOCK9_uc010tit.1_Silent_p.L181L|DOCK9_uc010afu.1_5'UTR NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA. 181 PH. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCTTTGTACAGCCAGCCATGC 0.552000 5 3 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179490119 179490119 + Missense_Mutation SNP A T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr2:179490119A>T uc021vsy.1 - 189 36950 c.36725T>A c.(36724-36726)gTc>gAc p.V12242D MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V5937D|TTN_uc021vta.1_Missense_Mutation_p.V5870D|TTN_uc021vtb.1_Missense_Mutation_p.V5745D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13169 Ig-like 82. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R12241H(1) 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) TGAACGTGGGACCACCTAGTT 0.343000 93 60 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134952 119134952 + Missense_Mutation SNP G T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr3:119134952G>T uc003ecj.4 + 11 4708 c.4176G>T c.(4174-4176)ttG>ttT p.L1392F NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA. 1392 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GTGGAGAGTTGGCAGAAAACA 0.502000 57 40 9.8876e-21 1.05121e-20 1 1 0 CASD1 64921 broad.mit.edu 37 7 94147545 94147545 + Missense_Mutation SNP T A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr7:94147545T>A uc003uni.4 + 2 488 c.261T>A c.(259-261)caT>caA p.H87Q CASD1_uc003unh.2_Missense_Mutation_p.H87Q|CASD1_uc003unj.4_Missense_Mutation_p.H87Q NM_022900 NP_075051 Q96PB1 CASD1_HUMAN Homo sapiens CAS1 domain containing 1 (CASD1), mRNA. 87 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TAGATAAACATATTGCATTTA 0.303000 128 46 0 0 1 0 0 AK098438 0 broad.mit.edu 37 1 21751193 21751193 + RNA SNP C A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr1:21751193C>A uc001bep.1 - 4 c.465G>T Homo sapiens cDNA FLJ25572 fis, clone JTH05111. TTGTCCACGTCAAGGGCCAAG 0.453000 173 68 2.0191e-50 2.21662e-50 1 1 0 FN1 2335 broad.mit.edu 37 2 216236929 216236929 + Missense_Mutation SNP T A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr2:216236929T>A uc002vfa.3 - 39 6683 c.6417A>T c.(6415-6417)caA>caT p.Q2139H FN1_uc002vfc.3_Missense_Mutation_p.Q1933H|FN1_uc002vfe.3_Missense_Mutation_p.Q2048H|FN1_uc002vff.3_Missense_Mutation_p.Q2023H|FN1_uc002vfg.3_Missense_Mutation_p.Q1958H|FN1_uc002vfh.3_Intron|FN1_uc002vfi.3_Missense_Mutation_p.Q2139H|FN1_uc002vfj.3_Intron|FN1_uc002vfb.3_Missense_Mutation_p.Q1958H|FN1_uc002vez.3_Missense_Mutation_p.Q333H|FN1_uc010zjp.2_Missense_Mutation_p.Q676H|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Intron|FN1_uc010fvd.1_Missense_Mutation_p.Q230H NM_212482 NP_997647 P02751 FINC_HUMAN Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA. 2048 Fibronectin type-III 16. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGATCATTTGTTGCCCAACAC 0.537000 65 39 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97839149 97839149 + Missense_Mutation SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr1:97839149C>T uc001drv.3 - 15 2163 c.2026G>A c.(2026-2028)Gga>Aga p.G676R NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 676 Uracil binding (Potential). 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CCTCTTTCTCCCATGCCATGT 0.443000 33 14 0 0 1 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664004 169664004 + RNA SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr3:169664004C>T uc011bpp.2 - 1 c.3799G>A Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA. TGCCAGGGCTCATCCTAGTAA 0.498000 67 32 0 0 1 0 0 FAM73A 374986 broad.mit.edu 37 1 78340633 78340633 + Missense_Mutation SNP C A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr1:78340633C>A uc010ork.2 + 15 1818 c.1786C>A c.(1786-1788)Cgc>Agc p.R596S FAM73A_uc001dhx.3_Missense_Mutation_p.R595S|FAM73A_uc010orl.2_Missense_Mutation_p.R558S NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA. 595 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) ACTCATTCGCCGCACTGAGCT 0.428000 27 28 9.39395e-14 9.68152e-14 1 1 0 DKK3 27122 broad.mit.edu 37 11 11986189 11986189 + Missense_Mutation SNP C T T TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr11:11986189C>T uc010rcg.1 - 7 1075 c.917G>A c.(916-918)cGt>cAt p.R306H DKK3_uc010rcf.2_Missense_Mutation_p.R264H|DKK3_uc001mju.3_Missense_Mutation_p.R292H|DKK3_uc001mjv.3_Missense_Mutation_p.R292H|DKK3_uc001mjw.3_Missense_Mutation_p.R292H NM_015881 NP_056965 Q9UBP4 DKK3_HUMAN Homo sapiens dickkopf 3 homolog (Xenopus laevis) (DKK3), transcript variant 1, mRNA. 292 Wnt receptor signaling pathway|adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent extracellular space breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8 Epithelial(150;0.000502) ATCTTGGTCACGGCTCCCCAC 0.617000 30 23 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869336 174869336 + Missense_Mutation SNP G A A TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr5:174869336G>A uc003mcz.3 - 1 1712 c.767C>T c.(766-768)cCg>cTg p.P256L DRD1_uc021yia.1_Missense_Mutation_p.P256L NM_000794 NP_000785 P21728 DRD1_HUMAN Homo sapiens dopamine receptor D1 (DRD1), mRNA. 256 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding p.P256L(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) AGAACTTTCCGGTTGAGAACA 0.478000 65 30 0 0 1 0 0 OR6M1 390261 broad.mit.edu 37 11 123677045 123677045 + Missense_Mutation SNP T C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr11:123677045T>C uc010rzz.2 - 0 13 c.13A>G c.(13-15)Agc>Ggc p.S5G NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA. 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) GTCACAGTGCTCCAGTTTCCC 0.418000 10 53 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1079555 1079555 + Missense_Mutation SNP G C C TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr5:1079555G>C uc003jbu.3 - 9 1420 c.1354C>G c.(1354-1356)Ccc>Gcc p.P452A NM_006598 NP_006589 Q9Y666 S12A7_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA. 452 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity p.P452P(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GTCCCCGTGGGGATGGACTTC 0.587000 300 33 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150421523 150421528 + In_Frame_Del DEL CCTCCT - - rs139473500 by1000genomes TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr3:150421523_150421528delCCTCCT uc003eyg.3 - 0 215_220 c.158_163delAGGAGG c.(157-165)gaggaggtg>gtg p.EE53del FAM194A_uc003eyh.3_Intron NM_152394 NP_689607 Q7L0X2 F194A_HUMAN Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA. 53 Glu-rich. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 tcctccaccacctcctcctcctcctc 0.602 --- 21 --- --- 8 --- BC070322 0 broad.mit.edu 37 9 69634663 69634664 + RNA INS - G G TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr9:69634663_69634664insG uc004afu.3 - 2 c.407_408insC Homo sapiens aquaporin 7 pseudogene 2, mRNA (cDNA clone IMAGE:30406582). GGTGAAGATGCGGGGGGGGCAG 0.569 --- 152 --- --- 19 --- CBL 867 broad.mit.edu 37 11 119148884 119148895 + In_Frame_Del DEL TGAATTATACTG - - TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr11:119148884_119148895delTGAATTATACTG uc001pwe.3 + 7 1242_1253 c.1104_1115delTGAATTATACTG c.(1102-1116)tatgaattatactgt>tat p.ELYC369del NM_005188 NP_005179 P22681 CBL_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA. 369 Asp/Glu-rich (acidic).|Linker. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.Y371H(35)|p.E366_Q409del(26)|p.Y371D(6)|p.?(3)|p.E366_K477del(2)|p.L370_Y371insL(2)|p.Y371C(2)|p.E369_D390del(2)|p.Y371S(2)|p.E369_Q409del(2)|p.K322_D460del(1)|p.Q367_Y368insQ(1)|p.Y368*(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) AGGAACAATATGAATTATACTGTGAGATGGGC 0.316 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies --- 8 --- --- 52 --- NUDT4 11163 broad.mit.edu 37 12 93788429 93788429 + Frame_Shift_Del DEL C - - TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr12:93788429delC uc010sup.2 + 1 542 c.144delC c.(142-144)gtcfs p.V48fs NUDT4_uc001tcm.3_Frame_Shift_Del_p.V48fs|NUDT4_uc001tcn.3_5'UTR|NUDT4_uc010suq.2_5'UTR|NUDT4_uc001tco.3_5'UTR NM_199040 NP_950241 Q9NZJ9 NUDT4_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA. 48 Nudix hydrolase. calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding endometrium(2)|kidney(1)|lung(2) 5 AGTGGATTGTCCCAGGAGGAG 0.507 --- 4 --- --- 2 --- SOX10 6663 broad.mit.edu 37 22 38369705 38369715 + Frame_Shift_Del DEL ACTGGGGGCGG - - TCGA-EB-A42Y-01A-12D-A24R-08 TCGA-EB-A42Y-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3eef3ec1-b867-4eed-93d8-a499eef49d02 2c681041-b0bf-4657-b2c7-37f3350e70ea g.chr22:38369705_38369715delACTGGGGGCGG uc003aun.1 - 3 1466_1476 c.1188_1198delCCGCCCCCAGT c.(1186-1200)tcccgcccccagtttfs p.S396fs AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Frame_Shift_Del_p.S396fs NM_006941 NP_008872 P56693 SOX10_HUMAN Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA. 396 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) GAGTAGTCAAACTGGGGGCGGGAGATGGAGG 0.640 --- 32 --- --- 9 ---